SNP Links for Gene (Select 83481) - SNP

Links from Gene

Items: 1 to 20 of 6764

<< First< Prev

Page of 339

Next >Last >>

Select item 14910093741.

rs1491009374 has merged into rs35186960 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:143857905 (GRCh38)
8:144940089 (GRCh37)
Canonical SPDI:: NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143857896:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EPPK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
A=0.005455/3 (NorthernSweden)
HGVS:: NC_000008.11:g.143857905_143857919del, NC_000008.11:g.143857907_143857919del, NC_000008.11:g.143857908_143857919del, NC_000008.11:g.143857909_143857919del, NC_000008.11:g.143857910_143857919del, NC_000008.11:g.143857911_143857919del, NC_000008.11:g.143857912_143857919del, NC_000008.11:g.143857913_143857919del, NC_000008.11:g.143857914_143857919del, NC_000008.11:g.143857915_143857919del, NC_000008.11:g.143857916_143857919del, NC_000008.11:g.143857917_143857919del, NC_000008.11:g.143857918_143857919del, NC_000008.11:g.143857919del, NC_000008.11:g.143857919dup, NC_000008.11:g.143857918_143857919dup, NC_000008.11:g.143857917_143857919dup, NC_000008.11:g.143857916_143857919dup, NC_000008.11:g.143857915_143857919dup, NC_000008.11:g.143857914_143857919dup, NC_000008.11:g.143857913_143857919dup, NC_000008.11:g.143857912_143857919dup, NC_000008.11:g.143857911_143857919dup, NC_000008.11:g.143857910_143857919dup, NC_000008.11:g.143857909_143857919dup, NC_000008.11:g.143857908_143857919dup, NC_000008.11:g.143857907_143857919dup, NC_000008.11:g.143857906_143857919dup, NC_000008.11:g.143857905_143857919dup, NC_000008.11:g.143857904_143857919dup, NC_000008.11:g.143857903_143857919dup, NC_000008.11:g.143857902_143857919dup, NC_000008.11:g.143857901_143857919dup, NC_000008.11:g.143857900_143857919dup, NC_000008.11:g.143857899_143857919dup, NC_000008.11:g.143857898_143857919dup, NC_000008.11:g.143857897_143857919dup, NC_000008.11:g.143857919_143857920insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.143857919_143857920insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.143857919_143857920insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.143857919_143857920insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.143857919_143857920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.143857919_143857920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.143857919_143857920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.143857919_143857920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.143857919_143857920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.143857919_143857920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.143857897_143857919A[39]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.143857897_143857919A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.143857897_143857919A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_003315923.1:g.196550_196564del, NW_003315923.1:g.196552_196564del, NW_003315923.1:g.196553_196564del, NW_003315923.1:g.196554_196564del, NW_003315923.1:g.196555_196564del, NW_003315923.1:g.196556_196564del, NW_003315923.1:g.196557_196564del, NW_003315923.1:g.196558_196564del, NW_003315923.1:g.196559_196564del, NW_003315923.1:g.196560_196564del, NW_003315923.1:g.196561_196564del, NW_003315923.1:g.196562_196564del, NW_003315923.1:g.196563_196564del, NW_003315923.1:g.196564del, NW_003315923.1:g.196564dup, NW_003315923.1:g.196563_196564dup, NW_003315923.1:g.196562_196564dup, NW_003315923.1:g.196561_196564dup, NW_003315923.1:g.196560_196564dup, NW_003315923.1:g.196559_196564dup, NW_003315923.1:g.196558_196564dup, NW_003315923.1:g.196557_196564dup, NW_003315923.1:g.196556_196564dup, NW_003315923.1:g.196555_196564dup, NW_003315923.1:g.196554_196564dup, NW_003315923.1:g.196553_196564dup, NW_003315923.1:g.196552_196564dup, NW_003315923.1:g.196551_196564dup, NW_003315923.1:g.196550_196564dup, NW_003315923.1:g.196549_196564dup, NW_003315923.1:g.196548_196564dup, NW_003315923.1:g.196547_196564dup, NW_003315923.1:g.196546_196564dup, NW_003315923.1:g.196545_196564dup, NW_003315923.1:g.196544_196564dup, NW_003315923.1:g.196543_196564dup, NW_003315923.1:g.196542_196564dup, NW_003315923.1:g.196564_196565insAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003315923.1:g.196564_196565insAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003315923.1:g.196564_196565insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003315923.1:g.196564_196565insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003315923.1:g.196564_196565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003315923.1:g.196564_196565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003315923.1:g.196564_196565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003315923.1:g.196564_196565