Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.114404006_114408890delCA916084278WHRNc.1627-868_2312del
c.600-868_1285del
n.1508-868_2193del
c.478-868_1163del
c.574-868_1259del
c.1627-868_2309del
c.964-868_1649del
c.1660-868_2345del
c.1660-868_2342del
c.1534-868_2219del
c.1417-868_2102del
c.337-868_1022del
n.2564-868_3249del
n.2462-868_3147del
n.1875-868_2560del
n.1773-868_2458del
 ClinVar
9g.114406173_114406332delCA2785656177WHRNc.580+29_580+188del (n.580+29_580+188del)
c.2236+29_2236+188del (n.2236+29_2236+188del)
c.1209+29_1209+188del
n.2117+29_2117+188del
c.1087+29_1087+188del (n.1087+29_1087+188del)
c.1183+29_1183+188del (n.1183+29_1183+188del)
c.1573+29_1573+188del (n.1573+29_1573+188del)
c.2269+29_2269+188del (n.2269+29_2269+188del)
c.2143+29_2143+188del (n.2143+29_2143+188del)
c.2026+29_2026+188del (n.2026+29_2026+188del)
c.946+29_946+188del (n.946+29_946+188del)
n.3173+29_3173+188del
n.3071+29_3071+188del
n.2484+29_2484+188del
n.2382+29_2382+188del
9g.114406242_114406341delCA2785656184WHRNc.580+20_580+119del (n.580+20_580+119del)
c.2236+20_2236+119del (n.2236+20_2236+119del)
c.1209+20_1209+119del
n.2117+20_2117+119del
c.1087+20_1087+119del (n.1087+20_1087+119del)
c.1183+20_1183+119del (n.1183+20_1183+119del)
c.1573+20_1573+119del (n.1573+20_1573+119del)
c.2269+20_2269+119del (n.2269+20_2269+119del)
c.2143+20_2143+119del (n.2143+20_2143+119del)
c.2026+20_2026+119del (n.2026+20_2026+119del)
c.946+20_946+119del (n.946+20_946+119del)
n.3173+20_3173+119del
n.3071+20_3071+119del
n.2484+20_2484+119del
n.2382+20_2382+119del
9g.114406324G>TCA2785656203WHRNc.580+31C>A (n.580+31C>A)
c.2236+31C>A (n.2236+31C>A)
c.1209+31C>A
n.2117+31C>A
c.1087+31C>A (n.1087+31C>A)
c.1183+31C>A (n.1183+31C>A)
c.1573+31C>A (n.1573+31C>A)
c.2269+31C>A (n.2269+31C>A)
c.2143+31C>A (n.2143+31C>A)
c.2026+31C>A (n.2026+31C>A)
c.946+31C>A (n.946+31C>A)
n.3173+31C>A
n.3071+31C>A
n.2484+31C>A
n.2382+31C>A
9g.114406325G>TCA2579437947WHRNc.580+30C>A (n.580+30C>A)
c.2236+30C>A (n.2236+30C>A)
c.1209+30C>A
n.2117+30C>A
c.1087+30C>A (n.1087+30C>A)
c.1183+30C>A (n.1183+30C>A)
c.1573+30C>A (n.1573+30C>A)
c.2269+30C>A (n.2269+30C>A)
c.2143+30C>A (n.2143+30C>A)
c.2026+30C>A (n.2026+30C>A)
c.946+30C>A (n.946+30C>A)
n.3173+30C>A
n.3071+30C>A
n.2484+30C>A
n.2382+30C>A
9g.114406326A>TCA2785656204WHRNc.580+29T>A (n.580+29T>A)
c.2236+29T>A (n.2236+29T>A)
c.1209+29T>A
n.2117+29T>A
c.1087+29T>A (n.1087+29T>A)
c.1183+29T>A (n.1183+29T>A)
c.1573+29T>A (n.1573+29T>A)
c.2269+29T>A (n.2269+29T>A)
c.2143+29T>A (n.2143+29T>A)
c.2026+29T>A (n.2026+29T>A)
c.946+29T>A (n.946+29T>A)
n.3173+29T>A
n.3071+29T>A
n.2484+29T>A
n.2382+29T>A
9g.114406327C=CA1873827034WHRNc.580+28G= (n.580+28G=)
c.2236+28G= (n.2236+28G=)
c.1209+28G=
n.2117+28G=
c.1087+28G= (n.1087+28G=)
c.1183+28G= (n.1183+28G=)
c.1573+28G= (n.1573+28G=)
c.2269+28G= (n.2269+28G=)
c.2143+28G= (n.2143+28G=)
c.2026+28G= (n.2026+28G=)
c.946+28G= (n.946+28G=)
n.3173+28G=
n.3071+28G=
n.2484+28G=
n.2382+28G=
9g.114406327C>GCA1873827035WHRNc.580+28G>C (n.580+28G>C)
c.2236+28G>C (n.2236+28G>C)
c.1209+28G>C
n.2117+28G>C
c.1087+28G>C (n.1087+28G>C)
c.1183+28G>C (n.1183+28G>C)
c.1573+28G>C (n.1573+28G>C)
c.2269+28G>C (n.2269+28G>C)
c.2143+28G>C (n.2143+28G>C)
c.2026+28G>C (n.2026+28G>C)
c.946+28G>C (n.946+28G>C)
n.3173+28G>C
n.3071+28G>C
n.2484+28G>C
n.2382+28G>C
 dbSNP
9g.114406328C>ACA590141499WHRNc.580+27G>T (n.580+27G>T)
c.2236+27G>T (n.2236+27G>T)
c.1209+27G>T
n.2117+27G>T
c.1087+27G>T (n.1087+27G>T)
c.1183+27G>T (n.1183+27G>T)
c.1573+27G>T (n.1573+27G>T)
c.2269+27G>T (n.2269+27G>T)
c.2143+27G>T (n.2143+27G>T)
c.2026+27G>T (n.2026+27G>T)
c.946+27G>T (n.946+27G>T)
n.3173+27G>T
n.3071+27G>T
n.2484+27G>T
n.2382+27G>T
 dbSNP gnomAD v2
9g.114406328C=CA1873827036WHRNc.580+27G= (n.580+27G=)
c.2236+27G= (n.2236+27G=)
c.1209+27G=
n.2117+27G=
c.1087+27G= (n.1087+27G=)
c.1183+27G= (n.1183+27G=)
c.1573+27G= (n.1573+27G=)
c.2269+27G= (n.2269+27G=)
c.2143+27G= (n.2143+27G=)
c.2026+27G= (n.2026+27G=)
c.946+27G= (n.946+27G=)
n.3173+27G=
n.3071+27G=
n.2484+27G=
n.2382+27G=
9g.114406328C>GCA590141500WHRNc.580+27G>C (n.580+27G>C)
c.2236+27G>C (n.2236+27G>C)
c.1209+27G>C
n.2117+27G>C
c.1087+27G>C (n.1087+27G>C)
c.1183+27G>C (n.1183+27G>C)
c.1573+27G>C (n.1573+27G>C)
c.2269+27G>C (n.2269+27G>C)
c.2143+27G>C (n.2143+27G>C)
c.2026+27G>C (n.2026+27G>C)
c.946+27G>C (n.946+27G>C)
n.3173+27G>C
n.3071+27G>C
n.2484+27G>C
n.2382+27G>C
 dbSNP gnomAD v2 gnomAD v4
9g.114406329A=CA1873827037WHRNc.580+26T= (n.580+26T=)
c.2236+26T= (n.2236+26T=)
c.1209+26T=
n.2117+26T=
c.1087+26T= (n.1087+26T=)
c.1183+26T= (n.1183+26T=)
c.1573+26T= (n.1573+26T=)
c.2269+26T= (n.2269+26T=)
c.2143+26T= (n.2143+26T=)
c.2026+26T= (n.2026+26T=)
c.946+26T= (n.946+26T=)
n.3173+26T=
n.3071+26T=
n.2484+26T=
n.2382+26T=
9g.114406329A>CCA1873827038WHRNc.580+26T>G (n.580+26T>G)
c.2236+26T>G (n.2236+26T>G)
c.1209+26T>G
n.2117+26T>G
c.1087+26T>G (n.1087+26T>G)
c.1183+26T>G (n.1183+26T>G)
c.1573+26T>G (n.1573+26T>G)
c.2269+26T>G (n.2269+26T>G)
c.2143+26T>G (n.2143+26T>G)
c.2026+26T>G (n.2026+26T>G)
c.946+26T>G (n.946+26T>G)
n.3173+26T>G
n.3071+26T>G
n.2484+26T>G
n.2382+26T>G
 dbSNP
9g.114406330C>ACA858987895WHRNc.580+25G>T (n.580+25G>T)
c.2236+25G>T (n.2236+25G>T)
c.1209+25G>T
n.2117+25G>T
c.1087+25G>T (n.1087+25G>T)
c.1183+25G>T (n.1183+25G>T)
c.1573+25G>T (n.1573+25G>T)
c.2269+25G>T (n.2269+25G>T)
c.2143+25G>T (n.2143+25G>T)
c.2026+25G>T (n.2026+25G>T)
c.946+25G>T (n.946+25G>T)
n.3173+25G>T
n.3071+25G>T
n.2484+25G>T
n.2382+25G>T
 dbSNP gnomAD v3 gnomAD v4
9g.114406330C=CA1873827039WHRNc.580+25G= (n.580+25G=)
c.2236+25G= (n.2236+25G=)
c.1209+25G=
n.2117+25G=
c.1087+25G= (n.1087+25G=)
c.1183+25G= (n.1183+25G=)
c.1573+25G= (n.1573+25G=)
c.2269+25G= (n.2269+25G=)
c.2143+25G= (n.2143+25G=)
c.2026+25G= (n.2026+25G=)
c.946+25G= (n.946+25G=)
n.3173+25G=
n.3071+25G=
n.2484+25G=
n.2382+25G=
9g.114406332G>ACA198649829WHRNc.580+23C>T (n.580+23C>T)
c.2236+23C>T (n.2236+23C>T)
c.1209+23C>T
n.2117+23C>T
c.1087+23C>T (n.1087+23C>T)
c.1183+23C>T (n.1183+23C>T)
c.1573+23C>T (n.1573+23C>T)
c.2269+23C>T (n.2269+23C>T)
c.2143+23C>T (n.2143+23C>T)
c.2026+23C>T (n.2026+23C>T)
c.946+23C>T (n.946+23C>T)
n.3173+23C>T
n.3071+23C>T
n.2484+23C>T
n.2382+23C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114406332G=CA1873827040WHRNc.580+23C= (n.580+23C=)
