SNP Links for Protein (Select 1237937983) - SNP

Links from Protein

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Select item 14909727951.

rs1490972795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:95485762 (GRCh38)
9:98248044 (GRCh37)
Canonical SPDI:: NC_000009.12:95485761:G:A,NC_000009.12:95485761:G:C
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.95485762G>A, NC_000009.12:g.95485762G>C, NC_000009.11:g.98248044G>A, NC_000009.11:g.98248044G>C, NG_007664.1:g.36204C>T, NG_007664.1:g.36204C>G, NM_000264.5:c.507C>T, NM_000264.5:c.507C>G, NM_000264.4:c.507C>T, NM_000264.4:c.507C>G, NM_000264.3:c.507C>T, NM_000264.3:c.507C>G, NM_001083602.3:c.309C>T, NM_001083602.3:c.309C>G, NM_001083602.2:c.309C>T, NM_001083602.2:c.309C>G, NM_001083602.1:c.309C>T, NM_001083602.1:c.309C>G, NM_001083603.3:c.504C>T, NM_001083603.3:c.504C>G, NM_001083603.2:c.504C>T, NM_001083603.2:c.504C>G, NM_001083603.1:c.504C>T, NM_001083603.1:c.504C>G, NM_001083607.3:c.54C>T, NM_001083607.3:c.54C>G, NM_001083607.2:c.54C>T, NM_001083607.2:c.54C>G, NM_001083607.1:c.54C>T, NM_001083607.1:c.54C>G, NM_001083606.3:c.54C>T, NM_001083606.3:c.54C>G, NM_001083606.2:c.54C>T, NM_001083606.2:c.54C>G, NM_001083606.1:c.54C>T, NM_001083606.1:c.54C>G, NM_001083604.3:c.54C>T, NM_001083604.3:c.54C>G, NM_001083604.2:c.54C>T, NM_001083604.2:c.54C>G, NM_001083604.1:c.54C>T, NM_001083604.1:c.54C>G, NM_001083605.3:c.54C>T, NM_001083605.3:c.54C>G, NM_001083605.2:c.54C>T, NM_001083605.2:c.54C>G, NM_001083605.1:c.54C>T, NM_001083605.1:c.54C>G, NM_001354918.2:c.507C>T, NM_001354918.2:c.507C>G, NM_001354918.1:c.507C>T, NM_001354918.1:c.507C>G, NR_149061.2:n.1412C>T, NR_149061.2:n.1412C>G, NR_149061.1:n.695C>T, NR_149061.1:n.695C>G, NM_001354919.2:c.309C>T, NM_001354919.2:c.309C>G, NM_001354919.1:c.309C>T, NM_001354919.1:c.309C>G

Select item 14904828162.

rs1490482816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 9:95506465 (GRCh38)
9:98268747 (GRCh37)
Canonical SPDI:: NC_000009.12:95506464:G:A,NC_000009.12:95506464:G:C,NC_000009.12:95506464:G:T
Gene:: PTCH1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.95506465G>A, NC_000009.12:g.95506465G>C, NC_000009.12:g.95506465G>T, NC_000009.11:g.98268747G>A, NC_000009.11:g.98268747G>C, NC_000009.11:g.98268747G>T, NG_007664.1:g.15501C>T, NG_007664.1:g.15501C>G, NG_007664.1:g.15501C>A, NM_000264.5:c.336C>T, NM_000264.5:c.336C>G, NM_000264.5:c.336C>A, NM_000264.4:c.336C>T, NM_000264.4:c.336C>G, NM_000264.4:c.336C>A, NM_000264.3:c.336C>T, NM_000264.3:c.336C>G, NM_000264.3:c.336C>A, NM_001083602.3:c.138C>T, NM_001083602.3:c.138C>G, NM_001083602.3:c.138C>A, NM_001083602.2:c.138C>T, NM_001083602.2:c.138C>G, NM_001083602.2:c.138C>A, NM_001083602.1:c.138C>T, NM_001083602.1:c.138C>G, NM_001083602.1:c.138C>A, NM_001083603.3:c.333C>T, NM_001083603.3:c.333C>G, NM_001083603.3:c.333C>A, NM_001083603.2:c.333C>T, NM_001083603.2:c.333C>G, NM_001083603.2:c.333C>A, NM_001083603.1:c.333C>T, NM_001083603.1:c.333C>G, NM_001083603.1:c.333C>A, NM_001083607.3:c.-118C>T, NM_001083607.3:c.-118C>G, NM_001083607.3:c.-118C>A, NM_001083607.2:c.-118C>T, NM_001083607.2:c.-118C>G, NM_001083607.2:c.-118C>A, NM_001083607.1:c.-118C>T, NM_001083607.1:c.-118C>G, NM_001083607.1:c.-118C>A, NM_001083606.3:c.-118C>T, NM_001083606.3:c.-118C>G, NM_001083606.3:c.-118C>A, NM_001083606.2:c.-118C>T, NM_001083606.2:c.-118C>G, NM_001083606.2:c.-118C>A, NM_001083606.1:c.-118C>T, NM_001083606.1:c.-118C>G, NM_001083606.1:c.-118C>A, NM_001083604.3:c.-118C>T, NM_001083604.3:c.-118C>G, NM_001083604.3:c.-118C>A, NM_001083604.2:c.-118C>T, NM_001083604.2:c.-118C>G, NM_001083604.2:c.-118C>A, NM_001083604.1:c.-118C>T, NM_001083604.1:c.-118C>G, NM_001083604.1:c.-118C>A, NM_001083605.3:c.-118C>T, NM_001083605.3:c.-118C>G, NM_001083605.3:c.-118C>A, NM_001083605.2:c.-118C>T, NM_001083605.2:c.-118C>G, NM_001083605.2:c.-118C>A, NM_001083605.1:c.-118C>T, NM_001083605.1:c.-118C>G, NM_001083605.1:c.-118C>A, NM_001354918.2:c.336C>T, NM_001354918.2:c.336C>G, NM_001354918.2:c.336C>A, NM_001354918.1:c.336C>T, NM_001354918.1:c.336C>G, NM_001354918.1:c.336C>A, NR_149061.2:n.1241C>T, NR_149061.2:n.1241C>G, NR_149061.2:n.1241C>A, NR_149061.1:n.524C>T, NR_149061.1:n.524C>G, NR_149061.1:n.524C>A, NM_001354919.2:c.138C>T, NM_001354919.2:c.138C>G, NM_001354919.2:c.138C>A, NM_001354919.1:c.138C>T, NM_001354919.1:c.138C>G, NM_001354919.1:c.138C>A, NP_000255.2:p.Phe112Leu, NP_000255.2:p.Phe112Leu, NP_001077071.1:p.Phe46Leu, NP_001077071.1:p.Phe46Leu, NP_001077072.1:p.Phe111Leu, NP_001077072.1:p.Phe111Leu, NP_001341847.1:p.Phe112Leu, NP_001341847.1:p.Phe112Leu, NP_001341848.1:p.Phe46Leu, NP_001341848.1:p.Phe46Leu

Select item 14856354343.