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003315923.1:g.196564_196565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003315923.1:g.196564_196565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003315923.1:g.196542_196564A[39]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_003315923.1:g.196542_196564A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_003315923.1:g.196542_196564A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_033825.1:g.25554_25568del, NG_033825.1:g.25556_25568del, NG_033825.1:g.25557_25568del, NG_033825.1:g.25558_25568del, NG_033825.1:g.25559_25568del, NG_033825.1:g.25560_25568del, NG_033825.1:g.25561_25568del, NG_033825.1:g.25562_25568del, NG_033825.1:g.25563_25568del, NG_033825.1:g.25564_25568del, NG_033825.1:g.25565_25568del, NG_033825.1:g.25566_25568del, NG_033825.1:g.25567_25568del, NG_033825.1:g.25568del, NG_033825.1:g.25568dup, NG_033825.1:g.25567_25568dup, NG_033825.1:g.25566_25568dup, NG_033825.1:g.25565_25568dup, NG_033825.1:g.25564_25568dup, NG_033825.1:g.25563_25568dup, NG_033825.1:g.25562_25568dup, NG_033825.1:g.25561_25568dup, NG_033825.1:g.25560_25568dup, NG_033825.1:g.25559_25568dup, NG_033825.1:g.25558_25568dup, NG_033825.1:g.25557_25568dup, NG_033825.1:g.25556_25568dup, NG_033825.1:g.25555_25568dup, NG_033825.1:g.25554_25568dup, NG_033825.1:g.25553_25568dup, NG_033825.1:g.25552_25568dup, NG_033825.1:g.25551_25568dup, NG_033825.1:g.25550_25568dup, NG_033825.1:g.25549_25568dup, NG_033825.1:g.25548_25568dup, NG_033825.1:g.25547_25568dup, NG_033825.1:g.25546_25568dup, NG_033825.1:g.25568_25569insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033825.1:g.25568_25569insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033825.1:g.25568_25569insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033825.1:g.25568_25569insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033825.1:g.25568_25569insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033825.1:g.25568_25569insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033825.1:g.25568_25569insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033825.1:g.25568_25569insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033825.1:g.25568_25569insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033825.1:g.25568_25569insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033825.1:g.25546_25568T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_033825.1:g.25546_25568T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_033825.1:g.25546_25568T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_031308.4:c.*76_*90del, NM_031308.4:c.*78_*90del, NM_031308.4:c.*79_*90del, NM_031308.4:c.*80_*90del, NM_031308.4:c.*81_*90del, NM_031308.4:c.*82_*90del, NM_031308.4:c.*83_*90del, NM_031308.4:c.*84_*90del, NM_031308.4:c.*85_*90del, NM_031308.4:c.*86_*90del, NM_031308.4:c.*87_*90del, NM_031308.4:c.*88_*90del, NM_031308.4:c.*89_*90del, NM_031308.4:c.*90del, NM_031308.4:c.*90dup, NM_031308.4:c.*89_*90dup, NM_031308.4:c.*88_*90dup, NM_031308.4:c.*87_*90dup, NM_031308.4:c.*86_*90dup, NM_031308.4:c.*85_*90dup, NM_031308.4:c.*84_*90dup, NM_031308.4:c.*83_*90dup, NM_031308.4:c.*82_*90dup, NM_031308.4:c.*81_*90dup, NM_031308.4:c.*80_*90dup, NM_031308.4:c.*79_*90dup, NM_031308.4:c.*78_*90dup, NM_031308.4:c.*77_*90dup, NM_031308.4:c.*76_*90dup, NM_031308.4:c.*75_*90dup, NM_031308.4:c.*74_*90dup, NM_031308.4:c.*73_*90dup, NM_031308.4:c.*72_*90dup, NM_031308.4:c.*71_*90dup, NM_031308.4:c.*70_*90dup, NM_031308.4:c.*69_*90dup, NM_031308.4:c.*68_*90dup, NM_031308.4:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.4:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.4:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.4:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.4:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.4:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.4:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.4:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.4:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.4:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.4:c.*68_*90T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_031308.4:c.*68_*90T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_031308.4:c.*68_*90T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_031308.3:c.*76_*90del, NM_031308.3:c.*78_*90del, NM_031308.3:c.*79_*90del, NM_031308.3:c.*80_*90del, NM_031308.3:c.*81_*90del, NM_031308.3:c.*82_*90del, NM_031308.3:c.*83_*90del, NM_031308.3:c.*84_*90del, NM_031308.3:c.*85_*90del, NM_031308.3:c.*86_*90del, NM_031308.3:c.*87_*90del, NM_031308.3:c.*88_*90del, NM_031308.3:c.*89_*90del, NM_031308.3:c.*90del, NM_031308.3:c.*90dup, NM_031308.3:c.*89_*90dup, NM_031308.3:c.*88_*90dup, NM_031308.3:c.*87_*90dup, NM_031308.3:c.*86_*90dup, NM_031308.3:c.*85_*90dup, NM_031308.3:c.