c.2236+23C= (n.2236+23C=)
c.1209+23C=
n.2117+23C=
c.1087+23C= (n.1087+23C=)
c.1183+23C= (n.1183+23C=)
c.1573+23C= (n.1573+23C=)
c.2269+23C= (n.2269+23C=)
c.2143+23C= (n.2143+23C=)
c.2026+23C= (n.2026+23C=)
c.946+23C= (n.946+23C=)
n.3173+23C=
n.3071+23C=
n.2484+23C=
n.2382+23C=
9g.114406335C>TCA2691372594WHRNc.580+20G>A (n.580+20G>A)
c.2236+20G>A (n.2236+20G>A)
c.1209+20G>A
n.2117+20G>A
c.1087+20G>A (n.1087+20G>A)
c.1183+20G>A (n.1183+20G>A)
c.1573+20G>A (n.1573+20G>A)
c.2269+20G>A (n.2269+20G>A)
c.2143+20G>A (n.2143+20G>A)
c.2026+20G>A (n.2026+20G>A)
c.946+20G>A (n.946+20G>A)
n.3173+20G>A
n.3071+20G>A
n.2484+20G>A
n.2382+20G>A
 gnomAD v4
9g.114406336C=CA1873827041WHRNc.580+19G= (n.580+19G=)
c.2236+19G= (n.2236+19G=)
c.1209+19G=
n.2117+19G=
c.1087+19G= (n.1087+19G=)
c.1183+19G= (n.1183+19G=)
c.1573+19G= (n.1573+19G=)
c.2269+19G= (n.2269+19G=)
c.2143+19G= (n.2143+19G=)
c.2026+19G= (n.2026+19G=)
c.946+19G= (n.946+19G=)
n.3173+19G=
n.3071+19G=
n.2484+19G=
n.2382+19G=
9g.114406336C>TCA5205707WHRNc.580+19G>A (n.580+19G>A)
c.2236+19G>A (n.2236+19G>A)
c.1209+19G>A
n.2117+19G>A
c.1087+19G>A (n.1087+19G>A)
c.1183+19G>A (n.1183+19G>A)
c.1573+19G>A (n.1573+19G>A)
c.2269+19G>A (n.2269+19G>A)
c.2143+19G>A (n.2143+19G>A)
c.2026+19G>A (n.2026+19G>A)
c.946+19G>A (n.946+19G>A)
n.3173+19G>A
n.3071+19G>A
n.2484+19G>A
n.2382+19G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114406337T>ACA590141502WHRNc.580+18A>T (n.580+18A>T)
c.2236+18A>T (n.2236+18A>T)
c.1209+18A>T
n.2117+18A>T
c.1087+18A>T (n.1087+18A>T)
c.1183+18A>T (n.1183+18A>T)
c.1573+18A>T (n.1573+18A>T)
c.2269+18A>T (n.2269+18A>T)
c.2143+18A>T (n.2143+18A>T)
c.2026+18A>T (n.2026+18A>T)
c.946+18A>T (n.946+18A>T)
n.3173+18A>T
n.3071+18A>T
n.2484+18A>T
n.2382+18A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114406337T>CCA5205708WHRNc.580+18A>G (n.580+18A>G)
c.2236+18A>G (n.2236+18A>G)
c.1209+18A>G
n.2117+18A>G
c.1087+18A>G (n.1087+18A>G)
c.1183+18A>G (n.1183+18A>G)
c.1573+18A>G (n.1573+18A>G)
c.2269+18A>G (n.2269+18A>G)
c.2143+18A>G (n.2143+18A>G)
c.2026+18A>G (n.2026+18A>G)
c.946+18A>G (n.946+18A>G)
n.3173+18A>G
n.3071+18A>G
n.2484+18A>G
n.2382+18A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114406337T>GCA2691372595WHRNc.580+18A>C (n.580+18A>C)
c.2236+18A>C (n.2236+18A>C)
c.1209+18A>C
n.2117+18A>C
c.1087+18A>C (n.1087+18A>C)
c.1183+18A>C (n.1183+18A>C)
c.1573+18A>C (n.1573+18A>C)
c.2269+18A>C (n.2269+18A>C)
c.2143+18A>C (n.2143+18A>C)
c.2026+18A>C (n.2026+18A>C)
c.946+18A>C (n.946+18A>C)
n.3173+18A>C
n.3071+18A>C
n.2484+18A>C
n.2382+18A>C
 gnomAD v4
9g.114406337T=CA1873827042WHRNc.580+18A= (n.580+18A=)
c.2236+18A= (n.2236+18A=)
c.1209+18A=
n.2117+18A=
c.1087+18A= (n.1087+18A=)
c.1183+18A= (n.1183+18A=)
c.1573+18A= (n.1573+18A=)
c.2269+18A= (n.2269+18A=)
c.2143+18A= (n.2143+18A=)
c.2026+18A= (n.2026+18A=)
c.946+18A= (n.946+18A=)
n.3173+18A=
n.3071+18A=
n.2484+18A=
n.2382+18A=
9g.114406338G>ACA2573143844WHRNc.580+17C>T (n.580+17C>T)
c.2236+17C>T (n.2236+17C>T)
c.1209+17C>T
n.2117+17C>T
c.1087+17C>T (n.1087+17C>T)
c.1183+17C>T (n.1183+17C>T)
c.1573+17C>T (n.1573+17C>T)
c.2269+17C>T (n.2269+17C>T)
c.2143+17C>T (n.2143+17C>T)
c.2026+17C>T (n.2026+17C>T)
c.946+17C>T (n.946+17C>T)
n.3173+17C>T
n.3071+17C>T
n.2484+17C>T
n.2382+17C>T
 ClinVar dbSNP gnomAD v4
9g.114406338G>CCA2691372596WHRNc.580+17C>G (n.580+17C>G)
c.2236+17C>G (n.2236+17C>G)
c.1209+17C>G
n.2117+17C>G
c.1087+17C>G (n.1087+17C>G)
c.1183+17C>G (n.1183+17C>G)
c.1573+17C>G (n.1573+17C>G)
c.2269+17C>G (n.2269+17C>G)
c.2143+17C>G (n.2143+17C>G)
c.2026+17C>G (n.2026+17C>G)
c.946+17C>G (n.946+17C>G)
n.3173+17C>G
n.3071+17C>G
n.2484+17C>G
n.2382+17C>G
 gnomAD v4
9g.114406339G>ACA590141503WHRNc.580+16C>T (n.580+16C>T)
c.2236+16C>T (n.2236+16C>T)
c.1209+16C>T
n.2117+16C>T
c.1087+16C>T (n.1087+16C>T)
c.1183+16C>T (n.1183+16C>T)
c.1573+16C>T (n.1573+16C>T)
c.2269+16C>T (n.2269+16C>T)
c.2143+16C>T (n.2143+16C>T)
c.2026+16C>T (n.2026+16C>T)
c.946+16C>T (n.946+16C>T)
n.3173+16C>T
n.3071+16C>T
n.2484+16C>T
n.2382+16C>T
 dbSNP gnomAD v2 gnomAD v4
9g.114406339G=CA1873827043WHRNc.580+16C= (n.580+16C=)
c.2236+16C= (n.2236+16C=)
c.1209+16C=
n.2117+16C=
c.1087+16C= (n.1087+16C=)
c.1183+16C= (n.1183+16C=)
c.1573+16C= (n.1573+16C=)
c.2269+16C= (n.2269+16C=)
c.2143+16C= (n.2143+16C=)
c.2026+16C= (n.2026+16C=)
c.946+16C= (n.946+16C=)
n.3173+16C=
n.3071+16C=
n.2484+16C=
n.2382+16C=
9g.114406340C>ACA5205709WHRNc.580+15G>T (n.580+15G>T)
c.2236+15G>T (n.2236+15G>T)
c.1209+15G>T
n.2117+15G>T
c.1087+15G>T (n.1087+15G>T)
c.1183+15G>T (n.1183+15G>T)
c.1573+15G>T (n.1573+15G>T)
c.2269+15G>T (n.2269+15G>T)
c.2143+15G>T (n.2143+15G>T)
c.2026+15G>T (n.2026+15G>T)
c.946+15G>T (n.946+15G>T)
n.3173+15G>T
n.3071+15G>T
n.2484+15G>T
n.2382+15G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114406340C=CA1873827044WHRNc.580+15G= (n.580+15G=)
c.2236+15G= (n.2236+15G=)
c.1209+15G=
n.2117+15G=
c.1087+15G= (n.1087+15G=)
c.1183+15G= (n.1183+15G=)
c.1573+15G= (n.1573+15G=)
c.2269+15G= (n.2269+15G=)
c.2143+15G= (n.2143+15G=)
c.2026+15G= (n.2026+15G=)
c.946+15G= (n.946+15G=)
n.3173+15G=
n.3071+15G=
n.2484+15G=
n.2382+15G=
9g.114406341C>GCA2785656205WHRNc.580+14G>C (n.580+14G>C)
c.2236+14G>C (n.2236+14G>C)
c.1209+14G>C
n.2117+14G>C
c.1087+14G>C (n.1087+14G>C)
c.1183+14G>C (n.1183+14G>C)
c.1573+14G>C (n.1573+14G>C)
c.2269+14G>C (n.2269+14G>C)
c.2143+14G>C (n.2143+14G>C)
c.2026+14G>C (n.2026+14G>C)
c.946+14G>C (n.946+14G>C)
n.3173+14G>C
n.3071+14G>C
n.2484+14G>C
n.2382+14G>C
9g.114406342T>GCA2573143845WHRNc.580+13A>C (n.580+13A>C)
c.2236+13A>C (n.2236+13A>C)
c.1209+13A>C
n.2117+13A>C
c.1087+13A>C (n.1087+13A>C)
c.1183+13A>C (n.1183+13A>C)
c.1573+13A>C (n.1573+13A>C)
c.2269+13A>C (n.2269+13A>C)
c.2143+13A>C (n.2143+13A>C)
c.2026+13A>C (n.2026+13A>C)
c.946+13A>C (n.946+13A>C)
n.3173+13A>C
n.3071+13A>C
n.2484+13A>C
n.2382+13A>C
 ClinVar dbSNP
9g.114406345C=CA1873827045WHRNc.580+10G= (n.580+10G=)
c.2236+10G= (n.2236+10G=)
c.1209+10G=
n.2117+10G=
c.1087+10G= (n.1087+10G=)
c.1183+10G= (n.1183+10G=)
c.1573+10G= (n.1573+10G=)
c.2269+10G= (n.2269+10G=)
c.2143+10G= (n.2143+10G=)
c.2026+10G= (n.2026+10G=)
c.946+10G= (n.946+10G=)
n.3173+10G=
n.3071+10G=
n.2484+10G=
n.2382+10G=
9g.114406345C>TCA590141505WHRNc.580+10G>A (n.580+10G>A)
c.2236+10G>A (n.2236+10G>A)