rs1485635434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:95485864 (GRCh38)
9:98248146 (GRCh37)
Canonical SPDI:: NC_000009.12:95485863:T:C
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95485864T>C, NC_000009.11:g.98248146T>C, NG_007664.1:g.36102A>G, NM_000264.5:c.405A>G, NM_000264.4:c.405A>G, NM_000264.3:c.405A>G, NM_001083602.3:c.207A>G, NM_001083602.2:c.207A>G, NM_001083602.1:c.207A>G, NM_001083603.3:c.402A>G, NM_001083603.2:c.402A>G, NM_001083603.1:c.402A>G, NM_001083607.3:c.-49A>G, NM_001083607.2:c.-49A>G, NM_001083607.1:c.-49A>G, NM_001083606.3:c.-49A>G, NM_001083606.2:c.-49A>G, NM_001083606.1:c.-49A>G, NM_001083604.3:c.-49A>G, NM_001083604.2:c.-49A>G, NM_001083604.1:c.-49A>G, NM_001083605.3:c.-49A>G, NM_001083605.2:c.-49A>G, NM_001083605.1:c.-49A>G, NM_001354918.2:c.405A>G, NM_001354918.1:c.405A>G, NR_149061.2:n.1310A>G, NR_149061.1:n.593A>G, NM_001354919.2:c.207A>G, NM_001354919.1:c.207A>G

Select item 14800280404.

rs1480028040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:95485698 (GRCh38)
9:98247980 (GRCh37)
Canonical SPDI:: NC_000009.12:95485697:A:G
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95485698A>G, NC_000009.11:g.98247980A>G, NG_007664.1:g.36268T>C, NM_000264.5:c.571T>C, NM_000264.4:c.571T>C, NM_000264.3:c.571T>C, NM_001083602.3:c.373T>C, NM_001083602.2:c.373T>C, NM_001083602.1:c.373T>C, NM_001083603.3:c.568T>C, NM_001083603.2:c.568T>C, NM_001083603.1:c.568T>C, NM_001083607.3:c.118T>C, NM_001083607.2:c.118T>C, NM_001083607.1:c.118T>C, NM_001083606.3:c.118T>C, NM_001083606.2:c.118T>C, NM_001083606.1:c.118T>C, NM_001083604.3:c.118T>C, NM_001083604.2:c.118T>C, NM_001083604.1:c.118T>C, NM_001083605.3:c.118T>C, NM_001083605.2:c.118T>C, NM_001083605.1:c.118T>C, NM_001354918.2:c.571T>C, NM_001354918.1:c.571T>C, NR_149061.2:n.1476T>C, NR_149061.1:n.759T>C, NM_001354919.2:c.373T>C, NM_001354919.1:c.373T>C, NP_000255.2:p.Tyr191His, NP_001077071.1:p.Tyr125His, NP_001077072.1:p.Tyr190His, NP_001077076.1:p.Tyr40His, NP_001077075.1:p.Tyr40His, NP_001077073.1:p.Tyr40His, NP_001077074.1:p.Tyr40His, NP_001341847.1:p.Tyr191His, NP_001341848.1:p.Tyr125His

Select item 14799735865.

rs1479973586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:95482032 (GRCh38)
9:98244314 (GRCh37)
Canonical SPDI:: NC_000009.12:95482031:T:C
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95482032T>C, NC_000009.11:g.98244314T>C, NG_007664.1:g.39934A>G, NM_000264.5:c.663A>G, NM_000264.4:c.663A>G, NM_000264.3:c.663A>G, NM_001083602.3:c.465A>G, NM_001083602.2:c.465A>G, NM_001083602.1:c.465A>G, NM_001083603.3:c.660A>G, NM_001083603.2:c.660A>G, NM_001083603.1:c.660A>G, NM_001083607.3:c.210A>G, NM_001083607.2:c.210A>G, NM_001083607.1:c.210A>G, NM_001083606.3:c.210A>G, NM_001083606.2:c.210A>G, NM_001083606.1:c.210A>G, NM_001083604.3:c.210A>G, NM_001083604.2:c.210A>G, NM_001083604.1:c.210A>G, NM_001083605.3:c.210A>G, NM_001083605.2:c.210A>G, NM_001083605.1:c.210A>G, NM_001354918.2:c.663A>G, NM_001354918.1:c.663A>G, NR_149061.2:n.1568A>G, NR_149061.1:n.851A>G, NM_001354919.2:c.465A>G, NM_001354919.1:c.465A>G

Select item 14798710066.

rs1479871006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:95506435 (GRCh38)
9:98268717 (GRCh37)
Canonical SPDI:: NC_000009.12:95506434:C:G,NC_000009.12:95506434:C:T
Gene:: PTCH1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance,likely-benign
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95506435C>G, NC_000009.12:g.95506435C>T, NC_000009.11:g.98268717C>G, NC_000009.11:g.98268717C>T, NG_007664.1:g.15531G>C, NG_007664.1:g.15531G>A, NM_000264.5:c.366G>C, NM_000264.5:c.366G>A, NM_000264.4:c.366G>C, NM_000264.4:c.366G>A, NM_000264.3:c.366G>C, NM_000264.3:c.366G>A, NM_001083602.3:c.168G>C, NM_001083602.3:c.168G>A, NM_001083602.2:c.168G>C, NM_001083602.2:c.168G>A, NM_001083602.1:c.168G>C, NM_001083602.1:c.168G>A, NM_001083603.3:c.363G>C, NM_001083603.3:c.363G>A, NM_001083603.2:c.363G>C, NM_001083603.2:c.363G>A, NM_001083603.1:c.363G>C, NM_001083603.1:c.363G>A, NM_001083607.3:c.-88G>C, NM_001083607.3:c.-88G>A, NM_001083607.2:c.-88G>C, NM_001083607.2:c.-88G>A, NM_001083607.1:c.-88G>C, NM_001083607.1:c.-88G>A, NM_001083606.3:c.-88G>C, NM_001083606.3:c.-88G>A, NM_001083606.2:c.-88G>C, NM_001083606.2:c.-88G>A, NM_001083606.1:c.-88G>C, NM_001083606.1:c.-88G>A, NM_001083604.3:c.-88G>C, NM_001083604.3:c.-88G>A, NM_001083604.2:c.-88G>C, NM_001083604.2:c.-88G>A, NM_001083604.1:c.-88G>C, NM_001083604.1:c.-88G>A, NM_001083605.3:c.-88G>C, NM_001083605.3:c.-88G>A, NM_001083605.2:c.-88G>C, NM_001083605.2:c.-88G>A, NM_001083605.1:c.-88G>C, NM_001083605.1:c.-88G>A, NM_001354918.2:c.366G>C, NM_001354918.2:c.366G>A, NM_001354918.1:c.366G>C, NM_001354918.1:c.366G>A, NR_149061.2:n.1271G>C, NR_149061.2:n.1271G>A, NR_149061.1:n.554G>C, NR_149061.1:n.554G>A, NM_001354919.2:c.168G>C, NM_001354919.2:c.168G>A, NM_001354919.1:c.168G>C, NM_001354919.1:c.168G>A, NP_000255.2:p.Glu122Asp, NP_001077071.1:p.Glu56Asp, NP_001077072.1:p.Glu121Asp, NP_001341847.1:p.Glu122Asp, NP_001341848.1:p.Glu56Asp

Select item 14616069977.