*84_*90dup, NM_031308.3:c.*83_*90dup, NM_031308.3:c.*82_*90dup, NM_031308.3:c.*81_*90dup, NM_031308.3:c.*80_*90dup, NM_031308.3:c.*79_*90dup, NM_031308.3:c.*78_*90dup, NM_031308.3:c.*77_*90dup, NM_031308.3:c.*76_*90dup, NM_031308.3:c.*75_*90dup, NM_031308.3:c.*74_*90dup, NM_031308.3:c.*73_*90dup, NM_031308.3:c.*72_*90dup, NM_031308.3:c.*71_*90dup, NM_031308.3:c.*70_*90dup, NM_031308.3:c.*69_*90dup, NM_031308.3:c.*68_*90dup, NM_031308.3:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.3:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.3:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.3:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.3:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.3:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.3:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.3:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.3:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.3:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.3:c.*68_*90T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_031308.3:c.*68_*90T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_031308.3:c.*68_*90T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_031308.2:c.*76_*90del, NM_031308.2:c.*78_*90del, NM_031308.2:c.*79_*90del, NM_031308.2:c.*80_*90del, NM_031308.2:c.*81_*90del, NM_031308.2:c.*82_*90del, NM_031308.2:c.*83_*90del, NM_031308.2:c.*84_*90del, NM_031308.2:c.*85_*90del, NM_031308.2:c.*86_*90del, NM_031308.2:c.*87_*90del, NM_031308.2:c.*88_*90del, NM_031308.2:c.*89_*90del, NM_031308.2:c.*90del, NM_031308.2:c.*90dup, NM_031308.2:c.*89_*90dup, NM_031308.2:c.*88_*90dup, NM_031308.2:c.*87_*90dup, NM_031308.2:c.*86_*90dup, NM_031308.2:c.*85_*90dup, NM_031308.2:c.*84_*90dup, NM_031308.2:c.*83_*90dup, NM_031308.2:c.*82_*90dup, NM_031308.2:c.*81_*90dup, NM_031308.2:c.*80_*90dup, NM_031308.2:c.*79_*90dup, NM_031308.2:c.*78_*90dup, NM_031308.2:c.*77_*90dup, NM_031308.2:c.*76_*90dup, NM_031308.2:c.*75_*90dup, NM_031308.2:c.*74_*90dup, NM_031308.2:c.*73_*90dup, NM_031308.2:c.*72_*90dup, NM_031308.2:c.*71_*90dup, NM_031308.2:c.*70_*90dup, NM_031308.2:c.*69_*90dup, NM_031308.2:c.*68_*90dup, NM_031308.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031308.2:c.*68_*90T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_031308.2:c.*68_*90T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_031308.2:c.*68_*90T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.144940081delinsAA, NC_000008.10:g.144940078_144940091del, NC_000008.10:g.144940068ACAAAAAAAAAA[1], NC_000008.10:g.144940073AAAAAAAACAA[1], NC_000008.10:g.144940081_144940090del, NC_000008.10:g.144940081_144940089del, NC_000008.10:g.144940081_144940088del, NC_000008.10:g.144940081_144940087del, NC_000008.10:g.144940081_144940086del, NC_000008.10:g.144940081_144940085del, NC_000008.10:g.144940081_144940084del, NC_000008.10:g.144940081_144940083del, NC_000008.10:g.144940081_144940082del, NC_000008.10:g.144940081del, NC_000008.10:g.144940081C>A, NC_000008.10:g.144940081delinsAAA, NC_000008.10:g.144940081delinsAAAA, NC_000008.10:g.144940081delinsAAAAA, NC_000008.10:g.144940081delinsAAAAAA, NC_000008.10:g.144940081delinsAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.144940081delinsAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAA, XM_017013890.2:c.*76_*90del, XM_017013890.2:c.*78_*90del, XM_017013890.2:c.*79_*90del, XM_017013890.2:c.*80_*90del, XM_017013890.2:c.*81_*90del, XM_017013890.2:c.*82_*90del, XM_017013890.2:c.*83_*90del, XM_017013890.2:c.*84_*90del, XM_017013890.2:c.*85_*90del, XM_017013890.2:c.*86_*90del, XM_017013890.2:c.*87_*90del, XM_017013890.2:c.*88_*90del, XM_017013890.2:c.*89_*90del, XM_017013890.2:c.*90del, XM_017013890.2:c.*90dup, XM_017013890.2:c.*89_*90dup, XM_017013890.2:c.*88_*90dup, XM_017013890.2:c.*87_*90dup, XM_017013890.2:c.*86_*90dup, XM_017013890.2:c.*85_*90dup, XM_017013890.2:c.*84_*90dup, XM_017013890.2:c.*83_*90dup, XM_017013890.2:c.*82_*90dup, XM_017013890.2:c.*81_*90dup, XM_017013890.2:c.*80_*90dup, XM_017013890.2:c.*79_*90dup, XM_017013890.2:c.*78_*90dup, XM_017013890.2:c.*77_*90dup, XM_017013890.2:c.*76_*90dup, XM_017013890.2:c.*75_*90dup, XM_017013890.2:c.*74_*90dup, XM_017013890.2:c.*73_*90dup, XM_017013890.2:c.*72_*90dup, XM_017013890.2:c.*71_*90dup, XM_017013890.2:c.*70_*90dup, XM_017013890.2:c.*69_*90dup, XM_017013890.2:c.*68_*90dup, XM_017013890.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.2:c.*68_*90T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_017013890.2:c.*68_*90T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_017013890.2:c.*68_*90T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_017013890.1:c.*76_*90del, XM_017013890.1:c.*78_*90del, XM_017013890.1:c.*79_*90del, XM_017013890.1:c.*80_*90del, XM_017013890.1:c.*81_*90del, XM_017013890.1:c.*82_*90del, XM_017013890.1:c.