c.1209+10G>A
n.2117+10G>A
c.1087+10G>A (n.1087+10G>A)
c.1183+10G>A (n.1183+10G>A)
c.1573+10G>A (n.1573+10G>A)
c.2269+10G>A (n.2269+10G>A)
c.2143+10G>A (n.2143+10G>A)
c.2026+10G>A (n.2026+10G>A)
c.946+10G>A (n.946+10G>A)
n.3173+10G>A
n.3071+10G>A
n.2484+10G>A
n.2382+10G>A
 dbSNP gnomAD v2 gnomAD v4
9g.114406346T>CCA2691372597WHRNc.580+9A>G (n.580+9A>G)
c.2236+9A>G (n.2236+9A>G)
c.1209+9A>G
n.2117+9A>G
c.1087+9A>G (n.1087+9A>G)
c.1183+9A>G (n.1183+9A>G)
c.1573+9A>G (n.1573+9A>G)
c.2269+9A>G (n.2269+9A>G)
c.2143+9A>G (n.2143+9A>G)
c.2026+9A>G (n.2026+9A>G)
c.946+9A>G (n.946+9A>G)
n.3173+9A>G
n.3071+9A>G
n.2484+9A>G
n.2382+9A>G
 gnomAD v4
9g.114406347G>ACA1128341183WHRNc.580+8C>T (n.580+8C>T)
c.2236+8C>T (n.2236+8C>T)
c.1209+8C>T
n.2117+8C>T
c.1087+8C>T (n.1087+8C>T)
c.1183+8C>T (n.1183+8C>T)
c.1573+8C>T (n.1573+8C>T)
c.2269+8C>T (n.2269+8C>T)
c.2143+8C>T (n.2143+8C>T)
c.2026+8C>T (n.2026+8C>T)
c.946+8C>T (n.946+8C>T)
n.3173+8C>T
n.3071+8C>T
n.2484+8C>T
n.2382+8C>T
 dbSNP gnomAD v3 gnomAD v4
9g.114406347G>CCA5205710WHRNc.580+8C>G (n.580+8C>G)
c.2236+8C>G (n.2236+8C>G)
c.1209+8C>G
n.2117+8C>G
c.1087+8C>G (n.1087+8C>G)
c.1183+8C>G (n.1183+8C>G)
c.1573+8C>G (n.1573+8C>G)
c.2269+8C>G (n.2269+8C>G)
c.2143+8C>G (n.2143+8C>G)
c.2026+8C>G (n.2026+8C>G)
c.946+8C>G (n.946+8C>G)
n.3173+8C>G
n.3071+8C>G
n.2484+8C>G
n.2382+8C>G
 dbSNP ExAC gnomAD v2
9g.114406347G=CA1873827046WHRNc.580+8C= (n.580+8C=)
c.2236+8C= (n.2236+8C=)
c.1209+8C=
n.2117+8C=
c.1087+8C= (n.1087+8C=)
c.1183+8C= (n.1183+8C=)
c.1573+8C= (n.1573+8C=)
c.2269+8C= (n.2269+8C=)
c.2143+8C= (n.2143+8C=)
c.2026+8C= (n.2026+8C=)
c.946+8C= (n.946+8C=)
n.3173+8C=
n.3071+8C=
n.2484+8C=
n.2382+8C=
9g.114406349A=CA1873827047WHRNc.580+6T= (n.580+6T=)
c.2236+6T= (n.2236+6T=)
c.1209+6T=
n.2117+6T=
c.1087+6T= (n.1087+6T=)
c.1183+6T= (n.1183+6T=)
c.1573+6T= (n.1573+6T=)
c.2269+6T= (n.2269+6T=)
c.2143+6T= (n.2143+6T=)
c.2026+6T= (n.2026+6T=)
c.946+6T= (n.946+6T=)
n.3173+6T=
n.3071+6T=
n.2484+6T=
n.2382+6T=
9g.114406349A>TCA1139661139WHRNc.580+6T>A (n.580+6T>A)
c.2236+6T>A (n.2236+6T>A)
c.1209+6T>A
n.2117+6T>A
c.1087+6T>A (n.1087+6T>A)
c.1183+6T>A (n.1183+6T>A)
c.1573+6T>A (n.1573+6T>A)
c.2269+6T>A (n.2269+6T>A)
c.2143+6T>A (n.2143+6T>A)
c.2026+6T>A (n.2026+6T>A)
c.946+6T>A (n.946+6T>A)
n.3173+6T>A
n.3071+6T>A
n.2484+6T>A
n.2382+6T>A
 ClinVar dbSNP gnomAD v4
9g.114406350C>TCA2691372598WHRNc.580+5G>A (n.580+5G>A)
c.2236+5G>A (n.2236+5G>A)
c.1209+5G>A
n.2117+5G>A
c.1087+5G>A (n.1087+5G>A)
c.1183+5G>A (n.1183+5G>A)
c.1573+5G>A (n.1573+5G>A)
c.2269+5G>A (n.2269+5G>A)
c.2143+5G>A (n.2143+5G>A)
c.2026+5G>A (n.2026+5G>A)
c.946+5G>A (n.946+5G>A)
n.3173+5G>A
n.3071+5G>A
n.2484+5G>A
n.2382+5G>A
 gnomAD v4
9g.114406352C>TCA2691372599WHRNc.580+3G>A (n.580+3G>A)
c.2236+3G>A (n.2236+3G>A)
c.1209+3G>A
n.2117+3G>A
c.1087+3G>A (n.1087+3G>A)
c.1183+3G>A (n.1183+3G>A)
c.1573+3G>A (n.1573+3G>A)
c.2269+3G>A (n.2269+3G>A)
c.2143+3G>A (n.2143+3G>A)
c.2026+3G>A (n.2026+3G>A)
c.946+3G>A (n.946+3G>A)
n.3173+3G>A
n.3071+3G>A
n.2484+3G>A
n.2382+3G>A
 gnomAD v4
9g.114406353A>CCA374620008WHRNc.580+2T>G (n.580+2T>G)
c.2236+2T>G (n.2236+2T>G)
c.1209+2T>G
n.2117+2T>G
c.1087+2T>G (n.1087+2T>G)
c.1183+2T>G (n.1183+2T>G)
c.1573+2T>G (n.1573+2T>G)
c.2269+2T>G (n.2269+2T>G)
c.2143+2T>G (n.2143+2T>G)
c.2026+2T>G (n.2026+2T>G)
c.946+2T>G (n.946+2T>G)
n.3173+2T>G
n.3071+2T>G
n.2484+2T>G
n.2382+2T>G
9g.114406353A>GCA374620009WHRNc.580+2T>C (n.580+2T>C)
c.2236+2T>C (n.2236+2T>C)
c.1209+2T>C
n.2117+2T>C
c.1087+2T>C (n.1087+2T>C)
c.1183+2T>C (n.1183+2T>C)
c.1573+2T>C (n.1573+2T>C)
c.2269+2T>C (n.2269+2T>C)
c.2143+2T>C (n.2143+2T>C)
c.2026+2T>C (n.2026+2T>C)
c.946+2T>C (n.946+2T>C)
n.3173+2T>C
n.3071+2T>C
n.2484+2T>C
n.2382+2T>C
9g.114406353A>TCA374620010WHRNc.580+2T>A (n.580+2T>A)
c.2236+2T>A (n.2236+2T>A)
c.1209+2T>A
n.2117+2T>A
c.1087+2T>A (n.1087+2T>A)
c.1183+2T>A (n.1183+2T>A)
c.1573+2T>A (n.1573+2T>A)
c.2269+2T>A (n.2269+2T>A)
c.2143+2T>A (n.2143+2T>A)
c.2026+2T>A (n.2026+2T>A)
c.946+2T>A (n.946+2T>A)
n.3173+2T>A
n.3071+2T>A
n.2484+2T>A
n.2382+2T>A
9g.114406354C>ACA374620011WHRNc.580+1G>T (n.580+1G>T)
c.2236+1G>T (n.2236+1G>T)
c.1209+1G>T
n.2117+1G>T
c.1087+1G>T (n.1087+1G>T)
c.1183+1G>T (n.1183+1G>T)
c.1573+1G>T (n.1573+1G>T)
c.2269+1G>T (n.2269+1G>T)
c.2143+1G>T (n.2143+1G>T)
c.2026+1G>T (n.2026+1G>T)
c.946+1G>T (n.946+1G>T)
n.3173+1G>T
n.3071+1G>T
n.2484+1G>T
n.2382+1G>T
9g.114406354C=CA1873827048WHRNc.580+1G= (n.580+1G=)
c.2236+1G= (n.2236+1G=)
c.1209+1G=
n.2117+1G=
c.1087+1G= (n.1087+1G=)
c.1183+1G= (n.1183+1G=)
c.1573+1G= (n.1573+1G=)
c.2269+1G= (n.2269+1G=)
c.2143+1G= (n.2143+1G=)
c.2026+1G= (n.2026+1G=)
c.946+1G= (n.946+1G=)
n.3173+1G=
n.3071+1G=
n.2484+1G=
n.2382+1G=
9g.114406354C>GCA374620012WHRNc.580+1G>C (n.580+1G>C)
c.2236+1G>C (n.2236+1G>C)
c.1209+1G>C
n.2117+1G>C
c.1087+1G>C (n.1087+1G>C)
c.1183+1G>C (n.1183+1G>C)
c.1573+1G>C (n.1573+1G>C)
c.2269+1G>C (n.2269+1G>C)
c.2143+1G>C (n.2143+1G>C)
c.2026+1G>C (n.2026+1G>C)
c.946+1G>C (n.946+1G>C)
n.3173+1G>C
n.3071+1G>C
n.2484+1G>C
n.2382+1G>C
9g.114406354C>TCA374620013WHRNc.580+1G>A (n.580+1G>A)
c.2236+1G>A (n.2236+1G>A)
c.1209+1G>A
n.2117+1G>A
c.1087+1G>A (n.1087+1G>A)
c.1183+1G>A (n.1183+1G>A)
c.1573+1G>A (n.1573+1G>A)
c.2269+1G>A (n.2269+1G>A)
c.2143+1G>A (n.2143+1G>A)
c.2026+1G>A (n.2026+1G>A)
c.946+1G>A (n.946+1G>A)
n.3173+1G>A
n.3071+1G>A
n.2484+1G>A
n.2382+1G>A
 dbSNP gnomAD v4
9g.114406355T>ACA374620014WHRNc.580A>T (p.Thr194Ser)
c.2236A>T (p.Thr746Ser)
c.1209A>T
n.2117A>T
c.1087A>T (p.Thr363Ser)
c.1183A>T (p.Thr395Ser)
c.1573A>T (p.Thr525Ser)
c.2269A>T (p.Thr757Ser)
c.2143A>T (p.Thr715Ser)
c.2026A>T (p.Thr676Ser)
c.946A>T (p.Thr316Ser)
n.3173A>T
n.3071A>T
n.2484A>T
n.2382A>T
9g.114406355T>CCA374620016WHRNc.580A>G (p.Thr194Ala)
c.2236A>G (p.Thr746Ala)
c.1209A>G
n.2117A>G
c.1087A>G (p.Thr363Ala)
c.1183A>G (p.Thr395Ala)
c.1573A>G (p.Thr525Ala)
c.2269A>G (p.Thr757Ala)
c.2143A>G (p.Thr715Ala)
c.2026A>G (p.Thr676Ala)
c.946A>G (p.Thr316Ala)
n.3173A>G
n.3071A>G
n.2484A>G
n.2382A>G
9g.114406355T>GCA374620015WHRNc.580A>C (p.Thr194Pro)
c.2236A>C (p.Thr746Pro)
c.1209A>C
n.2117A>C
c.1087A>C (p.Thr363Pro)
c.1183A>C (p.Thr395Pro)
c.1573A>C (p.Thr525Pro)
c.2269A>C (p.Thr757Pro)
c.2143A>C (p.Thr715Pro)
c.2026A>C (p.Thr676Pro)
c.946A>C (p.Thr316Pro)
n.3173A>C
n.3071A>C
n.2484A>C