rs1461606997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:95485726 (GRCh38)
9:98248008 (GRCh37)
Canonical SPDI:: NC_000009.12:95485725:C:A,NC_000009.12:95485725:C:T
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95485726C>A, NC_000009.12:g.95485726C>T, NC_000009.11:g.98248008C>A, NC_000009.11:g.98248008C>T, NG_007664.1:g.36240G>T, NG_007664.1:g.36240G>A, NM_000264.5:c.543G>T, NM_000264.5:c.543G>A, NM_000264.4:c.543G>T, NM_000264.4:c.543G>A, NM_000264.3:c.543G>T, NM_000264.3:c.543G>A, NM_001083602.3:c.345G>T, NM_001083602.3:c.345G>A, NM_001083602.2:c.345G>T, NM_001083602.2:c.345G>A, NM_001083602.1:c.345G>T, NM_001083602.1:c.345G>A, NM_001083603.3:c.540G>T, NM_001083603.3:c.540G>A, NM_001083603.2:c.540G>T, NM_001083603.2:c.540G>A, NM_001083603.1:c.540G>T, NM_001083603.1:c.540G>A, NM_001083607.3:c.90G>T, NM_001083607.3:c.90G>A, NM_001083607.2:c.90G>T, NM_001083607.2:c.90G>A, NM_001083607.1:c.90G>T, NM_001083607.1:c.90G>A, NM_001083606.3:c.90G>T, NM_001083606.3:c.90G>A, NM_001083606.2:c.90G>T, NM_001083606.2:c.90G>A, NM_001083606.1:c.90G>T, NM_001083606.1:c.90G>A, NM_001083604.3:c.90G>T, NM_001083604.3:c.90G>A, NM_001083604.2:c.90G>T, NM_001083604.2:c.90G>A, NM_001083604.1:c.90G>T, NM_001083604.1:c.90G>A, NM_001083605.3:c.90G>T, NM_001083605.3:c.90G>A, NM_001083605.2:c.90G>T, NM_001083605.2:c.90G>A, NM_001083605.1:c.90G>T, NM_001083605.1:c.90G>A, NM_001354918.2:c.543G>T, NM_001354918.2:c.543G>A, NM_001354918.1:c.543G>T, NM_001354918.1:c.543G>A, NR_149061.2:n.1448G>T, NR_149061.2:n.1448G>A, NR_149061.1:n.731G>T, NR_149061.1:n.731G>A, NM_001354919.2:c.345G>T, NM_001354919.2:c.345G>A, NM_001354919.1:c.345G>T, NM_001354919.1:c.345G>A

Select item 14576973498.

rs1457697349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:95506588 (GRCh38)
9:98268870 (GRCh37)
Canonical SPDI:: NC_000009.12:95506587:A:G
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.95506588A>G, NC_000009.11:g.98268870A>G, NG_007664.1:g.15378T>C, NM_000264.5:c.213T>C, NM_000264.4:c.213T>C, NM_000264.3:c.213T>C, NM_001083602.3:c.15T>C, NM_001083602.2:c.15T>C, NM_001083602.1:c.15T>C, NM_001083603.3:c.210T>C, NM_001083603.2:c.210T>C, NM_001083603.1:c.210T>C, NM_001083607.3:c.-241T>C, NM_001083607.2:c.-241T>C, NM_001083607.1:c.-241T>C, NM_001083606.3:c.-241T>C, NM_001083606.2:c.-241T>C, NM_001083606.1:c.-241T>C, NM_001083604.3:c.-241T>C, NM_001083604.2:c.-241T>C, NM_001083604.1:c.-241T>C, NM_001083605.3:c.-241T>C, NM_001083605.2:c.-241T>C, NM_001083605.1:c.-241T>C, NM_001354918.2:c.213T>C, NM_001354918.1:c.213T>C, NR_149061.2:n.1118T>C, NR_149061.1:n.401T>C, NM_001354919.2:c.15T>C, NM_001354919.1:c.15T>C

Select item 14522566229.

rs1452256622 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:95482011 (GRCh38)
9:98244293 (GRCh37)
Canonical SPDI:: NC_000009.12:95482010:A:G
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95482011A>G, NC_000009.11:g.98244293A>G, NG_007664.1:g.39955T>C, NM_000264.5:c.684T>C, NM_000264.4:c.684T>C, NM_000264.3:c.684T>C, NM_001083602.3:c.486T>C, NM_001083602.2:c.486T>C, NM_001083602.1:c.486T>C, NM_001083603.3:c.681T>C, NM_001083603.2:c.681T>C, NM_001083603.1:c.681T>C, NM_001083607.3:c.231T>C, NM_001083607.2:c.231T>C, NM_001083607.1:c.231T>C, NM_001083606.3:c.231T>C, NM_001083606.2:c.231T>C, NM_001083606.1:c.231T>C, NM_001083604.3:c.231T>C, NM_001083604.2:c.231T>C, NM_001083604.1:c.231T>C, NM_001083605.3:c.231T>C, NM_001083605.2:c.231T>C, NM_001083605.1:c.231T>C, NM_001354918.2:c.684T>C, NM_001354918.1:c.684T>C, NR_149061.2:n.1589T>C, NR_149061.1:n.872T>C, NM_001354919.2:c.486T>C, NM_001354919.1:c.486T>C

Select item 144823508710.

rs1448235087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:95506591 (GRCh38)
9:98268873 (GRCh37)
Canonical SPDI:: NC_000009.12:95506590:A:G,NC_000009.12:95506590:A:T
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.95506591A>G, NC_000009.12:g.95506591A>T, NC_000009.11:g.98268873A>G, NC_000009.11:g.98268873A>T, NG_007664.1:g.15375T>C, NG_007664.1:g.15375T>A, NM_000264.5:c.210T>C, NM_000264.5:c.210T>A, NM_000264.4:c.210T>C, NM_000264.4:c.210T>A, NM_000264.3:c.210T>C, NM_000264.3:c.210T>A, NM_001083602.3:c.12T>C, NM_001083602.3:c.12T>A, NM_001083602.2:c.12T>C, NM_001083602.2:c.12T>A, NM_001083602.1:c.12T>C, NM_001083602.1:c.12T>A, NM_001083603.3:c.207T>C, NM_001083603.3:c.207T>A, NM_001083603.2:c.207T>C, NM_001083603.2:c.207T>A, NM_001083603.1:c.207T>C, NM_001083603.1:c.207T>A, NM_001083607.3:c.-244T>C, NM_001083607.3:c.-244T>A, NM_001083607.2:c.-244T>C, NM_001083607.2:c.-244T>A, NM_001083607.1:c.-244T>C, NM_001083607.1:c.-244T>A, NM_001083606.3:c.-244T>C, NM_001083606.3:c.-244T>A, NM_001083606.2:c.-244T>C, NM_001083606.2:c.-244T>A, NM_001083606.1:c.-244T>C, NM_001083606.1:c.-244T>A, NM_001083604.3:c.-244T>C, NM_001083604.3:c.-244T>A, NM_001083604.2:c.-244T>C, NM_001083604.2:c.-244T>A, NM_001083604.1:c.-244T>C, NM_001083604.1:c.-244T>A, NM_001083605.3:c.-244T>C, NM_001083605.3:c.-244T>A, NM_001083605.2:c.-244T>C, NM_001083605.2:c.-244T>A, NM_001083605.1:c.-244T>C, NM_001083605.1:c.-244T>A, NM_001354918.2:c.210T>C, NM_001354918.2:c.210T>A, NM_001354918.1:c.210T>C, NM_001354918.1:c.210T>A, NR_149061.2:n.1115T>C, NR_149061.2:n.1115T>A, NR_149061.1:n.398T>C, NR_149061.1:n.398T>A, NM_001354919.2:c.12T>C, NM_001354919.2:c.12T>A, NM_001354919.1:c.12T>C, NM_001354919.1:c.12T>A