*83_*90del, XM_017013890.1:c.*84_*90del, XM_017013890.1:c.*85_*90del, XM_017013890.1:c.*86_*90del, XM_017013890.1:c.*87_*90del, XM_017013890.1:c.*88_*90del, XM_017013890.1:c.*89_*90del, XM_017013890.1:c.*90del, XM_017013890.1:c.*90dup, XM_017013890.1:c.*89_*90dup, XM_017013890.1:c.*88_*90dup, XM_017013890.1:c.*87_*90dup, XM_017013890.1:c.*86_*90dup, XM_017013890.1:c.*85_*90dup, XM_017013890.1:c.*84_*90dup, XM_017013890.1:c.*83_*90dup, XM_017013890.1:c.*82_*90dup, XM_017013890.1:c.*81_*90dup, XM_017013890.1:c.*80_*90dup, XM_017013890.1:c.*79_*90dup, XM_017013890.1:c.*78_*90dup, XM_017013890.1:c.*77_*90dup, XM_017013890.1:c.*76_*90dup, XM_017013890.1:c.*75_*90dup, XM_017013890.1:c.*74_*90dup, XM_017013890.1:c.*73_*90dup, XM_017013890.1:c.*72_*90dup, XM_017013890.1:c.*71_*90dup, XM_017013890.1:c.*70_*90dup, XM_017013890.1:c.*69_*90dup, XM_017013890.1:c.*68_*90dup, XM_017013890.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013890.1:c.*68_*90T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_017013890.1:c.*68_*90T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_017013890.1:c.*68_*90T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_017013892.2:c.*76_*90del, XM_017013892.2:c.*78_*90del, XM_017013892.2:c.*79_*90del, XM_017013892.2:c.*80_*90del, XM_017013892.2:c.*81_*90del, XM_017013892.2:c.*82_*90del, XM_017013892.2:c.*83_*90del, XM_017013892.2:c.*84_*90del, XM_017013892.2:c.*85_*90del, XM_017013892.2:c.*86_*90del, XM_017013892.2:c.*87_*90del, XM_017013892.2:c.*88_*90del, XM_017013892.2:c.*89_*90del, XM_017013892.2:c.*90del, XM_017013892.2:c.*90dup, XM_017013892.2:c.*89_*90dup, XM_017013892.2:c.*88_*90dup, XM_017013892.2:c.*87_*90dup, XM_017013892.2:c.*86_*90dup, XM_017013892.2:c.*85_*90dup, XM_017013892.2:c.*84_*90dup, XM_017013892.2:c.*83_*90dup, XM_017013892.2:c.*82_*90dup, XM_017013892.2:c.*81_*90dup, XM_017013892.2:c.*80_*90dup, XM_017013892.2:c.*79_*90dup, XM_017013892.2:c.*78_*90dup, XM_017013892.2:c.*77_*90dup, XM_017013892.2:c.*76_*90dup, XM_017013892.2:c.*75_*90dup, XM_017013892.2:c.*74_*90dup, XM_017013892.2:c.*73_*90dup, XM_017013892.2:c.*72_*90dup, XM_017013892.2:c.*71_*90dup, XM_017013892.2:c.*70_*90dup, XM_017013892.2:c.*69_*90dup, XM_017013892.2:c.*68_*90dup, XM_017013892.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.2:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.2:c.*68_*90T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_017013892.2:c.*68_*90T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_017013892.2:c.*68_*90T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_017013892.1:c.*76_*90del, XM_017013892.1:c.*78_*90del, XM_017013892.1:c.*79_*90del, XM_017013892.1:c.*80_*90del, XM_017013892.1:c.*81_*90del, XM_017013892.1:c.*82_*90del, XM_017013892.1:c.*83_*90del, XM_017013892.1:c.*84_*90del, XM_017013892.1:c.*85_*90del, XM_017013892.1:c.*86_*90del, XM_017013892.1:c.*87_*90del, XM_017013892.1:c.*88_*90del, XM_017013892.1:c.*89_*90del, XM_017013892.1:c.*90del, XM_017013892.1:c.*90dup, XM_017013892.1:c.*89_*90dup, XM_017013892.1:c.*88_*90dup, XM_017013892.1:c.*87_*90dup, XM_017013892.1:c.*86_*90dup, XM_017013892.1:c.*85_*90dup, XM_017013892.1:c.*84_*90dup, XM_017013892.1:c.*83_*90dup, XM_017013892.1:c.*82_*90dup, XM_017013892.1:c.*81_*90dup, XM_017013892.1:c.*80_*90dup, XM_017013892.1:c.*79_*90dup, XM_017013892.1:c.*78_*90dup, XM_017013892.1:c.*77_*90dup, XM_017013892.1:c.*76_*90dup, XM_017013892.1:c.*75_*90dup, XM_017013892.1:c.*74_*90dup, XM_017013892.1:c.*73_*90dup, XM_017013892.1:c.*72_*90dup, XM_017013892.1:c.*71_*90dup, XM_017013892.1:c.*70_*90dup, XM_017013892.1:c.*69_*90dup, XM_017013892.1:c.*68_*90dup, XM_017013892.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017013892.1:c.*68_*90T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_017013892.1:c.*68_*90T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_017013892.1:c.*68_*90T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047422292.1:c.*76_*90del, XM_047422292.1:c.*78_*90del, XM_047422292.1:c.*79_*90del, XM_047422292.1:c.*80_*90del, XM_047422292.1:c.*81_*90del, XM_047422292.1:c.*82_*90del, XM_047422292.1:c.*83_*90del, XM_047422292.1:c.*84_*90del, XM_047422292.1:c.*85_*90del, XM_047422292.1:c.*86_*90del, XM_047422292.1:c.*87_*90del, XM_047422292.1:c.*88_*90del, XM_047422292.1:c.*89_*90del, XM_047422292.1:c.*90del, XM_047422292.1:c.*90dup, XM_047422292.1:c.*89_*90dup, XM_047422292.1:c.*88_*90dup, XM_047422292.1:c.*87_*90dup, XM_047422292.1:c.*86_*90dup, XM_047422292.1:c.*85_*90dup, XM_047422292.1:c.*84_*90dup, XM_047422292.1:c.*83_*90dup, XM_047422292.1:c.*82_*90dup, XM_047422292.1:c.*81_*90dup, XM_047422292.1:c.*80_*90dup, XM_047422292.1:c.*79_*90dup, XM_047422292.1:c.*78_*90dup, XM_047422292.1:c.*77_*90dup, XM_047422292.1:c.*76_*90dup, XM_047422292.1:c.*75_*90dup, XM_047422292.1:c.