n.2382A>C
9g.114406356G>ACA466782037WHRNc.579C>T (p.Arg193=)
c.2235C>T (p.Arg745=)
c.1208C>T
n.2116C>T
c.1086C>T (p.Arg362=)
c.1182C>T (p.Arg394=)
c.1572C>T (p.Arg524=)
c.2268C>T (p.Arg756=)
c.2142C>T (p.Arg714=)
c.2025C>T (p.Arg675=)
c.945C>T (p.Arg315=)
n.3172C>T
n.3070C>T
n.2483C>T
n.2381C>T
9g.114406356G>CCA466782036WHRNc.579C>G (p.Arg193=)
c.2235C>G (p.Arg745=)
c.1208C>G
n.2116C>G
c.1086C>G (p.Arg362=)
c.1182C>G (p.Arg394=)
c.1572C>G (p.Arg524=)
c.2268C>G (p.Arg756=)
c.2142C>G (p.Arg714=)
c.2025C>G (p.Arg675=)
c.945C>G (p.Arg315=)
n.3172C>G
n.3070C>G
n.2483C>G
n.2381C>G
9g.114406356G>TCA466782035WHRNc.579C>A (p.Arg193=)
c.2235C>A (p.Arg745=)
c.1208C>A
n.2116C>A
c.1086C>A (p.Arg362=)
c.1182C>A (p.Arg394=)
c.1572C>A (p.Arg524=)
c.2268C>A (p.Arg756=)
c.2142C>A (p.Arg714=)
c.2025C>A (p.Arg675=)
c.945C>A (p.Arg315=)
n.3172C>A
n.3070C>A
n.2483C>A
n.2381C>A
9g.114406357C>ACA374620017WHRNc.578G>T (p.Arg193Leu)
c.2234G>T (p.Arg745Leu)
c.1207G>T
n.2115G>T
c.1085G>T (p.Arg362Leu)
c.1181G>T (p.Arg394Leu)
c.1571G>T (p.Arg524Leu)
c.2267G>T (p.Arg756Leu)
c.2141G>T (p.Arg714Leu)
c.2024G>T (p.Arg675Leu)
c.944G>T (p.Arg315Leu)
n.3171G>T
n.3069G>T
n.2482G>T
n.2380G>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.114406357C=CA1873827049WHRNc.578G= (p.Arg193=)
c.2234G= (p.Arg745=)
c.1207G=
n.2115G=
c.1085G= (p.Arg362=)
c.1181G= (p.Arg394=)
c.1571G= (p.Arg524=)
c.2267G= (p.Arg756=)
c.2141G= (p.Arg714=)
c.2024G= (p.Arg675=)
c.944G= (p.Arg315=)
n.3171G=
n.3069G=
n.2482G=
n.2380G=
9g.114406357C>GCA374620018WHRNc.578G>C (p.Arg193Pro)
c.2234G>C (p.Arg745Pro)
c.1207G>C
n.2115G>C
c.1085G>C (p.Arg362Pro)
c.1181G>C (p.Arg394Pro)
c.1571G>C (p.Arg524Pro)
c.2267G>C (p.Arg756Pro)
c.2141G>C (p.Arg714Pro)
c.2024G>C (p.Arg675Pro)
c.944G>C (p.Arg315Pro)
n.3171G>C
n.3069G>C
n.2482G>C
n.2380G>C
 ClinVar gnomAD v4
9g.114406357C>TCA5205711WHRNc.578G>A (p.Arg193His)
c.2234G>A (p.Arg745His)
c.1207G>A
n.2115G>A
c.1085G>A (p.Arg362His)
c.1181G>A (p.Arg394His)
c.1571G>A (p.Arg524His)
c.2267G>A (p.Arg756His)
c.2141G>A (p.Arg714His)
c.2024G>A (p.Arg675His)
c.944G>A (p.Arg315His)
n.3171G>A
n.3069G>A
n.2482G>A
n.2380G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114406358G>ACA5205712WHRNc.577C>T (p.Arg193Cys)
c.2233C>T (p.Arg745Cys)
c.1206C>T
n.2114C>T
c.1084C>T (p.Arg362Cys)
c.1180C>T (p.Arg394Cys)
c.1570C>T (p.Arg524Cys)
c.2266C>T (p.Arg756Cys)
c.2140C>T (p.Arg714Cys)
c.2023C>T (p.Arg675Cys)
c.943C>T (p.Arg315Cys)
n.3170C>T
n.3068C>T
n.2481C>T
n.2379C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114406358G>CCA374620019WHRNc.577C>G (p.Arg193Gly)
c.2233C>G (p.Arg745Gly)
c.1206C>G
n.2114C>G
c.1084C>G (p.Arg362Gly)
c.1180C>G (p.Arg394Gly)
c.1570C>G (p.Arg524Gly)
c.2266C>G (p.Arg756Gly)
c.2140C>G (p.Arg714Gly)
c.2023C>G (p.Arg675Gly)
c.943C>G (p.Arg315Gly)
n.3170C>G
n.3068C>G
n.2481C>G
n.2379C>G
9g.114406358G=CA1873827050WHRNc.577C= (p.Arg193=)
c.2233C= (p.Arg745=)
c.1206C=
n.2114C=
c.1084C= (p.Arg362=)
c.1180C= (p.Arg394=)
c.1570C= (p.Arg524=)
c.2266C= (p.Arg756=)
c.2140C= (p.Arg714=)
c.2023C= (p.Arg675=)
c.943C= (p.Arg315=)
n.3170C=
n.3068C=
n.2481C=
n.2379C=
9g.114406358G>TCA374620020WHRNc.577C>A (p.Arg193Ser)
c.2233C>A (p.Arg745Ser)
c.1206C>A
n.2114C>A
c.1084C>A (p.Arg362Ser)
c.1180C>A (p.Arg394Ser)
c.1570C>A (p.Arg524Ser)
c.2266C>A (p.Arg756Ser)
c.2140C>A (p.Arg714Ser)
c.2023C>A (p.Arg675Ser)
c.943C>A (p.Arg315Ser)
n.3170C>A
n.3068C>A
n.2481C>A
n.2379C>A
9g.114406359C>ACA466782038WHRNc.576G>T (p.Thr192=)
c.2232G>T (p.Thr744=)
c.1205G>T
n.2113G>T
c.1083G>T (p.Thr361=)
c.1179G>T (p.Thr393=)
c.1569G>T (p.Thr523=)
c.2265G>T (p.Thr755=)
c.2139G>T (p.Thr713=)
c.2022G>T (p.Thr674=)
c.942G>T (p.Thr314=)
n.3169G>T
n.3067G>T
n.2480G>T
n.2378G>T
9g.114406359C=CA1873827051WHRNc.576G= (p.Thr192=)
c.2232G= (p.Thr744=)
c.1205G=
n.2113G=
c.1083G= (p.Thr361=)
c.1179G= (p.Thr393=)
c.1569G= (p.Thr523=)
c.2265G= (p.Thr755=)
c.2139G= (p.Thr713=)
c.2022G= (p.Thr674=)
c.942G= (p.Thr314=)
n.3169G=
n.3067G=
n.2480G=
n.2378G=
9g.114406359C>GCA466782039WHRNc.576G>C (p.Thr192=)
c.2232G>C (p.Thr744=)
c.1205G>C
n.2113G>C
c.1083G>C (p.Thr361=)
c.1179G>C (p.Thr393=)
c.1569G>C (p.Thr523=)
c.2265G>C (p.Thr755=)
c.2139G>C (p.Thr713=)
c.2022G>C (p.Thr674=)
c.942G>C (p.Thr314=)
n.3169G>C
n.3067G>C
n.2480G>C
n.2378G>C
9g.114406359C>TCA5205713WHRNc.576G>A (p.Thr192=)
c.2232G>A (p.Thr744=)
c.1205G>A
n.2113G>A
c.1083G>A (p.Thr361=)
c.1179G>A (p.Thr393=)
c.1569G>A (p.Thr523=)
c.2265G>A (p.Thr755=)
c.2139G>A (p.Thr713=)
c.2022G>A (p.Thr674=)
c.942G>A (p.Thr314=)
n.3169G>A
n.3067G>A
n.2480G>A
n.2378G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.114406360G>ACA5205714WHRNc.575C>T (p.Thr192Met)
c.2231C>T (p.Thr744Met)
c.1204C>T
n.2112C>T
c.1082C>T (p.Thr361Met)
c.1178C>T (p.Thr393Met)
c.1568C>T (p.Thr523Met)
c.2264C>T (p.Thr755Met)
c.2138C>T (p.Thr713Met)
c.2021C>T (p.Thr674Met)
c.941C>T (p.Thr314Met)
n.3168C>T
n.3066C>T
n.2479C>T
n.2377C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.114406360G>CCA5205715WHRNc.575C>G (p.Thr192Arg)
c.2231C>G (p.Thr744Arg)
c.1204C>G
n.2112C>G
c.1082C>G (p.Thr361Arg)
c.1178C>G (p.Thr393Arg)
c.1568C>G (p.Thr523Arg)
c.2264C>G (p.Thr755Arg)
c.2138C>G (p.Thr713Arg)
c.2021C>G (p.Thr674Arg)
c.941C>G (p.Thr314Arg)
n.3168C>G
n.3066C>G
n.2479C>G
n.2377C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114406360G=CA1873827052WHRNc.575C= (p.Thr192=)
c.2231C= (p.Thr744=)
c.1204C=
n.2112C=
c.1082C= (p.Thr361=)
c.1178C= (p.Thr393=)
c.1568C= (p.Thr523=)
c.2264C= (p.Thr755=)
c.2138C= (p.Thr713=)
c.2021C= (p.Thr674=)
c.941C= (p.Thr314=)
n.3168C=
n.3066C=
n.2479C=
n.2377C=
9g.114406360G>TCA374620021WHRNc.575C>A (p.Thr192Lys)
c.2231C>A (p.Thr744Lys)
c.1204C>A
n.2112C>A
c.1082C>A (p.Thr361Lys)
c.1178C>A (p.Thr393Lys)
c.1568C>A (p.Thr523Lys)
c.2264C>A (p.Thr755Lys)
c.2138C>A (p.Thr713Lys)
c.2021C>A (p.Thr674Lys)
c.941C>A (p.Thr314Lys)
n.3168C>A
n.3066C>A
n.2479C>A
n.2377C>A
 dbSNP gnomAD v2 gnomAD v4
9g.114406361_114406367dupCA2691372600WHRNc.569_575dup (p.Arg193ProfsTer?)
c.2225_2231dup (p.Arg745ProfsTer?)
c.1198_1204dup
n.2106_2112dup
c.1076_1082dup (p.Arg362ProfsTer?)
c.1172_1178dup (p.Arg394ProfsTer?)
c.1562_1568dup (p.Arg524ProfsTer?)
c.2258_2264dup (p.Arg756ProfsTer?)
c.2132_2138dup (p.Arg714ProfsTer?)
c.2015_2021dup (p.Arg675ProfsTer?)
c.935_941dup (p.Arg315ProfsTer?)