Select item 144488318911.

rs1444883189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:95506558 (GRCh38)
9:98268840 (GRCh37)
Canonical SPDI:: NC_000009.12:95506557:C:G,NC_000009.12:95506557:C:T
Gene:: PTCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95506558C>G, NC_000009.12:g.95506558C>T, NC_000009.11:g.98268840C>G, NC_000009.11:g.98268840C>T, NG_007664.1:g.15408G>C, NG_007664.1:g.15408G>A, NM_000264.5:c.243G>C, NM_000264.5:c.243G>A, NM_000264.4:c.243G>C, NM_000264.4:c.243G>A, NM_000264.3:c.243G>C, NM_000264.3:c.243G>A, NM_001083602.3:c.45G>C, NM_001083602.3:c.45G>A, NM_001083602.2:c.45G>C, NM_001083602.2:c.45G>A, NM_001083602.1:c.45G>C, NM_001083602.1:c.45G>A, NM_001083603.3:c.240G>C, NM_001083603.3:c.240G>A, NM_001083603.2:c.240G>C, NM_001083603.2:c.240G>A, NM_001083603.1:c.240G>C, NM_001083603.1:c.240G>A, NM_001083607.3:c.-211G>C, NM_001083607.3:c.-211G>A, NM_001083607.2:c.-211G>C, NM_001083607.2:c.-211G>A, NM_001083607.1:c.-211G>C, NM_001083607.1:c.-211G>A, NM_001083606.3:c.-211G>C, NM_001083606.3:c.-211G>A, NM_001083606.2:c.-211G>C, NM_001083606.2:c.-211G>A, NM_001083606.1:c.-211G>C, NM_001083606.1:c.-211G>A, NM_001083604.3:c.-211G>C, NM_001083604.3:c.-211G>A, NM_001083604.2:c.-211G>C, NM_001083604.2:c.-211G>A, NM_001083604.1:c.-211G>C, NM_001083604.1:c.-211G>A, NM_001083605.3:c.-211G>C, NM_001083605.3:c.-211G>A, NM_001083605.2:c.-211G>C, NM_001083605.2:c.-211G>A, NM_001083605.1:c.-211G>C, NM_001083605.1:c.-211G>A, NM_001354918.2:c.243G>C, NM_001354918.2:c.243G>A, NM_001354918.1:c.243G>C, NM_001354918.1:c.243G>A, NR_149061.2:n.1148G>C, NR_149061.2:n.1148G>A, NR_149061.1:n.431G>C, NR_149061.1:n.431G>A, NM_001354919.2:c.45G>C, NM_001354919.2:c.45G>A, NM_001354919.1:c.45G>C, NM_001354919.1:c.45G>A

Select item 144175839012.

rs1441758390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:95481959 (GRCh38)
9:98244241 (GRCh37)
Canonical SPDI:: NC_000009.12:95481958:C:G,NC_000009.12:95481958:C:T
Gene:: PTCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.95481959C>G, NC_000009.12:g.95481959C>T, NC_000009.11:g.98244241C>G, NC_000009.11:g.98244241C>T, NG_007664.1:g.40007G>C, NG_007664.1:g.40007G>A, NM_000264.5:c.736G>C, NM_000264.5:c.736G>A, NM_000264.4:c.736G>C, NM_000264.4:c.736G>A, NM_000264.3:c.736G>C, NM_000264.3:c.736G>A, NM_001083602.3:c.538G>C, NM_001083602.3:c.538G>A, NM_001083602.2:c.538G>C, NM_001083602.2:c.538G>A, NM_001083602.1:c.538G>C, NM_001083602.1:c.538G>A, NM_001083603.3:c.733G>C, NM_001083603.3:c.733G>A, NM_001083603.2:c.733G>C, NM_001083603.2:c.733G>A, NM_001083603.1:c.733G>C, NM_001083603.1:c.733G>A, NM_001083607.3:c.283G>C, NM_001083607.3:c.283G>A, NM_001083607.2:c.283G>C, NM_001083607.2:c.283G>A, NM_001083607.1:c.283G>C, NM_001083607.1:c.283G>A, NM_001083606.3:c.283G>C, NM_001083606.3:c.283G>A, NM_001083606.2:c.283G>C, NM_001083606.2:c.283G>A, NM_001083606.1:c.283G>C, NM_001083606.1:c.283G>A, NM_001083604.3:c.283G>C, NM_001083604.3:c.283G>A, NM_001083604.2:c.283G>C, NM_001083604.2:c.283G>A, NM_001083604.1:c.283G>C, NM_001083604.1:c.283G>A, NM_001083605.3:c.283G>C, NM_001083605.3:c.283G>A, NM_001083605.2:c.283G>C, NM_001083605.2:c.283G>A, NM_001083605.1:c.283G>C, NM_001083605.1:c.283G>A, NM_001354918.2:c.736G>C, NM_001354918.2:c.736G>A, NM_001354918.1:c.736G>C, NM_001354918.1:c.736G>A, NR_149061.2:n.1641G>C, NR_149061.2:n.1641G>A, NR_149061.1:n.924G>C, NR_149061.1:n.924G>A, NM_001354919.2:c.538G>C, NM_001354919.2:c.538G>A, NM_001354919.1:c.538G>C, NM_001354919.1:c.538G>A, NP_000255.2:p.Ala246Pro, NP_000255.2:p.Ala246Thr, NP_001077071.1:p.Ala180Pro, NP_001077071.1:p.Ala180Thr, NP_001077072.1:p.Ala245Pro, NP_001077072.1:p.Ala245Thr, NP_001077076.1:p.Ala95Pro, NP_001077076.1:p.Ala95Thr, NP_001077075.1:p.Ala95Pro, NP_001077075.1:p.Ala95Thr, NP_001077073.1:p.Ala95Pro, NP_001077073.1:p.Ala95Thr, NP_001077074.1:p.Ala95Pro, NP_001077074.1:p.Ala95Thr, NP_001341847.1:p.Ala246Pro, NP_001341847.1:p.Ala246Thr, NP_001341848.1:p.Ala180Pro, NP_001341848.1:p.Ala180Thr

Select item 142577155113.