*74_*90dup, XM_047422292.1:c.*73_*90dup, XM_047422292.1:c.*72_*90dup, XM_047422292.1:c.*71_*90dup, XM_047422292.1:c.*70_*90dup, XM_047422292.1:c.*69_*90dup, XM_047422292.1:c.*68_*90dup, XM_047422292.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422292.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422292.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422292.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422292.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422292.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422292.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422292.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422292.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422292.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422292.1:c.*68_*90T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047422292.1:c.*68_*90T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047422292.1:c.*68_*90T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047422293.1:c.*76_*90del, XM_047422293.1:c.*78_*90del, XM_047422293.1:c.*79_*90del, XM_047422293.1:c.*80_*90del, XM_047422293.1:c.*81_*90del, XM_047422293.1:c.*82_*90del, XM_047422293.1:c.*83_*90del, XM_047422293.1:c.*84_*90del, XM_047422293.1:c.*85_*90del, XM_047422293.1:c.*86_*90del, XM_047422293.1:c.*87_*90del, XM_047422293.1:c.*88_*90del, XM_047422293.1:c.*89_*90del, XM_047422293.1:c.*90del, XM_047422293.1:c.*90dup, XM_047422293.1:c.*89_*90dup, XM_047422293.1:c.*88_*90dup, XM_047422293.1:c.*87_*90dup, XM_047422293.1:c.*86_*90dup, XM_047422293.1:c.*85_*90dup, XM_047422293.1:c.*84_*90dup, XM_047422293.1:c.*83_*90dup, XM_047422293.1:c.*82_*90dup, XM_047422293.1:c.*81_*90dup, XM_047422293.1:c.*80_*90dup, XM_047422293.1:c.*79_*90dup, XM_047422293.1:c.*78_*90dup, XM_047422293.1:c.*77_*90dup, XM_047422293.1:c.*76_*90dup, XM_047422293.1:c.*75_*90dup, XM_047422293.1:c.*74_*90dup, XM_047422293.1:c.*73_*90dup, XM_047422293.1:c.*72_*90dup, XM_047422293.1:c.*71_*90dup, XM_047422293.1:c.*70_*90dup, XM_047422293.1:c.*69_*90dup, XM_047422293.1:c.*68_*90dup, XM_047422293.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422293.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422293.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422293.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422293.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422293.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422293.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422293.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422293.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422293.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422293.1:c.*68_*90T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047422293.1:c.*68_*90T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047422293.1:c.*68_*90T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047422291.1:c.*76_*90del, XM_047422291.1:c.*78_*90del, XM_047422291.1:c.*79_*90del, XM_047422291.1:c.*80_*90del, XM_047422291.1:c.*81_*90del, XM_047422291.1:c.*82_*90del, XM_047422291.1:c.*83_*90del, XM_047422291.1:c.*84_*90del, XM_047422291.1:c.*85_*90del, XM_047422291.1:c.*86_*90del, XM_047422291.1:c.*87_*90del, XM_047422291.1:c.*88_*90del, XM_047422291.1:c.*89_*90del, XM_047422291.1:c.*90del, XM_047422291.1:c.*90dup, XM_047422291.1:c.*89_*90dup, XM_047422291.1:c.*88_*90dup, XM_047422291.1:c.*87_*90dup, XM_047422291.1:c.*86_*90dup, XM_047422291.1:c.*85_*90dup, XM_047422291.1:c.*84_*90dup, XM_047422291.1:c.*83_*90dup, XM_047422291.1:c.*82_*90dup, XM_047422291.1:c.*81_*90dup, XM_047422291.1:c.*80_*90dup, XM_047422291.1:c.*79_*90dup, XM_047422291.1:c.*78_*90dup, XM_047422291.1:c.*77_*90dup, XM_047422291.1:c.*76_*90dup, XM_047422291.1:c.*75_*90dup, XM_047422291.1:c.*74_*90dup, XM_047422291.1:c.*73_*90dup, XM_047422291.1:c.*72_*90dup, XM_047422291.1:c.*71_*90dup, XM_047422291.1:c.*70_*90dup, XM_047422291.1:c.*69_*90dup, XM_047422291.1:c.*68_*90dup, XM_047422291.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422291.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422291.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422291.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422291.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422291.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422291.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422291.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422291.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422291.1:c.*90_*91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047422291.1:c.*68_*90T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047422291.1:c.*68_*90T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047422291.1:c.*68_*90T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14909415272.