n.3162_3168dup
n.3060_3066dup
n.2473_2479dup
n.2371_2377dup
 gnomAD v4
9g.114406361T>ACA374620023WHRNc.574A>T (p.Thr192Ser)
c.2230A>T (p.Thr744Ser)
c.1203A>T
n.2111A>T
c.1081A>T (p.Thr361Ser)
c.1177A>T (p.Thr393Ser)
c.1567A>T (p.Thr523Ser)
c.2263A>T (p.Thr755Ser)
c.2137A>T (p.Thr713Ser)
c.2020A>T (p.Thr674Ser)
c.940A>T (p.Thr314Ser)
n.3167A>T
n.3065A>T
n.2478A>T
n.2376A>T
9g.114406361T>CCA374620024WHRNc.574A>G (p.Thr192Ala)
c.2230A>G (p.Thr744Ala)
c.1203A>G
n.2111A>G
c.1081A>G (p.Thr361Ala)
c.1177A>G (p.Thr393Ala)
c.1567A>G (p.Thr523Ala)
c.2263A>G (p.Thr755Ala)
c.2137A>G (p.Thr713Ala)
c.2020A>G (p.Thr674Ala)
c.940A>G (p.Thr314Ala)
n.3167A>G
n.3065A>G
n.2478A>G
n.2376A>G
9g.114406361T>GCA374620022WHRNc.574A>C (p.Thr192Pro)
c.2230A>C (p.Thr744Pro)
c.1203A>C
n.2111A>C
c.1081A>C (p.Thr361Pro)
c.1177A>C (p.Thr393Pro)
c.1567A>C (p.Thr523Pro)
c.2263A>C (p.Thr755Pro)
c.2137A>C (p.Thr713Pro)
c.2020A>C (p.Thr674Pro)
c.940A>C (p.Thr314Pro)
n.3167A>C
n.3065A>C
n.2478A>C
n.2376A>C
9g.114406362C>ACA374620025WHRNc.573G>T (p.Gln191His)
c.2229G>T (p.Gln743His)
c.1202G>T
n.2110G>T
c.1080G>T (p.Gln360His)
c.1176G>T (p.Gln392His)
c.1566G>T (p.Gln522His)
c.2262G>T (p.Gln754His)
c.2136G>T (p.Gln712His)
c.2019G>T (p.Gln673His)
c.939G>T (p.Gln313His)
n.3166G>T
n.3064G>T
n.2477G>T
n.2375G>T
9g.114406362C>GCA374620026WHRNc.573G>C (p.Gln191His)
c.2229G>C (p.Gln743His)
c.1202G>C
n.2110G>C
c.1080G>C (p.Gln360His)
c.1176G>C (p.Gln392His)
c.1566G>C (p.Gln522His)
c.2262G>C (p.Gln754His)
c.2136G>C (p.Gln712His)
c.2019G>C (p.Gln673His)
c.939G>C (p.Gln313His)
n.3166G>C
n.3064G>C
n.2477G>C
n.2375G>C
9g.114406362C>TCA466782040WHRNc.573G>A (p.Gln191=)
c.2229G>A (p.Gln743=)
c.1202G>A
n.2110G>A
c.1080G>A (p.Gln360=)
c.1176G>A (p.Gln392=)
c.1566G>A (p.Gln522=)
c.2262G>A (p.Gln754=)
c.2136G>A (p.Gln712=)
c.2019G>A (p.Gln673=)
c.939G>A (p.Gln313=)
n.3166G>A
n.3064G>A
n.2477G>A
n.2375G>A
9g.114406363T>ACA374620027WHRNc.572A>T (p.Gln191Leu)
c.2228A>T (p.Gln743Leu)
c.1201A>T
n.2109A>T
c.1079A>T (p.Gln360Leu)
c.1175A>T (p.Gln392Leu)
c.1565A>T (p.Gln522Leu)
c.2261A>T (p.Gln754Leu)
c.2135A>T (p.Gln712Leu)
c.2018A>T (p.Gln673Leu)
c.938A>T (p.Gln313Leu)
n.3165A>T
n.3063A>T
n.2476A>T
n.2374A>T
9g.114406363T>CCA374620028WHRNc.572A>G (p.Gln191Arg)
c.2228A>G (p.Gln743Arg)
c.1201A>G
n.2109A>G
c.1079A>G (p.Gln360Arg)
c.1175A>G (p.Gln392Arg)
c.1565A>G (p.Gln522Arg)
c.2261A>G (p.Gln754Arg)
c.2135A>G (p.Gln712Arg)
c.2018A>G (p.Gln673Arg)
c.938A>G (p.Gln313Arg)
n.3165A>G
n.3063A>G
n.2476A>G
n.2374A>G
9g.114406363T>GCA374620029WHRNc.572A>C (p.Gln191Pro)
c.2228A>C (p.Gln743Pro)
c.1201A>C
n.2109A>C
c.1079A>C (p.Gln360Pro)
c.1175A>C (p.Gln392Pro)
c.1565A>C (p.Gln522Pro)
c.2261A>C (p.Gln754Pro)
c.2135A>C (p.Gln712Pro)
c.2018A>C (p.Gln673Pro)
c.938A>C (p.Gln313Pro)
n.3165A>C
n.3063A>C
n.2476A>C
n.2374A>C
9g.114406364G>ACA374620032WHRNc.571C>T (p.Gln191Ter)
c.2227C>T (p.Gln743Ter)
c.1200C>T
n.2108C>T
c.1078C>T (p.Gln360Ter)
c.1174C>T (p.Gln392Ter)
c.1564C>T (p.Gln522Ter)
c.2260C>T (p.Gln754Ter)
c.2134C>T (p.Gln712Ter)
c.2017C>T (p.Gln673Ter)
c.937C>T (p.Gln313Ter)
n.3164C>T
n.3062C>T
n.2475C>T
n.2373C>T
 gnomAD v4
9g.114406364G>CCA374620031WHRNc.571C>G (p.Gln191Glu)
c.2227C>G (p.Gln743Glu)
c.1200C>G
n.2108C>G
c.1078C>G (p.Gln360Glu)
c.1174C>G (p.Gln392Glu)
c.1564C>G (p.Gln522Glu)
c.2260C>G (p.Gln754Glu)
c.2134C>G (p.Gln712Glu)
c.2017C>G (p.Gln673Glu)
c.937C>G (p.Gln313Glu)
n.3164C>G
n.3062C>G
n.2475C>G
n.2373C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114406364G=CA1873827053WHRNc.571C= (p.Gln191=)
c.2227C= (p.Gln743=)
c.1200C=
n.2108C=
c.1078C= (p.Gln360=)
c.1174C= (p.Gln392=)
c.1564C= (p.Gln522=)
c.2260C= (p.Gln754=)
c.2134C= (p.Gln712=)
c.2017C= (p.Gln673=)
c.937C= (p.Gln313=)
n.3164C=
n.3062C=
n.2475C=
n.2373C=
9g.114406364G>TCA374620030WHRNc.571C>A (p.Gln191Lys)
c.2227C>A (p.Gln743Lys)
c.1200C>A
n.2108C>A
c.1078C>A (p.Gln360Lys)
c.1174C>A (p.Gln392Lys)
c.1564C>A (p.Gln522Lys)
c.2260C>A (p.Gln754Lys)
c.2134C>A (p.Gln712Lys)
c.2017C>A (p.Gln673Lys)
c.937C>A (p.Gln313Lys)
n.3164C>A
n.3062C>A
n.2475C>A
n.2373C>A
9g.114406365G>ACA466782041WHRNc.570C>T (p.Pro190=)
c.2226C>T (p.Pro742=)
c.1199C>T
n.2107C>T
c.1077C>T (p.Pro359=)
c.1173C>T (p.Pro391=)
c.1563C>T (p.Pro521=)
c.2259C>T (p.Pro753=)
c.2133C>T (p.Pro711=)
c.2016C>T (p.Pro672=)
c.936C>T (p.Pro312=)
n.3163C>T
n.3061C>T
n.2474C>T
n.2372C>T
 dbSNP gnomAD v2 gnomAD v4
9g.114406365G>CCA466782042WHRNc.570C>G (p.Pro190=)
c.2226C>G (p.Pro742=)
c.1199C>G
n.2107C>G
c.1077C>G (p.Pro359=)
c.1173C>G (p.Pro391=)
c.1563C>G (p.Pro521=)
c.2259C>G (p.Pro753=)
c.2133C>G (p.Pro711=)
c.2016C>G (p.Pro672=)
c.936C>G (p.Pro312=)
n.3163C>G
n.3061C>G
n.2474C>G
n.2372C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114406365G=CA1873827054WHRNc.570C= (p.Pro190=)
c.2226C= (p.Pro742=)
c.1199C=
n.2107C=
c.1077C= (p.Pro359=)
c.1173C= (p.Pro391=)
c.1563C= (p.Pro521=)
c.2259C= (p.Pro753=)
c.2133C= (p.Pro711=)
c.2016C= (p.Pro672=)
c.936C= (p.Pro312=)
n.3163C=
n.3061C=
n.2474C=
n.2372C=
9g.114406365G>TCA466782043WHRNc.570C>A (p.Pro190=)
c.2226C>A (p.Pro742=)
c.1199C>A
n.2107C>A
c.1077C>A (p.Pro359=)
c.1173C>A (p.Pro391=)
c.1563C>A (p.Pro521=)
c.2259C>A (p.Pro753=)
c.2133C>A (p.Pro711=)
c.2016C>A (p.Pro672=)
c.936C>A (p.Pro312=)
n.3163C>A
n.3061C>A
n.2474C>A
n.2372C>A
9g.114406366G>ACA374620033WHRNc.569C>T (p.Pro190Leu)
c.2225C>T (p.Pro742Leu)
c.1198C>T
n.2106C>T
c.1076C>T (p.Pro359Leu)
c.1172C>T (p.Pro391Leu)
c.1562C>T (p.Pro521Leu)
c.2258C>T (p.Pro753Leu)
c.2132C>T (p.Pro711Leu)
c.2015C>T (p.Pro672Leu)
c.935C>T (p.Pro312Leu)
n.3162C>T
n.3060C>T
n.2473C>T
n.2371C>T
 ClinVar COSMIC COSMIC
9g.114406366G>CCA374620034WHRNc.569C>G (p.Pro190Arg)
c.2225C>G (p.Pro742Arg)
c.1198C>G
n.2106C>G
c.1076C>G (p.Pro359Arg)
c.1172C>G (p.Pro391Arg)
c.1562C>G (p.Pro521Arg)
c.2258C>G (p.Pro753Arg)
c.2132C>G (p.Pro711Arg)
c.2015C>G (p.Pro672Arg)
c.935C>G (p.Pro312Arg)
n.3162C>G
n.3060C>G
n.2473C>G
n.2371C>G
9g.114406366G>TCA374620035WHRNc.569C>A (p.Pro190His)
c.2225C>A (p.Pro742His)
c.1198C>A
n.2106C>A
c.1076C>A (p.Pro359His)
c.1172C>A (p.Pro391His)
c.1562C>A (p.Pro521His)
c.2258C>A (p.Pro753His)
c.2132C>A (p.Pro711His)
c.2015C>A (p.Pro672His)
c.935C>A (p.Pro312His)
n.3162C>A
n.3060C>A
n.2473C>A
n.2371C>A
 gnomAD v4
9g.114406367G>ACA374620036WHRNc.568C>T (p.Pro190Ser)