rs1425771551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 9:95506498 (GRCh38)
9:98268780 (GRCh37)
Canonical SPDI:: NC_000009.12:95506497:G:A,NC_000009.12:95506497:G:C,NC_000009.12:95506497:G:T
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95506498G>A, NC_000009.12:g.95506498G>C, NC_000009.12:g.95506498G>T, NC_000009.11:g.98268780G>A, NC_000009.11:g.98268780G>C, NC_000009.11:g.98268780G>T, NG_007664.1:g.15468C>T, NG_007664.1:g.15468C>G, NG_007664.1:g.15468C>A, NM_000264.5:c.303C>T, NM_000264.5:c.303C>G, NM_000264.5:c.303C>A, NM_000264.4:c.303C>T, NM_000264.4:c.303C>G, NM_000264.4:c.303C>A, NM_000264.3:c.303C>T, NM_000264.3:c.303C>G, NM_000264.3:c.303C>A, NM_001083602.3:c.105C>T, NM_001083602.3:c.105C>G, NM_001083602.3:c.105C>A, NM_001083602.2:c.105C>T, NM_001083602.2:c.105C>G, NM_001083602.2:c.105C>A, NM_001083602.1:c.105C>T, NM_001083602.1:c.105C>G, NM_001083602.1:c.105C>A, NM_001083603.3:c.300C>T, NM_001083603.3:c.300C>G, NM_001083603.3:c.300C>A, NM_001083603.2:c.300C>T, NM_001083603.2:c.300C>G, NM_001083603.2:c.300C>A, NM_001083603.1:c.300C>T, NM_001083603.1:c.300C>G, NM_001083603.1:c.300C>A, NM_001083607.3:c.-151C>T, NM_001083607.3:c.-151C>G, NM_001083607.3:c.-151C>A, NM_001083607.2:c.-151C>T, NM_001083607.2:c.-151C>G, NM_001083607.2:c.-151C>A, NM_001083607.1:c.-151C>T, NM_001083607.1:c.-151C>G, NM_001083607.1:c.-151C>A, NM_001083606.3:c.-151C>T, NM_001083606.3:c.-151C>G, NM_001083606.3:c.-151C>A, NM_001083606.2:c.-151C>T, NM_001083606.2:c.-151C>G, NM_001083606.2:c.-151C>A, NM_001083606.1:c.-151C>T, NM_001083606.1:c.-151C>G, NM_001083606.1:c.-151C>A, NM_001083604.3:c.-151C>T, NM_001083604.3:c.-151C>G, NM_001083604.3:c.-151C>A, NM_001083604.2:c.-151C>T, NM_001083604.2:c.-151C>G, NM_001083604.2:c.-151C>A, NM_001083604.1:c.-151C>T, NM_001083604.1:c.-151C>G, NM_001083604.1:c.-151C>A, NM_001083605.3:c.-151C>T, NM_001083605.3:c.-151C>G, NM_001083605.3:c.-151C>A, NM_001083605.2:c.-151C>T, NM_001083605.2:c.-151C>G, NM_001083605.2:c.-151C>A, NM_001083605.1:c.-151C>T, NM_001083605.1:c.-151C>G, NM_001083605.1:c.-151C>A, NM_001354918.2:c.303C>T, NM_001354918.2:c.303C>G, NM_001354918.2:c.303C>A, NM_001354918.1:c.303C>T, NM_001354918.1:c.303C>G, NM_001354918.1:c.303C>A, NR_149061.2:n.1208C>T, NR_149061.2:n.1208C>G, NR_149061.2:n.1208C>A, NR_149061.1:n.491C>T, NR_149061.1:n.491C>G, NR_149061.1:n.491C>A, NM_001354919.2:c.105C>T, NM_001354919.2:c.105C>G, NM_001354919.2:c.105C>A, NM_001354919.1:c.105C>T, NM_001354919.1:c.105C>G, NM_001354919.1:c.105C>A, NP_000255.2:p.Phe101Leu, NP_000255.2:p.Phe101Leu, NP_001077071.1:p.Phe35Leu, NP_001077071.1:p.Phe35Leu, NP_001077072.1:p.Phe100Leu, NP_001077072.1:p.Phe100Leu, NP_001341847.1:p.Phe101Leu, NP_001341847.1:p.Phe101Leu, NP_001341848.1:p.Phe35Leu, NP_001341848.1:p.Phe35Leu

Select item 142554462614.

rs1425544626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 9:95482038 (GRCh38)
9:98244320 (GRCh37)
Canonical SPDI:: NC_000009.12:95482037:T:A,NC_000009.12:95482037:T:C,NC_000009.12:95482037:T:G
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.95482038T>A, NC_000009.12:g.95482038T>C, NC_000009.12:g.95482038T>G, NC_000009.11:g.98244320T>A, NC_000009.11:g.98244320T>C, NC_000009.11:g.98244320T>G, NG_007664.1:g.39928A>T, NG_007664.1:g.39928A>G, NG_007664.1:g.39928A>C, NM_000264.5:c.657A>T, NM_000264.5:c.657A>G, NM_000264.5:c.657A>C, NM_000264.4:c.657A>T, NM_000264.4:c.657A>G, NM_000264.4:c.657A>C, NM_000264.3:c.657A>T, NM_000264.3:c.657A>G, NM_000264.3:c.657A>C, NM_001083602.3:c.459A>T, NM_001083602.3:c.459A>G, NM_001083602.3:c.459A>C, NM_001083602.2:c.459A>T, NM_001083602.2:c.459A>G, NM_001083602.2:c.459A>C, NM_001083602.1:c.459A>T, NM_001083602.1:c.459A>G, NM_001083602.1:c.459A>C, NM_001083603.3:c.654A>T, NM_001083603.3:c.654A>G, NM_001083603.3:c.654A>C, NM_001083603.2:c.654A>T, NM_001083603.2:c.654A>G, NM_001083603.2:c.654A>C, NM_001083603.1:c.654A>T, NM_001083603.1:c.654A>G, NM_001083603.1:c.654A>C, NM_001083607.3:c.204A>T, NM_001083607.3:c.204A>G, NM_001083607.3:c.204A>C, NM_001083607.2:c.204A>T, NM_001083607.2:c.204A>G, NM_001083607.2:c.204A>C, NM_001083607.1:c.204A>T, NM_001083607.1:c.204A>G, NM_001083607.1:c.204A>C, NM_001083606.3:c.204A>T, NM_001083606.3:c.204A>G, NM_001083606.3:c.204A>C, NM_001083606.2:c.204A>T, NM_001083606.2:c.204A>G, NM_001083606.2:c.204A>C, NM_001083606.1:c.204A>T, NM_001083606.1:c.204A>G, NM_001083606.1:c.204A>C, NM_001083604.3:c.204A>T, NM_001083604.3:c.204A>G, NM_001083604.3:c.204A>C, NM_001083604.2:c.204A>T, NM_001083604.2:c.204A>G, NM_001083604.2:c.204A>C, NM_001083604.1:c.204A>T, NM_001083604.1:c.204A>G, NM_001083604.1:c.204A>C, NM_001083605.3:c.204A>T, NM_001083605.3:c.204A>G, NM_001083605.3:c.204A>C, NM_001083605.2:c.204A>T, NM_001083605.2:c.204A>G, NM_001083605.2:c.204A>C, NM_001083605.1:c.204A>T, NM_001083605.1:c.204A>G, NM_001083605.1:c.204A>C, NM_001354918.2:c.657A>T, NM_001354918.2:c.657A>G, NM_001354918.2:c.657A>C, NM_001354918.1:c.657A>T, NM_001354918.1:c.657A>G, NM_001354918.1:c.657A>C, NR_149061.2:n.1562A>T, NR_149061.2:n.1562A>G, NR_149061.2:n.1562A>C, NR_149061.1:n.845A>T, NR_149061.1:n.845A>G, NR_149061.1:n.845A>C, NM_001354919.2:c.459A>T, NM_001354919.2:c.459A>G, NM_001354919.2:c.459A>C, NM_001354919.1:c.459A>T, NM_001354919.1:c.459A>G, NM_001354919.1:c.459A>C, NP_000255.2:p.Ile219Met, NP_001077071.1:p.Ile153Met, NP_001077072.1:p.Ile218Met, NP_001077076.1:p.Ile68Met, NP_001077075.1:p.Ile68Met, NP_001077073.1:p.Ile68Met, NP_001077074.1:p.Ile68Met, NP_001341847.1:p.Ile219Met, NP_001341848.1:p.Ile153Met

Select item 142101864215.