rs1490941527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143865655 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:143865654:C:T
Gene:: EPPK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (GnomAD)
T=0.00012/2 (TOMMO)
HGVS:: NC_000008.11:g.143865655C>T, NW_003315923.1:g.204300C>T, NG_033825.1:g.17810G>A, NM_031308.4:c.7599G>A, NM_031308.3:c.7599G>A, NM_031308.2:c.7599G>A, XM_017013890.2:c.7599G>A, XM_017013890.1:c.7599G>A, XM_017013892.2:c.7599G>A, XM_017013892.1:c.7698G>A, XM_047422292.1:c.7650G>A, XM_047422293.1:c.7599G>A, XM_047422291.1:c.7680G>A

Select item 14908226633.

rs1490822663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:143858912 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:143858911:C:A,NC_000008.11:143858911:C:T
Gene:: EPPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00103/89 (GnomAD)
HGVS:: NC_000008.11:g.143858912C>A, NC_000008.11:g.143858912C>T, NW_003315923.1:g.197557C>A, NW_003315923.1:g.197557C>T, NG_033825.1:g.24553G>T, NG_033825.1:g.24553G>A, NM_031308.4:c.14342G>T, NM_031308.4:c.14342G>A, NM_031308.3:c.14342G>T, NM_031308.3:c.14342G>A, NM_031308.2:c.14342G>T, NM_031308.2:c.14342G>A, XM_017013890.2:c.14342G>T, XM_017013890.2:c.14342G>A, XM_017013890.1:c.14342G>T, XM_017013890.1:c.14342G>A, XM_017013892.2:c.11141G>T, XM_017013892.2:c.11141G>A, XM_017013892.1:c.11240G>T, XM_017013892.1:c.11240G>A, XM_047422292.1:c.14393G>T, XM_047422292.1:c.14393G>A, XM_047422293.1:c.14342G>T, XM_047422293.1:c.14342G>A, XM_047422291.1:c.14423G>T, XM_047422291.1:c.14423G>A, NP_112598.3:p.Arg4781Leu, NP_112598.3:p.Arg4781His, XP_016869379.1:p.Arg4781Leu, XP_016869379.1:p.Arg4781His, XP_016869381.2:p.Arg3714Leu, XP_016869381.2:p.Arg3714His, XP_047278248.1:p.Arg4798Leu, XP_047278248.1:p.Arg4798His, XP_047278249.1:p.Arg4781Leu, XP_047278249.1:p.Arg4781His, XP_047278247.1:p.Arg4808Leu, XP_047278247.1:p.Arg4808His