c.2224C>T (p.Pro742Ser)
c.1197C>T
n.2105C>T
c.1075C>T (p.Pro359Ser)
c.1171C>T (p.Pro391Ser)
c.1561C>T (p.Pro521Ser)
c.2257C>T (p.Pro753Ser)
c.2131C>T (p.Pro711Ser)
c.2014C>T (p.Pro672Ser)
c.934C>T (p.Pro312Ser)
n.3161C>T
n.3059C>T
n.2472C>T
n.2370C>T
 dbSNP
9g.114406367G>CCA374620037WHRNc.568C>G (p.Pro190Ala)
c.2224C>G (p.Pro742Ala)
c.1197C>G
n.2105C>G
c.1075C>G (p.Pro359Ala)
c.1171C>G (p.Pro391Ala)
c.1561C>G (p.Pro521Ala)
c.2257C>G (p.Pro753Ala)
c.2131C>G (p.Pro711Ala)
c.2014C>G (p.Pro672Ala)
c.934C>G (p.Pro312Ala)
n.3161C>G
n.3059C>G
n.2472C>G
n.2370C>G
9g.114406367G=CA1873827055WHRNc.568C= (p.Pro190=)
c.2224C= (p.Pro742=)
c.1197C=
n.2105C=
c.1075C= (p.Pro359=)
c.1171C= (p.Pro391=)
c.1561C= (p.Pro521=)
c.2257C= (p.Pro753=)
c.2131C= (p.Pro711=)
c.2014C= (p.Pro672=)
c.934C= (p.Pro312=)
n.3161C=
n.3059C=
n.2472C=
n.2370C=
9g.114406367G>TCA374620038WHRNc.568C>A (p.Pro190Thr)
c.2224C>A (p.Pro742Thr)
c.1197C>A
n.2105C>A
c.1075C>A (p.Pro359Thr)
c.1171C>A (p.Pro391Thr)
c.1561C>A (p.Pro521Thr)
c.2257C>A (p.Pro753Thr)
c.2131C>A (p.Pro711Thr)
c.2014C>A (p.Pro672Thr)
c.934C>A (p.Pro312Thr)
n.3161C>A
n.3059C>A
n.2472C>A
n.2370C>A
9g.114406368C>ACA466782044WHRNc.567G>T (p.Leu189=)
c.2223G>T (p.Leu741=)
c.1196G>T
n.2104G>T
c.1074G>T (p.Leu358=)
c.1170G>T (p.Leu390=)
c.1560G>T (p.Leu520=)
c.2256G>T (p.Leu752=)
c.2130G>T (p.Leu710=)
c.2013G>T (p.Leu671=)
c.933G>T (p.Leu311=)
n.3160G>T
n.3058G>T
n.2471G>T
n.2369G>T
9g.114406368C=CA1873827056WHRNc.567G= (p.Leu189=)
c.2223G= (p.Leu741=)
c.1196G=
n.2104G=
c.1074G= (p.Leu358=)
c.1170G= (p.Leu390=)
c.1560G= (p.Leu520=)
c.2256G= (p.Leu752=)
c.2130G= (p.Leu710=)
c.2013G= (p.Leu671=)
c.933G= (p.Leu311=)
n.3160G=
n.3058G=
n.2471G=
n.2369G=
9g.114406368C>GCA466782045WHRNc.567G>C (p.Leu189=)
c.2223G>C (p.Leu741=)
c.1196G>C
n.2104G>C
c.1074G>C (p.Leu358=)
c.1170G>C (p.Leu390=)
c.1560G>C (p.Leu520=)
c.2256G>C (p.Leu752=)
c.2130G>C (p.Leu710=)
c.2013G>C (p.Leu671=)
c.933G>C (p.Leu311=)
n.3160G>C
n.3058G>C
n.2471G>C
n.2369G>C
 ClinVar dbSNP
9g.114406368C>TCA466782046WHRNc.567G>A (p.Leu189=)
c.2223G>A (p.Leu741=)
c.1196G>A
n.2104G>A
c.1074G>A (p.Leu358=)
c.1170G>A (p.Leu390=)
c.1560G>A (p.Leu520=)
c.2256G>A (p.Leu752=)
c.2130G>A (p.Leu710=)
c.2013G>A (p.Leu671=)
c.933G>A (p.Leu311=)
n.3160G>A
n.3058G>A
n.2471G>A
n.2369G>A
 dbSNP gnomAD v4
9g.114406369A>CCA374620039WHRNc.566T>G (p.Leu189Arg)
c.2222T>G (p.Leu741Arg)
c.1195T>G
n.2103T>G
c.1073T>G (p.Leu358Arg)
c.1169T>G (p.Leu390Arg)
c.1559T>G (p.Leu520Arg)
c.2255T>G (p.Leu752Arg)
c.2129T>G (p.Leu710Arg)
c.2012T>G (p.Leu671Arg)
c.932T>G (p.Leu311Arg)
n.3159T>G
n.3057T>G
n.2470T>G
n.2368T>G
9g.114406369A>GCA374620041WHRNc.566T>C (p.Leu189Pro)
c.2222T>C (p.Leu741Pro)
c.1195T>C
n.2103T>C
c.1073T>C (p.Leu358Pro)
c.1169T>C (p.Leu390Pro)
c.1559T>C (p.Leu520Pro)
c.2255T>C (p.Leu752Pro)
c.2129T>C (p.Leu710Pro)
c.2012T>C (p.Leu671Pro)
c.932T>C (p.Leu311Pro)
n.3159T>C
n.3057T>C
n.2470T>C
n.2368T>C
9g.114406369A>TCA374620040WHRNc.566T>A (p.Leu189Gln)
c.2222T>A (p.Leu741Gln)
c.1195T>A
n.2103T>A
c.1073T>A (p.Leu358Gln)
c.1169T>A (p.Leu390Gln)
c.1559T>A (p.Leu520Gln)
c.2255T>A (p.Leu752Gln)
c.2129T>A (p.Leu710Gln)
c.2012T>A (p.Leu671Gln)
c.932T>A (p.Leu311Gln)
n.3159T>A
n.3057T>A
n.2470T>A
n.2368T>A
9g.114406370G>ACA466782047WHRNc.565C>T (p.Leu189=)
c.2221C>T (p.Leu741=)
c.1194C>T
n.2102C>T
c.1072C>T (p.Leu358=)
c.1168C>T (p.Leu390=)
c.1558C>T (p.Leu520=)
c.2254C>T (p.Leu752=)
c.2128C>T (p.Leu710=)
c.2011C>T (p.Leu671=)
c.931C>T (p.Leu311=)
n.3158C>T
n.3056C>T
n.2469C>T
n.2367C>T
9g.114406370G>CCA374620042WHRNc.565C>G (p.Leu189Val)
c.2221C>G (p.Leu741Val)
c.1194C>G
n.2102C>G
c.1072C>G (p.Leu358Val)
c.1168C>G (p.Leu390Val)
c.1558C>G (p.Leu520Val)
c.2254C>G (p.Leu752Val)
c.2128C>G (p.Leu710Val)
c.2011C>G (p.Leu671Val)
c.931C>G (p.Leu311Val)
n.3158C>G
n.3056C>G
n.2469C>G
n.2367C>G
9g.114406370G>TCA374620043WHRNc.565C>A (p.Leu189Met)
c.2221C>A (p.Leu741Met)
c.1194C>A
n.2102C>A
c.1072C>A (p.Leu358Met)
c.1168C>A (p.Leu390Met)
c.1558C>A (p.Leu520Met)
c.2254C>A (p.Leu752Met)
c.2128C>A (p.Leu710Met)
c.2011C>A (p.Leu671Met)
c.931C>A (p.Leu311Met)
n.3158C>A
n.3056C>A
n.2469C>A
n.2367C>A
9g.114406371C>ACA466782049WHRNc.564G>T (p.Ala188=)
c.2220G>T (p.Ala740=)
c.1193G>T
n.2101G>T
c.1071G>T (p.Ala357=)
c.1167G>T (p.Ala389=)
c.1557G>T (p.Ala519=)
c.2253G>T (p.Ala751=)
c.2127G>T (p.Ala709=)
c.2010G>T (p.Ala670=)
c.930G>T (p.Ala310=)
n.3157G>T
n.3055G>T
n.2468G>T
n.2366G>T
 ClinVar gnomAD v4
9g.114406371C=CA1873827057WHRNc.564G= (p.Ala188=)
c.2220G= (p.Ala740=)
c.1193G=
n.2101G=
c.1071G= (p.Ala357=)
c.1167G= (p.Ala389=)
c.1557G= (p.Ala519=)
c.2253G= (p.Ala751=)
c.2127G= (p.Ala709=)
c.2010G= (p.Ala670=)
c.930G= (p.Ala310=)
n.3157G=
n.3055G=
n.2468G=
n.2366G=
9g.114406371C>GCA466782050WHRNc.564G>C (p.Ala188=)
c.2220G>C (p.Ala740=)
c.1193G>C
n.2101G>C
c.1071G>C (p.Ala357=)
c.1167G>C (p.Ala389=)
c.1557G>C (p.Ala519=)
c.2253G>C (p.Ala751=)
c.2127G>C (p.Ala709=)
c.2010G>C (p.Ala670=)
c.930G>C (p.Ala310=)
n.3157G>C
n.3055G>C
n.2468G>C
n.2366G>C
9g.114406371C>TCA5205716WHRNc.564G>A (p.Ala188=)
c.2220G>A (p.Ala740=)
c.1193G>A
n.2101G>A
c.1071G>A (p.Ala357=)
c.1167G>A (p.Ala389=)
c.1557G>A (p.Ala519=)
c.2253G>A (p.Ala751=)
c.2127G>A (p.Ala709=)
c.2010G>A (p.Ala670=)
c.930G>A (p.Ala310=)
n.3157G>A
n.3055G>A
n.2468G>A
n.2366G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114406372G>ACA16618728WHRNc.563C>T (p.Ala188Val)
c.2219C>T (p.Ala740Val)
c.1192C>T
n.2100C>T
c.1070C>T (p.Ala357Val)
c.1166C>T (p.Ala389Val)
c.1556C>T (p.Ala519Val)
c.2252C>T (p.Ala751Val)
c.2126C>T (p.Ala709Val)
c.2009C>T (p.Ala670Val)
c.929C>T (p.Ala310Val)
n.3156C>T
n.3054C>T
n.2467C>T
n.2365C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.114406372G>CCA374620044WHRNc.563C>G (p.Ala188Gly)
c.2219C>G (p.Ala740Gly)
c.1192C>G
n.2100C>G
c.1070C>G (p.Ala357Gly)
c.1166C>G (p.Ala389Gly)
c.1556C>G (p.Ala519Gly)
c.2252C>G (p.Ala751Gly)
c.2126C>G (p.Ala709Gly)
c.2009C>G (p.Ala670Gly)
c.929C>G (p.Ala310Gly)
n.3156C>G
n.3054C>G
n.2467C>G
n.2365C>G
 gnomAD v4
9g.114406372G=CA1873827058WHRNc.563C= (p.Ala188=)
c.2219C= (p.Ala740=)
c.1192C=
n.2100C=
c.1070C= (p.Ala357=)
c.1166C= (p.Ala389=)
c.1556C= (p.Ala519=)
c.2252C= (p.Ala751=)
c.2126C= (p.Ala709=)
c.2009C= (p.Ala670=)
c.929C= (p.Ala310=)
n.3156C=
n.3054C=
n.2467C=
n.2365C=