rs1421018642 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:95506439 (GRCh38)
9:98268721 (GRCh37)
Canonical SPDI:: NC_000009.12:95506438:A:G,NC_000009.12:95506438:A:T
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.95506439A>G, NC_000009.12:g.95506439A>T, NC_000009.11:g.98268721A>G, NC_000009.11:g.98268721A>T, NG_007664.1:g.15527T>C, NG_007664.1:g.15527T>A, NM_000264.5:c.362T>C, NM_000264.5:c.362T>A, NM_000264.4:c.362T>C, NM_000264.4:c.362T>A, NM_000264.3:c.362T>C, NM_000264.3:c.362T>A, NM_001083602.3:c.164T>C, NM_001083602.3:c.164T>A, NM_001083602.2:c.164T>C, NM_001083602.2:c.164T>A, NM_001083602.1:c.164T>C, NM_001083602.1:c.164T>A, NM_001083603.3:c.359T>C, NM_001083603.3:c.359T>A, NM_001083603.2:c.359T>C, NM_001083603.2:c.359T>A, NM_001083603.1:c.359T>C, NM_001083603.1:c.359T>A, NM_001083607.3:c.-92T>C, NM_001083607.3:c.-92T>A, NM_001083607.2:c.-92T>C, NM_001083607.2:c.-92T>A, NM_001083607.1:c.-92T>C, NM_001083607.1:c.-92T>A, NM_001083606.3:c.-92T>C, NM_001083606.3:c.-92T>A, NM_001083606.2:c.-92T>C, NM_001083606.2:c.-92T>A, NM_001083606.1:c.-92T>C, NM_001083606.1:c.-92T>A, NM_001083604.3:c.-92T>C, NM_001083604.3:c.-92T>A, NM_001083604.2:c.-92T>C, NM_001083604.2:c.-92T>A, NM_001083604.1:c.-92T>C, NM_001083604.1:c.-92T>A, NM_001083605.3:c.-92T>C, NM_001083605.3:c.-92T>A, NM_001083605.2:c.-92T>C, NM_001083605.2:c.-92T>A, NM_001083605.1:c.-92T>C, NM_001083605.1:c.-92T>A, NM_001354918.2:c.362T>C, NM_001354918.2:c.362T>A, NM_001354918.1:c.362T>C, NM_001354918.1:c.362T>A, NR_149061.2:n.1267T>C, NR_149061.2:n.1267T>A, NR_149061.1:n.550T>C, NR_149061.1:n.550T>A, NM_001354919.2:c.164T>C, NM_001354919.2:c.164T>A, NM_001354919.1:c.164T>C, NM_001354919.1:c.164T>A, NP_000255.2:p.Leu121Pro, NP_000255.2:p.Leu121His, NP_001077071.1:p.Leu55Pro, NP_001077071.1:p.Leu55His, NP_001077072.1:p.Leu120Pro, NP_001077072.1:p.Leu120His, NP_001341847.1:p.Leu121Pro, NP_001341847.1:p.Leu121His, NP_001341848.1:p.Leu55Pro, NP_001341848.1:p.Leu55His

Select item 139628254516.

rs1396282545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:95485831 (GRCh38)
9:98248113 (GRCh37)
Canonical SPDI:: NC_000009.12:95485830:C:A,NC_000009.12:95485830:C:G,NC_000009.12:95485830:C:T
Gene:: PTCH1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95485831C>A, NC_000009.12:g.95485831C>G, NC_000009.12:g.95485831C>T, NC_000009.11:g.98248113C>A, NC_000009.11:g.98248113C>G, NC_000009.11:g.98248113C>T, NG_007664.1:g.36135G>T, NG_007664.1:g.36135G>C, NG_007664.1:g.36135G>A, NM_000264.5:c.438G>T, NM_000264.5:c.438G>C, NM_000264.5:c.438G>A, NM_000264.4:c.438G>T, NM_000264.4:c.438G>C, NM_000264.4:c.438G>A, NM_000264.3:c.438G>T, NM_000264.3:c.438G>C, NM_000264.3:c.438G>A, NM_001083602.3:c.240G>T, NM_001083602.3:c.240G>C, NM_001083602.3:c.240G>A, NM_001083602.2:c.240G>T, NM_001083602.2:c.240G>C, NM_001083602.2:c.240G>A, NM_001083602.1:c.240G>T, NM_001083602.1:c.240G>C, NM_001083602.1:c.240G>A, NM_001083603.3:c.435G>T, NM_001083603.3:c.435G>C, NM_001083603.3:c.435G>A, NM_001083603.2:c.435G>T, NM_001083603.2:c.435G>C, NM_001083603.2:c.435G>A, NM_001083603.1:c.435G>T, NM_001083603.1:c.435G>C, NM_001083603.1:c.435G>A, NM_001083607.3:c.-16G>T, NM_001083607.3:c.-16G>C, NM_001083607.3:c.-16G>A, NM_001083607.2:c.-16G>T, NM_001083607.2:c.-16G>C, NM_001083607.2:c.-16G>A, NM_001083607.1:c.-16G>T, NM_001083607.1:c.-16G>C, NM_001083607.1:c.-16G>A, NM_001083606.3:c.-16G>T, NM_001083606.3:c.-16G>C, NM_001083606.3:c.-16G>A, NM_001083606.2:c.-16G>T, NM_001083606.2:c.-16G>C, NM_001083606.2:c.-16G>A, NM_001083606.1:c.-16G>T, NM_001083606.1:c.-16G>C, NM_001083606.1:c.-16G>A, NM_001083604.3:c.-16G>T, NM_001083604.3:c.-16G>C, NM_001083604.3:c.-16G>A, NM_001083604.2:c.-16G>T, NM_001083604.2:c.-16G>C, NM_001083604.2:c.-16G>A, NM_001083604.1:c.-16G>T, NM_001083604.1:c.-16G>C, NM_001083604.1:c.-16G>A, NM_001083605.3:c.-16G>T, NM_001083605.3:c.-16G>C, NM_001083605.3:c.-16G>A, NM_001083605.2:c.-16G>T, NM_001083605.2:c.-16G>C, NM_001083605.2:c.-16G>A, NM_001083605.1:c.-16G>T, NM_001083605.1:c.-16G>C, NM_001083605.1:c.-16G>A, NM_001354918.2:c.438G>T, NM_001354918.2:c.438G>C, NM_001354918.2:c.438G>A, NM_001354918.1:c.438G>T, NM_001354918.1:c.438G>C, NM_001354918.1:c.438G>A, NR_149061.2:n.1343G>T, NR_149061.2:n.1343G>C, NR_149061.2:n.1343G>A, NR_149061.1:n.626G>T, NR_149061.1:n.626G>C, NR_149061.1:n.626G>A, NM_001354919.2:c.240G>T, NM_001354919.2:c.240G>C, NM_001354919.2:c.240G>A, NM_001354919.1:c.240G>T, NM_001354919.1:c.240G>C, NM_001354919.1:c.240G>A, NP_000255.2:p.Lys146Asn, NP_000255.2:p.Lys146Asn, NP_001077071.1:p.Lys80Asn, NP_001077071.1:p.Lys80Asn, NP_001077072.1:p.Lys145Asn, NP_001077072.1:p.Lys145Asn, NP_001341847.1:p.Lys146Asn, NP_001341847.1:p.Lys146Asn, NP_001341848.1:p.Lys80Asn, NP_001341848.1:p.Lys80Asn

Select item 138396365217.