Select item 14905494554.

rs1490549455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:143876711 (GRCh38)
8:144950879 (GRCh37)
Canonical SPDI:: NC_000008.11:143876710:C:A
Gene:: EPPK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.143876711C>A, NC_000008.10:g.144950879C>A, NG_033825.1:g.6754G>T, NW_003315923.1:g.215356C>A

Select item 14903816085.

rs1490381608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:143859089 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:143859088:C:A,NC_000008.11:143859088:C:G,NC_000008.11:143859088:C:T
Gene:: EPPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00287/5 (Korea1K)
T=0.00816/230 (TOMMO)
HGVS:: NC_000008.11:g.143859089C>A, NC_000008.11:g.143859089C>G, NC_000008.11:g.143859089C>T, NW_003315923.1:g.197734C>A, NW_003315923.1:g.197734C>G, NW_003315923.1:g.197734C>T, NG_033825.1:g.24376G>T, NG_033825.1:g.24376G>C, NG_033825.1:g.24376G>A, NM_031308.4:c.14165G>T, NM_031308.4:c.14165G>C, NM_031308.4:c.14165G>A, NM_031308.3:c.14165G>T, NM_031308.3:c.14165G>C, NM_031308.3:c.14165G>A, NM_031308.2:c.14165G>T, NM_031308.2:c.14165G>C, NM_031308.2:c.14165G>A, XM_017013890.2:c.14165G>T, XM_017013890.2:c.14165G>C, XM_017013890.2:c.14165G>A, XM_017013890.1:c.14165G>T, XM_017013890.1:c.14165G>C, XM_017013890.1:c.14165G>A, XM_047422292.1:c.14216G>T, XM_047422292.1:c.14216G>C, XM_047422292.1:c.14216G>A, XM_047422293.1:c.14165G>T, XM_047422293.1:c.14165G>C, XM_047422293.1:c.14165G>A, XM_047422291.1:c.14246G>T, XM_047422291.1:c.14246G>C, XM_047422291.1:c.14246G>A, NP_112598.3:p.Arg4722Leu, NP_112598.3:p.Arg4722Pro, NP_112598.3:p.Arg4722Gln, XP_016869379.1:p.Arg4722Leu, XP_016869379.1:p.Arg4722Pro, XP_016869379.1:p.Arg4722Gln, XP_047278248.1:p.Arg4739Leu, XP_047278248.1:p.Arg4739Pro, XP_047278248.1:p.Arg4739Gln, XP_047278249.1:p.Arg4722Leu, XP_047278249.1:p.Arg4722Pro, XP_047278249.1:p.Arg4722Gln, XP_047278247.1:p.Arg4749Leu, XP_047278247.1:p.Arg4749Pro, XP_047278247.1:p.Arg4749Gln

Select item 14903568196.

rs1490356819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143859138 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:143859137:G:A
Gene:: EPPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.143859138G>A, NW_003315923.1:g.197783G>A, NG_033825.1:g.24327C>T, NM_031308.4:c.14116C>T, NM_031308.3:c.14116C>T, NM_031308.2:c.14116C>T, XM_017013890.2:c.14116C>T, XM_017013890.1:c.14116C>T, XM_047422292.1:c.14167C>T, XM_047422293.1:c.14116C>T, XM_047422291.1:c.14197C>T, NP_112598.3:p.Arg4706Cys, XP_016869379.1:p.Arg4706Cys, XP_047278248.1:p.Arg4723Cys, XP_047278249.1:p.Arg4706Cys, XP_047278247.1:p.Arg4733Cys

Select item 14902383267.

rs1490238326 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCGG>- [Show Flanks]
Chromosome:: 8:143878022 (GRCh38)
8:144952190 (GRCh37)
Canonical SPDI:: NC_000008.11:143878020:GTCGG:G
Gene:: EPPK1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.143878022_143878025del, NC_000008.10:g.144952190_144952193del, NG_033825.1:g.5441_5444del, NW_003315923.1:g.216667_216670del, XM_047422293.1:c.-159_-156del

Select item 14902236068.

rs1490223606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143877280 (GRCh38)
8:144951448 (GRCh37)
Canonical SPDI:: NC_000008.11:143877279:G:A
Gene:: EPPK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.143877280G>A, NC_000008.10:g.144951448G>A, NG_033825.1:g.6185C>T, NW_003315923.1:g.215925G>A

Select item 14900948289.

rs1490094828 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTG>- [Show Flanks]
Chromosome:: 8:143871688 (GRCh38)
8:144945856 (GRCh37)
Canonical SPDI:: NC_000008.11:143871682:CTCTGCTCTG:CTCTG
Gene:: EPPK1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CTCTGCTCTG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.143871683CTCTG[1], NC_000008.10:g.144945851CTCTG[1], NG_033825.1:g.11773CAGAG[1], NM_031308.4:c.1567_1571del, NM_031308.3:c.1567_1571del, NM_031308.2:c.1567_1571del, NW_003315923.1:g.210328CTCTG[1], XM_017013890.2:c.1567_1571del, XM_017013890.1:c.1567_1571del, XM_017013892.2:c.1567_1571del, XM_017013892.1:c.1666_1670del, XM_047422292.1:c.1618_1622del, XM_047422293.1:c.1567_1571del, XM_047422291.1:c.1648_1652del, NP_112598.3:p.Gln523fs, XP_016869379.1:p.Gln523fs, XP_016869381.2:p.Gln523fs, XP_047278248.1:p.Gln540fs, XP_047278249.1:p.Gln523fs, XP_047278247.1:p.Gln550fs