9g.114406372G>TCA374620045WHRNc.563C>A (p.Ala188Glu)
c.2219C>A (p.Ala740Glu)
c.1192C>A
n.2100C>A
c.1070C>A (p.Ala357Glu)
c.1166C>A (p.Ala389Glu)
c.1556C>A (p.Ala519Glu)
c.2252C>A (p.Ala751Glu)
c.2126C>A (p.Ala709Glu)
c.2009C>A (p.Ala670Glu)
c.929C>A (p.Ala310Glu)
n.3156C>A
n.3054C>A
n.2467C>A
n.2365C>A
 dbSNP gnomAD v2 gnomAD v4
9g.114406373C>ACA374620046WHRNc.562G>T (p.Ala188Ser)
c.2218G>T (p.Ala740Ser)
c.1191G>T
n.2099G>T
c.1069G>T (p.Ala357Ser)
c.1165G>T (p.Ala389Ser)
c.1555G>T (p.Ala519Ser)
c.2251G>T (p.Ala751Ser)
c.2125G>T (p.Ala709Ser)
c.2008G>T (p.Ala670Ser)
c.928G>T (p.Ala310Ser)
n.3155G>T
n.3053G>T
n.2466G>T
n.2364G>T
9g.114406373C>GCA374620047WHRNc.562G>C (p.Ala188Pro)
c.2218G>C (p.Ala740Pro)
c.1191G>C
n.2099G>C
c.1069G>C (p.Ala357Pro)
c.1165G>C (p.Ala389Pro)
c.1555G>C (p.Ala519Pro)
c.2251G>C (p.Ala751Pro)
c.2125G>C (p.Ala709Pro)
c.2008G>C (p.Ala670Pro)
c.928G>C (p.Ala310Pro)
n.3155G>C
n.3053G>C
n.2466G>C
n.2364G>C
 gnomAD v4
9g.114406373C>TCA374620048WHRNc.562G>A (p.Ala188Thr)
c.2218G>A (p.Ala740Thr)
c.1191G>A
n.2099G>A
c.1069G>A (p.Ala357Thr)
c.1165G>A (p.Ala389Thr)
c.1555G>A (p.Ala519Thr)
c.2251G>A (p.Ala751Thr)
c.2125G>A (p.Ala709Thr)
c.2008G>A (p.Ala670Thr)
c.928G>A (p.Ala310Thr)
n.3155G>A
n.3053G>A
n.2466G>A
n.2364G>A
9g.114406374C>ACA374620049WHRNc.561G>T (p.Arg187Ser)
c.2217G>T (p.Arg739Ser)
c.1190G>T
n.2098G>T
c.1068G>T (p.Arg356Ser)
c.1164G>T (p.Arg388Ser)
c.1554G>T (p.Arg518Ser)
c.2250G>T (p.Arg750Ser)
c.2124G>T (p.Arg708Ser)
c.2007G>T (p.Arg669Ser)
c.927G>T (p.Arg309Ser)
n.3154G>T
n.3052G>T
n.2465G>T
n.2363G>T
9g.114406374C>GCA374620050WHRNc.561G>C (p.Arg187Ser)
c.2217G>C (p.Arg739Ser)
c.1190G>C
n.2098G>C
c.1068G>C (p.Arg356Ser)
c.1164G>C (p.Arg388Ser)
c.1554G>C (p.Arg518Ser)
c.2250G>C (p.Arg750Ser)
c.2124G>C (p.Arg708Ser)
c.2007G>C (p.Arg669Ser)
c.927G>C (p.Arg309Ser)
n.3154G>C
n.3052G>C
n.2465G>C
n.2363G>C
 gnomAD v4
9g.114406374C>TCA466782051WHRNc.561G>A (p.Arg187=)
c.2217G>A (p.Arg739=)
c.1190G>A
n.2098G>A
c.1068G>A (p.Arg356=)
c.1164G>A (p.Arg388=)
c.1554G>A (p.Arg518=)
c.2250G>A (p.Arg750=)
c.2124G>A (p.Arg708=)
c.2007G>A (p.Arg669=)
c.927G>A (p.Arg309=)
n.3154G>A
n.3052G>A
n.2465G>A
n.2363G>A
9g.114406375C>ACA374620053WHRNc.560G>T (p.Arg187Met)
c.2216G>T (p.Arg739Met)
c.1189G>T
n.2097G>T
c.1067G>T (p.Arg356Met)
c.1163G>T (p.Arg388Met)
c.1553G>T (p.Arg518Met)
c.2249G>T (p.Arg750Met)
c.2123G>T (p.Arg708Met)
c.2006G>T (p.Arg669Met)
c.926G>T (p.Arg309Met)
n.3153G>T
n.3051G>T
n.2464G>T
n.2362G>T
9g.114406375C=CA1873827059WHRNc.560G= (p.Arg187=)
c.2216G= (p.Arg739=)
c.1189G=
n.2097G=
c.1067G= (p.Arg356=)
c.1163G= (p.Arg388=)
c.1553G= (p.Arg518=)
c.2249G= (p.Arg750=)
c.2123G= (p.Arg708=)
c.2006G= (p.Arg669=)
c.926G= (p.Arg309=)
n.3153G=
n.3051G=
n.2464G=
n.2362G=
9g.114406375C>GCA374620052WHRNc.560G>C (p.Arg187Thr)
c.2216G>C (p.Arg739Thr)
c.1189G>C
n.2097G>C
c.1067G>C (p.Arg356Thr)
c.1163G>C (p.Arg388Thr)
c.1553G>C (p.Arg518Thr)
c.2249G>C (p.Arg750Thr)
c.2123G>C (p.Arg708Thr)
c.2006G>C (p.Arg669Thr)
c.926G>C (p.Arg309Thr)
n.3153G>C
n.3051G>C
n.2464G>C
n.2362G>C
9g.114406375C>TCA374620051WHRNc.560G>A (p.Arg187Lys)
c.2216G>A (p.Arg739Lys)
c.1189G>A
n.2097G>A
c.1067G>A (p.Arg356Lys)
c.1163G>A (p.Arg388Lys)
c.1553G>A (p.Arg518Lys)
c.2249G>A (p.Arg750Lys)
c.2123G>A (p.Arg708Lys)
c.2006G>A (p.Arg669Lys)
c.926G>A (p.Arg309Lys)
n.3153G>A
n.3051G>A
n.2464G>A
n.2362G>A
 dbSNP gnomAD v2 gnomAD v4
9g.114406376T>ACA374620054WHRNc.559A>T (p.Arg187Trp)
c.2215A>T (p.Arg739Trp)
c.1188A>T
n.2096A>T
c.1066A>T (p.Arg356Trp)
c.1162A>T (p.Arg388Trp)
c.1552A>T (p.Arg518Trp)
c.2248A>T (p.Arg750Trp)
c.2122A>T (p.Arg708Trp)
c.2005A>T (p.Arg669Trp)
c.925A>T (p.Arg309Trp)
n.3152A>T
n.3050A>T
n.2463A>T
n.2361A>T
9g.114406376T>CCA374620055WHRNc.559A>G (p.Arg187Gly)
c.2215A>G (p.Arg739Gly)
c.1188A>G
n.2096A>G
c.1066A>G (p.Arg356Gly)
c.1162A>G (p.Arg388Gly)
c.1552A>G (p.Arg518Gly)
c.2248A>G (p.Arg750Gly)
c.2122A>G (p.Arg708Gly)
c.2005A>G (p.Arg669Gly)
c.925A>G (p.Arg309Gly)
n.3152A>G
n.3050A>G
n.2463A>G
n.2361A>G
9g.114406376T>GCA466782052WHRNc.559A>C (p.Arg187=)
c.2215A>C (p.Arg739=)
c.1188A>C
n.2096A>C
c.1066A>C (p.Arg356=)
c.1162A>C (p.Arg388=)
c.1552A>C (p.Arg518=)
c.2248A>C (p.Arg750=)
c.2122A>C (p.Arg708=)
c.2005A>C (p.Arg669=)
c.925A>C (p.Arg309=)
n.3152A>C
n.3050A>C
n.2463A>C
n.2361A>C
9g.114406377C>ACA466782053WHRNc.558G>T (p.Val186=)
c.2214G>T (p.Val738=)
c.1187G>T
n.2095G>T
c.1065G>T (p.Val355=)
c.1161G>T (p.Val387=)
c.1551G>T (p.Val517=)
c.2247G>T (p.Val749=)
c.2121G>T (p.Val707=)
c.2004G>T (p.Val668=)
c.924G>T (p.Val308=)
n.3151G>T
n.3049G>T
n.2462G>T
n.2360G>T
 dbSNP
9g.114406377C=CA1873827060WHRNc.558G= (p.Val186=)
c.2214G= (p.Val738=)
c.1187G=
n.2095G=
c.1065G= (p.Val355=)
c.1161G= (p.Val387=)
c.1551G= (p.Val517=)
c.2247G= (p.Val749=)
c.2121G= (p.Val707=)
c.2004G= (p.Val668=)
c.924G= (p.Val308=)
n.3151G=
n.3049G=
n.2462G=
n.2360G=
9g.114406377C>GCA466782055WHRNc.558G>C (p.Val186=)
c.2214G>C (p.Val738=)
c.1187G>C
n.2095G>C
c.1065G>C (p.Val355=)
c.1161G>C (p.Val387=)
c.1551G>C (p.Val517=)
c.2247G>C (p.Val749=)
c.2121G>C (p.Val707=)
c.2004G>C (p.Val668=)
c.924G>C (p.Val308=)
n.3151G>C
n.3049G>C
n.2462G>C
n.2360G>C
9g.114406377C>TCA466782054WHRNc.558G>A (p.Val186=)
c.2214G>A (p.Val738=)
c.1187G>A
n.2095G>A
c.1065G>A (p.Val355=)
c.1161G>A (p.Val387=)
c.1551G>A (p.Val517=)
c.2247G>A (p.Val749=)
c.2121G>A (p.Val707=)
c.2004G>A (p.Val668=)
c.924G>A (p.Val308=)
n.3151G>A
n.3049G>A
n.2462G>A
n.2360G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114406378A>CCA374620056WHRNc.557T>G (p.Val186Gly)
c.2213T>G (p.Val738Gly)
c.1186T>G
n.2094T>G
c.1064T>G (p.Val355Gly)
c.1160T>G (p.Val387Gly)
c.1550T>G (p.Val517Gly)
c.2246T>G (p.Val749Gly)
c.2120T>G (p.Val707Gly)
c.2003T>G (p.Val668Gly)
c.923T>G (p.Val308Gly)
n.3150T>G
n.3048T>G
n.2461T>G
n.2359T>G
9g.114406378A>GCA374620057WHRNc.557T>C (p.Val186Ala)
c.2213T>C (p.Val738Ala)
c.1186T>C
n.2094T>C
c.1064T>C (p.Val355Ala)
c.1160T>C (p.Val387Ala)
c.1550T>C (p.Val517Ala)
c.2246T>C (p.Val749Ala)
c.2120T>C (p.Val707Ala)
c.2003T>C (p.Val668Ala)
c.923T>C (p.Val308Ala)
n.3150T>C
n.3048T>C
n.2461T>C
n.2359T>C
9g.114406378A>TCA374620058WHRNc.557T>A (p.Val186Glu)
c.2213T>A (p.Val738Glu)
c.1186T>A
n.2094T>A
c.1064T>A (p.Val355Glu)
c.1160T>A (p.Val387Glu)
c.1550T>A (p.Val517Glu)
c.2246T>A (p.Val749Glu)