rs1383963652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:95506585 (GRCh38)
9:98268867 (GRCh37)
Canonical SPDI:: NC_000009.12:95506584:G:A,NC_000009.12:95506584:G:C
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95506585G>A, NC_000009.12:g.95506585G>C, NC_000009.11:g.98268867G>A, NC_000009.11:g.98268867G>C, NG_007664.1:g.15381C>T, NG_007664.1:g.15381C>G, NM_000264.5:c.216C>T, NM_000264.5:c.216C>G, NM_000264.4:c.216C>T, NM_000264.4:c.216C>G, NM_000264.3:c.216C>T, NM_000264.3:c.216C>G, NM_001083602.3:c.18C>T, NM_001083602.3:c.18C>G, NM_001083602.2:c.18C>T, NM_001083602.2:c.18C>G, NM_001083602.1:c.18C>T, NM_001083602.1:c.18C>G, NM_001083603.3:c.213C>T, NM_001083603.3:c.213C>G, NM_001083603.2:c.213C>T, NM_001083603.2:c.213C>G, NM_001083603.1:c.213C>T, NM_001083603.1:c.213C>G, NM_001083607.3:c.-238C>T, NM_001083607.3:c.-238C>G, NM_001083607.2:c.-238C>T, NM_001083607.2:c.-238C>G, NM_001083607.1:c.-238C>T, NM_001083607.1:c.-238C>G, NM_001083606.3:c.-238C>T, NM_001083606.3:c.-238C>G, NM_001083606.2:c.-238C>T, NM_001083606.2:c.-238C>G, NM_001083606.1:c.-238C>T, NM_001083606.1:c.-238C>G, NM_001083604.3:c.-238C>T, NM_001083604.3:c.-238C>G, NM_001083604.2:c.-238C>T, NM_001083604.2:c.-238C>G, NM_001083604.1:c.-238C>T, NM_001083604.1:c.-238C>G, NM_001083605.3:c.-238C>T, NM_001083605.3:c.-238C>G, NM_001083605.2:c.-238C>T, NM_001083605.2:c.-238C>G, NM_001083605.1:c.-238C>T, NM_001083605.1:c.-238C>G, NM_001354918.2:c.216C>T, NM_001354918.2:c.216C>G, NM_001354918.1:c.216C>T, NM_001354918.1:c.216C>G, NR_149061.2:n.1121C>T, NR_149061.2:n.1121C>G, NR_149061.1:n.404C>T, NR_149061.1:n.404C>G, NM_001354919.2:c.18C>T, NM_001354919.2:c.18C>G, NM_001354919.1:c.18C>T, NM_001354919.1:c.18C>G

Select item 137052721418.

rs1370527214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 9:95506442 (GRCh38)
9:98268724 (GRCh37)
Canonical SPDI:: NC_000009.12:95506441:T:A,NC_000009.12:95506441:T:C,NC_000009.12:95506441:T:G
Gene:: PTCH1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.95506442T>A, NC_000009.12:g.95506442T>C, NC_000009.12:g.95506442T>G, NC_000009.11:g.98268724T>A, NC_000009.11:g.98268724T>C, NC_000009.11:g.98268724T>G, NG_007664.1:g.15524A>T, NG_007664.1:g.15524A>G, NG_007664.1:g.15524A>C, NM_000264.5:c.359A>T, NM_000264.5:c.359A>G, NM_000264.5:c.359A>C, NM_000264.4:c.359A>T, NM_000264.4:c.359A>G, NM_000264.4:c.359A>C, NM_000264.3:c.359A>T, NM_000264.3:c.359A>G, NM_000264.3:c.359A>C, NM_001083602.3:c.161A>T, NM_001083602.3:c.161A>G, NM_001083602.3:c.161A>C, NM_001083602.2:c.161A>T, NM_001083602.2:c.161A>G, NM_001083602.2:c.161A>C, NM_001083602.1:c.161A>T, NM_001083602.1:c.161A>G, NM_001083602.1:c.161A>C, NM_001083603.3:c.356A>T, NM_001083603.3:c.356A>G, NM_001083603.3:c.356A>C, NM_001083603.2:c.356A>T, NM_001083603.2:c.356A>G, NM_001083603.2:c.356A>C, NM_001083603.1:c.356A>T, NM_001083603.1:c.356A>G, NM_001083603.1:c.356A>C, NM_001083607.3:c.-95A>T, NM_001083607.3:c.-95A>G, NM_001083607.3:c.-95A>C, NM_001083607.2:c.-95A>T, NM_001083607.2:c.-95A>G, NM_001083607.2:c.-95A>C, NM_001083607.1:c.-95A>T, NM_001083607.1:c.-95A>G, NM_001083607.1:c.-95A>C, NM_001083606.3:c.-95A>T, NM_001083606.3:c.-95A>G, NM_001083606.3:c.-95A>C, NM_001083606.2:c.-95A>T, NM_001083606.2:c.-95A>G, NM_001083606.2:c.-95A>C, NM_001083606.1:c.-95A>T, NM_001083606.1:c.-95A>G, NM_001083606.1:c.-95A>C, NM_001083604.3:c.-95A>T, NM_001083604.3:c.-95A>G, NM_001083604.3:c.-95A>C, NM_001083604.2:c.-95A>T, NM_001083604.2:c.-95A>G, NM_001083604.2:c.-95A>C, NM_001083604.1:c.-95A>T, NM_001083604.1:c.-95A>G, NM_001083604.1:c.-95A>C, NM_001083605.3:c.-95A>T, NM_001083605.3:c.-95A>G, NM_001083605.3:c.-95A>C, NM_001083605.2:c.-95A>T, NM_001083605.2:c.-95A>G, NM_001083605.2:c.-95A>C, NM_001083605.1:c.-95A>T, NM_001083605.1:c.-95A>G, NM_001083605.1:c.-95A>C, NM_001354918.2:c.359A>T, NM_001354918.2:c.359A>G, NM_001354918.2:c.359A>C, NM_001354918.1:c.359A>T, NM_001354918.1:c.359A>G, NM_001354918.1:c.359A>C, NR_149061.2:n.1264A>T, NR_149061.2:n.1264A>G, NR_149061.2:n.1264A>C, NR_149061.1:n.547A>T, NR_149061.1:n.547A>G, NR_149061.1:n.547A>C, NM_001354919.2:c.161A>T, NM_001354919.2:c.161A>G, NM_001354919.2:c.161A>C, NM_001354919.1:c.161A>T, NM_001354919.1:c.161A>G, NM_001354919.1:c.161A>C, NP_000255.2:p.Asn120Ile, NP_000255.2:p.Asn120Ser, NP_000255.2:p.Asn120Thr, NP_001077071.1:p.Asn54Ile, NP_001077071.1:p.Asn54Ser, NP_001077071.1:p.Asn54Thr, NP_001077072.1:p.Asn119Ile, NP_001077072.1:p.Asn119Ser, NP_001077072.1:p.Asn119Thr, NP_001341847.1:p.Asn120Ile, NP_001341847.1:p.Asn120Ser, NP_001341847.1:p.Asn120Thr, NP_001341848.1:p.Asn54Ile, NP_001341848.1:p.Asn54Ser, NP_001341848.1:p.Asn54Thr

Select item 136092430419.