Select item 149007656210.

rs1490076562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:143860355 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:143860354:G:A,NC_000008.11:143860354:G:C
Gene:: EPPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.00015/1 (GnomAD)
HGVS:: NC_000008.11:g.143860355G>A, NC_000008.11:g.143860355G>C, NW_003315923.1:g.199000G>A, NW_003315923.1:g.199000G>C, NG_033825.1:g.23110C>T, NG_033825.1:g.23110C>G, NM_031308.4:c.12899C>T, NM_031308.4:c.12899C>G, NM_031308.3:c.12899C>T, NM_031308.3:c.12899C>G, NM_031308.2:c.12899C>T, NM_031308.2:c.12899C>G, XM_017013890.2:c.12899C>T, XM_017013890.2:c.12899C>G, XM_017013890.1:c.12899C>T, XM_017013890.1:c.12899C>G, XM_047422292.1:c.12950C>T, XM_047422292.1:c.12950C>G, XM_047422293.1:c.12899C>T, XM_047422293.1:c.12899C>G, XM_047422291.1:c.12980C>T, XM_047422291.1:c.12980C>G, NP_112598.3:p.Thr4300Met, NP_112598.3:p.Thr4300Arg, XP_016869379.1:p.Thr4300Met, XP_016869379.1:p.Thr4300Arg, XP_047278248.1:p.Thr4317Met, XP_047278248.1:p.Thr4317Arg, XP_047278249.1:p.Thr4300Met, XP_047278249.1:p.Thr4300Arg, XP_047278247.1:p.Thr4327Met, XP_047278247.1:p.Thr4327Arg

Select item 149005150611.

rs1490051506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143859541 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:143859540:G:A
Gene:: EPPK1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00194/23 (ALFA)
A=0.00016/11 (GnomAD)
A=0.00359/23 (1000Genomes)
HGVS:: NC_000008.11:g.143859541G>A, NW_003315923.1:g.198186G>A, NG_033825.1:g.23924C>T, NM_031308.4:c.13713C>T, NM_031308.3:c.13713C>T, NM_031308.2:c.13713C>T, XM_017013890.2:c.13713C>T, XM_017013890.1:c.13713C>T, XM_047422292.1:c.13764C>T, XM_047422293.1:c.13713C>T, XM_047422291.1:c.13794C>T

Select item 148991924712.

rs1489919247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143859915 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:143859914:C:T
Gene:: EPPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00051/6 (ALFA)
T=0.00075/39 (GnomAD)
HGVS:: NC_000008.11:g.143859915C>T, NW_003315923.1:g.198560C>T, NG_033825.1:g.23550G>A, NM_031308.4:c.13339G>A, NM_031308.3:c.13339G>A, NM_031308.2:c.13339G>A, XM_017013890.2:c.13339G>A, XM_017013890.1:c.13339G>A, XM_047422292.1:c.13390G>A, XM_047422293.1:c.13339G>A, XM_047422291.1:c.13420G>A, NP_112598.3:p.Asp4447Asn, XP_016869379.1:p.Asp4447Asn, XP_047278248.1:p.Asp4464Asn, XP_047278249.1:p.Asp4447Asn, XP_047278247.1:p.Asp4474Asn

Select item 148989274513.

rs1489892745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143859295 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:143859294:G:A
Gene:: EPPK1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003878/46 (ALFA)
A=0.003535/454 (GnomAD)
A=0.010306/66 (1000Genomes)
HGVS:: NC_000008.11:g.143859295G>A, NW_003315923.1:g.197940G>A, NG_033825.1:g.24170C>T, NM_031308.4:c.13959C>T, NM_031308.3:c.13959C>T, NM_031308.2:c.13959C>T, XM_017013890.2:c.13959C>T, XM_017013890.1:c.13959C>T, XM_047422292.1:c.14010C>T, XM_047422293.1:c.13959C>T, XM_047422291.1:c.14040C>T

Select item 148984488914.

rs1489844889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:143876699 (GRCh38)
8:144950867 (GRCh37)
Canonical SPDI:: NC_000008.11:143876698:A:G
Gene:: EPPK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.143876699A>G, NC_000008.10:g.144950867A>G, NG_033825.1:g.6766T>C, NW_003315923.1:g.215344A>G

Select item 148969424515.

rs1489694245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143875486 (GRCh38)
8:144949654 (GRCh37)
Canonical SPDI:: NC_000008.11:143875485:G:A
Gene:: EPPK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.143875486G>A, NC_000008.10:g.144949654G>A, NG_033825.1:g.7979C>T, NW_003315923.1:g.214131G>A