rs1360924304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:95485810 (GRCh38)
9:98248092 (GRCh37)
Canonical SPDI:: NC_000009.12:95485809:A:G,NC_000009.12:95485809:A:T
Gene:: PTCH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95485810A>G, NC_000009.12:g.95485810A>T, NC_000009.11:g.98248092A>G, NC_000009.11:g.98248092A>T, NG_007664.1:g.36156T>C, NG_007664.1:g.36156T>A, NM_000264.5:c.459T>C, NM_000264.5:c.459T>A, NM_000264.4:c.459T>C, NM_000264.4:c.459T>A, NM_000264.3:c.459T>C, NM_000264.3:c.459T>A, NM_001083602.3:c.261T>C, NM_001083602.3:c.261T>A, NM_001083602.2:c.261T>C, NM_001083602.2:c.261T>A, NM_001083602.1:c.261T>C, NM_001083602.1:c.261T>A, NM_001083603.3:c.456T>C, NM_001083603.3:c.456T>A, NM_001083603.2:c.456T>C, NM_001083603.2:c.456T>A, NM_001083603.1:c.456T>C, NM_001083603.1:c.456T>A, NM_001083607.3:c.6T>C, NM_001083607.3:c.6T>A, NM_001083607.2:c.6T>C, NM_001083607.2:c.6T>A, NM_001083607.1:c.6T>C, NM_001083607.1:c.6T>A, NM_001083606.3:c.6T>C, NM_001083606.3:c.6T>A, NM_001083606.2:c.6T>C, NM_001083606.2:c.6T>A, NM_001083606.1:c.6T>C, NM_001083606.1:c.6T>A, NM_001083604.3:c.6T>C, NM_001083604.3:c.6T>A, NM_001083604.2:c.6T>C, NM_001083604.2:c.6T>A, NM_001083604.1:c.6T>C, NM_001083604.1:c.6T>A, NM_001083605.3:c.6T>C, NM_001083605.3:c.6T>A, NM_001083605.2:c.6T>C, NM_001083605.2:c.6T>A, NM_001083605.1:c.6T>C, NM_001083605.1:c.6T>A, NM_001354918.2:c.459T>C, NM_001354918.2:c.459T>A, NM_001354918.1:c.459T>C, NM_001354918.1:c.459T>A, NR_149061.2:n.1364T>C, NR_149061.2:n.1364T>A, NR_149061.1:n.647T>C, NR_149061.1:n.647T>A, NM_001354919.2:c.261T>C, NM_001354919.2:c.261T>A, NM_001354919.1:c.261T>C, NM_001354919.1:c.261T>A, NP_000255.2:p.Phe153Leu, NP_001077071.1:p.Phe87Leu, NP_001077072.1:p.Phe152Leu, NP_001077076.1:p.Phe2Leu, NP_001077075.1:p.Phe2Leu, NP_001077073.1:p.Phe2Leu, NP_001077074.1:p.Phe2Leu, NP_001341847.1:p.Phe153Leu, NP_001341848.1:p.Phe87Leu

Select item 136027903020.

rs1360279030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:95506526 (GRCh38)
9:98268808 (GRCh37)
Canonical SPDI:: NC_000009.12:95506525:C:A,NC_000009.12:95506525:C:G,NC_000009.12:95506525:C:T
Gene:: PTCH1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.95506526C>A, NC_000009.12:g.95506526C>G, NC_000009.12:g.95506526C>T, NC_000009.11:g.98268808C>A, NC_000009.11:g.98268808C>G, NC_000009.11:g.98268808C>T, NG_007664.1:g.15440G>T, NG_007664.1:g.15440G>C, NG_007664.1:g.15440G>A, NM_000264.5:c.275G>T, NM_000264.5:c.275G>C, NM_000264.5:c.275G>A, NM_000264.4:c.275G>T, NM_000264.4:c.275G>C, NM_000264.4:c.275G>A, NM_000264.3:c.275G>T, NM_000264.3:c.275G>C, NM_000264.3:c.275G>A, NM_001083602.3:c.77G>T, NM_001083602.3:c.77G>C, NM_001083602.3:c.77G>A, NM_001083602.2:c.77G>T, NM_001083602.2:c.77G>C, NM_001083602.2:c.77G>A, NM_001083602.1:c.77G>T, NM_001083602.1:c.77G>C, NM_001083602.1:c.77G>A, NM_001083603.3:c.272G>T, NM_001083603.3:c.272G>C, NM_001083603.3:c.272G>A, NM_001083603.2:c.272G>T, NM_001083603.2:c.272G>C, NM_001083603.2:c.272G>A, NM_001083603.1:c.272G>T, NM_001083603.1:c.272G>C, NM_001083603.1:c.272G>A, NM_001083607.3:c.-179G>T, NM_001083607.3:c.-179G>C, NM_001083607.3:c.-179G>A, NM_001083607.2:c.-179G>T, NM_001083607.2:c.-179G>C, NM_001083607.2:c.-179G>A, NM_001083607.1:c.-179G>T, NM_001083607.1:c.-179G>C, NM_001083607.1:c.-179G>A, NM_001083606.3:c.-179G>T, NM_001083606.3:c.-179G>C, NM_001083606.3:c.-179G>A, NM_001083606.2:c.-179G>T, NM_001083606.2:c.-179G>C, NM_001083606.2:c.-179G>A, NM_001083606.1:c.-179G>T, NM_001083606.1:c.-179G>C, NM_001083606.1:c.-179G>A, NM_001083604.3:c.-179G>T, NM_001083604.3:c.-179G>C, NM_001083604.3:c.-179G>A, NM_001083604.2:c.-179G>T, NM_001083604.2:c.-179G>C, NM_001083604.2:c.-179G>A, NM_001083604.1:c.-179G>T, NM_001083604.1:c.-179G>C, NM_001083604.1:c.-179G>A, NM_001083605.3:c.-179G>T, NM_001083605.3:c.-179G>C, NM_001083605.3:c.-179G>A, NM_001083605.2:c.-179G>T, NM_001083605.2:c.-179G>C, NM_001083605.2:c.-179G>A, NM_001083605.1:c.-179G>T, NM_001083605.1:c.-179G>C, NM_001083605.1:c.-179G>A, NM_001354918.2:c.275G>T, NM_001354918.2:c.275G>C, NM_001354918.2:c.275G>A, NM_001354918.1:c.275G>T, NM_001354918.1:c.275G>C, NM_001354918.1:c.275G>A, NR_149061.2:n.1180G>T, NR_149061.2:n.1180G>C, NR_149061.2:n.1180G>A, NR_149061.1:n.463G>T, NR_149061.1:n.463G>C, NR_149061.1:n.463G>A, NM_001354919.2:c.77G>T, NM_001354919.2:c.77G>C, NM_001354919.2:c.77G>A, NM_001354919.1:c.77G>T, NM_001354919.1:c.77G>C, NM_001354919.1:c.77G>A, NP_000255.2:p.Cys92Phe, NP_000255.2:p.Cys92Ser, NP_000255.2:p.Cys92Tyr, NP_001077071.1:p.Cys26Phe, NP_001077071.1:p.Cys26Ser, NP_001077071.1:p.Cys26Tyr, NP_001077072.1:p.Cys91Phe, NP_001077072.1:p.Cys91Ser, NP_001077072.1:p.Cys91Tyr, NP_001341847.1:p.Cys92Phe, NP_001341847.1:p.Cys92Ser, NP_001341847.1:p.Cys92Tyr, NP_001341848.1:p.Cys26Phe, NP_001341848.1:p.Cys26Ser, NP_001341848.1:p.Cys26Tyr

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