c.2120T>A (p.Val707Glu)
c.2003T>A (p.Val668Glu)
c.923T>A (p.Val308Glu)
n.3150T>A
n.3048T>A
n.2461T>A
n.2359T>A
9g.114406379C>ACA374620059WHRNc.556G>T (p.Val186Leu)
c.2212G>T (p.Val738Leu)
c.1185G>T
n.2093G>T
c.1063G>T (p.Val355Leu)
c.1159G>T (p.Val387Leu)
c.1549G>T (p.Val517Leu)
c.2245G>T (p.Val749Leu)
c.2119G>T (p.Val707Leu)
c.2002G>T (p.Val668Leu)
c.922G>T (p.Val308Leu)
n.3149G>T
n.3047G>T
n.2460G>T
n.2358G>T
 dbSNP
9g.114406379C=CA1873827061WHRNc.556G= (p.Val186=)
c.2212G= (p.Val738=)
c.1185G=
n.2093G=
c.1063G= (p.Val355=)
c.1159G= (p.Val387=)
c.1549G= (p.Val517=)
c.2245G= (p.Val749=)
c.2119G= (p.Val707=)
c.2002G= (p.Val668=)
c.922G= (p.Val308=)
n.3149G=
n.3047G=
n.2460G=
n.2358G=
9g.114406379C>GCA374620060WHRNc.556G>C (p.Val186Leu)
c.2212G>C (p.Val738Leu)
c.1185G>C
n.2093G>C
c.1063G>C (p.Val355Leu)
c.1159G>C (p.Val387Leu)
c.1549G>C (p.Val517Leu)
c.2245G>C (p.Val749Leu)
c.2119G>C (p.Val707Leu)
c.2002G>C (p.Val668Leu)
c.922G>C (p.Val308Leu)
n.3149G>C
n.3047G>C
n.2460G>C
n.2358G>C
9g.114406379C>TCA374620061WHRNc.556G>A (p.Val186Met)
c.2212G>A (p.Val738Met)
c.1185G>A
n.2093G>A
c.1063G>A (p.Val355Met)
c.1159G>A (p.Val387Met)
c.1549G>A (p.Val517Met)
c.2245G>A (p.Val749Met)
c.2119G>A (p.Val707Met)
c.2002G>A (p.Val668Met)
c.922G>A (p.Val308Met)
n.3149G>A
n.3047G>A
n.2460G>A
n.2358G>A
 dbSNP gnomAD v3 gnomAD v4
9g.114406380T>ACA374620062WHRNc.555A>T (p.Glu185Asp)
c.2211A>T (p.Glu737Asp)
c.1184A>T
n.2092A>T
c.1062A>T (p.Glu354Asp)
c.1158A>T (p.Glu386Asp)
c.1548A>T (p.Glu516Asp)
c.2244A>T (p.Glu748Asp)
c.2118A>T (p.Glu706Asp)
c.2001A>T (p.Glu667Asp)
c.921A>T (p.Glu307Asp)
n.3148A>T
n.3046A>T
n.2459A>T
n.2357A>T
9g.114406380T>CCA466782056WHRNc.555A>G (p.Glu185=)
c.2211A>G (p.Glu737=)
c.1184A>G
n.2092A>G
c.1062A>G (p.Glu354=)
c.1158A>G (p.Glu386=)
c.1548A>G (p.Glu516=)
c.2244A>G (p.Glu748=)
c.2118A>G (p.Glu706=)
c.2001A>G (p.Glu667=)
c.921A>G (p.Glu307=)
n.3148A>G
n.3046A>G
n.2459A>G
n.2357A>G
 dbSNP gnomAD v3 gnomAD v4
9g.114406380T>GCA374620063WHRNc.555A>C (p.Glu185Asp)
c.2211A>C (p.Glu737Asp)
c.1184A>C
n.2092A>C
c.1062A>C (p.Glu354Asp)
c.1158A>C (p.Glu386Asp)
c.1548A>C (p.Glu516Asp)
c.2244A>C (p.Glu748Asp)
c.2118A>C (p.Glu706Asp)
c.2001A>C (p.Glu667Asp)
c.921A>C (p.Glu307Asp)
n.3148A>C
n.3046A>C
n.2459A>C
n.2357A>C
9g.114406380T=CA1873827062WHRNc.555A= (p.Glu185=)
c.2211A= (p.Glu737=)
c.1184A=
n.2092A=
c.1062A= (p.Glu354=)
c.1158A= (p.Glu386=)
c.1548A= (p.Glu516=)
c.2244A= (p.Glu748=)
c.2118A= (p.Glu706=)
c.2001A= (p.Glu667=)
c.921A= (p.Glu307=)
n.3148A=
n.3046A=
n.2459A=
n.2357A=
9g.114406381T>ACA374620064WHRNc.554A>T (p.Glu185Val)
c.2210A>T (p.Glu737Val)
c.1183A>T
n.2091A>T
c.1061A>T (p.Glu354Val)
c.1157A>T (p.Glu386Val)
c.1547A>T (p.Glu516Val)
c.2243A>T (p.Glu748Val)
c.2117A>T (p.Glu706Val)
c.2000A>T (p.Glu667Val)
c.920A>T (p.Glu307Val)
n.3147A>T
n.3045A>T
n.2458A>T
n.2356A>T
9g.114406381T>CCA374620065WHRNc.554A>G (p.Glu185Gly)
c.2210A>G (p.Glu737Gly)
c.1183A>G
n.2091A>G
c.1061A>G (p.Glu354Gly)
c.1157A>G (p.Glu386Gly)
c.1547A>G (p.Glu516Gly)
c.2243A>G (p.Glu748Gly)
c.2117A>G (p.Glu706Gly)
c.2000A>G (p.Glu667Gly)
c.920A>G (p.Glu307Gly)
n.3147A>G
n.3045A>G
n.2458A>G
n.2356A>G
9g.114406381T>GCA374620066WHRNc.554A>C (p.Glu185Ala)
c.2210A>C (p.Glu737Ala)
c.1183A>C
n.2091A>C
c.1061A>C (p.Glu354Ala)
c.1157A>C (p.Glu386Ala)
c.1547A>C (p.Glu516Ala)
c.2243A>C (p.Glu748Ala)
c.2117A>C (p.Glu706Ala)
c.2000A>C (p.Glu667Ala)
c.920A>C (p.Glu307Ala)
n.3147A>C
n.3045A>C
n.2458A>C
n.2356A>C
9g.114406382C>ACA374620069WHRNc.553G>T (p.Glu185Ter)
c.2209G>T (p.Glu737Ter)
c.1182G>T
n.2090G>T
c.1060G>T (p.Glu354Ter)
c.1156G>T (p.Glu386Ter)
c.1546G>T (p.Glu516Ter)
c.2242G>T (p.Glu748Ter)
c.2116G>T (p.Glu706Ter)
c.1999G>T (p.Glu667Ter)
c.919G>T (p.Glu307Ter)
n.3146G>T
n.3044G>T
n.2457G>T
n.2355G>T
9g.114406382C>GCA374620068WHRNc.553G>C (p.Glu185Gln)
c.2209G>C (p.Glu737Gln)
c.1182G>C
n.2090G>C
c.1060G>C (p.Glu354Gln)
c.1156G>C (p.Glu386Gln)
c.1546G>C (p.Glu516Gln)
c.2242G>C (p.Glu748Gln)
c.2116G>C (p.Glu706Gln)
c.1999G>C (p.Glu667Gln)
c.919G>C (p.Glu307Gln)
n.3146G>C
n.3044G>C
n.2457G>C
n.2355G>C
9g.114406382C>TCA374620067WHRNc.553G>A (p.Glu185Lys)
c.2209G>A (p.Glu737Lys)
c.1182G>A
n.2090G>A
c.1060G>A (p.Glu354Lys)
c.1156G>A (p.Glu386Lys)
c.1546G>A (p.Glu516Lys)
c.2242G>A (p.Glu748Lys)
c.2116G>A (p.Glu706Lys)
c.1999G>A (p.Glu667Lys)
c.919G>A (p.Glu307Lys)
n.3146G>A
n.3044G>A
n.2457G>A
n.2355G>A
9g.114406383A>CCA374620070WHRNc.552T>G (p.Asn184Lys)
c.2208T>G (p.Asn736Lys)
c.1181T>G
n.2089T>G
c.1059T>G (p.Asn353Lys)
c.1155T>G (p.Asn385Lys)
c.1545T>G (p.Asn515Lys)
c.2241T>G (p.Asn747Lys)
c.2115T>G (p.Asn705Lys)
c.1998T>G (p.Asn666Lys)
c.918T>G (p.Asn306Lys)
n.3145T>G
n.3043T>G
n.2456T>G
n.2354T>G
9g.114406383A>GCA466782058WHRNc.552T>C (p.Asn184=)
c.2208T>C (p.Asn736=)
c.1181T>C
n.2089T>C
c.1059T>C (p.Asn353=)
c.1155T>C (p.Asn385=)
c.1545T>C (p.Asn515=)
c.2241T>C (p.Asn747=)
c.2115T>C (p.Asn705=)
c.1998T>C (p.Asn666=)
c.918T>C (p.Asn306=)
n.3145T>C
n.3043T>C
n.2456T>C
n.2354T>C
 ClinVar dbSNP gnomAD v4
9g.114406383A>TCA374620071WHRNc.552T>A (p.Asn184Lys)
c.2208T>A (p.Asn736Lys)
c.1181T>A
n.2089T>A
c.1059T>A (p.Asn353Lys)
c.1155T>A (p.Asn385Lys)
c.1545T>A (p.Asn515Lys)
c.2241T>A (p.Asn747Lys)
c.2115T>A (p.Asn705Lys)
c.1998T>A (p.Asn666Lys)
c.918T>A (p.Asn306Lys)
n.3145T>A
n.3043T>A
n.2456T>A
n.2354T>A
9g.114406384T>ACA374620072WHRNc.551A>T (p.Asn184Ile)
c.2207A>T (p.Asn736Ile)
c.1180A>T
n.2088A>T
c.1058A>T (p.Asn353Ile)
c.1154A>T (p.Asn385Ile)
c.1544A>T (p.Asn515Ile)
c.2240A>T (p.Asn747Ile)
c.2114A>T (p.Asn705Ile)
c.1997A>T (p.Asn666Ile)
c.917A>T (p.Asn306Ile)
n.3144A>T
n.3042A>T
n.2455A>T
n.2353A>T
 gnomAD v4
9g.114406384T>CCA374620073WHRNc.551A>G (p.Asn184Ser)
c.2207A>G (p.Asn736Ser)
c.1180A>G
n.2088A>G
c.1058A>G (p.Asn353Ser)
c.1154A>G (p.Asn385Ser)
c.1544A>G (p.Asn515Ser)
c.2240A>G (p.Asn747Ser)
c.2114A>G (p.Asn705Ser)
c.1997A>G (p.Asn666Ser)
c.917A>G (p.Asn306Ser)
n.3144A>G
n.3042A>G
n.2455A>G
n.2353A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.114406384T>GCA374620074WHRNc.551A>C (p.Asn184Thr)
c.2207A>C (p.Asn736Thr)
c.1180A>C
n.2088A>C
c.1058A>C (p.Asn353Thr)
c.1154A>C (p.Asn385Thr)
c.1544A>C (p.Asn515Thr)
c.2240A>C (p.Asn747Thr)
c.2114A>C (p.Asn705Thr)
c.1997A>C (p.Asn666Thr)
c.917A>C (p.Asn306Thr)
n.3144A>C
n.3042A>C
n.2455A>C
n.2353A>C
9g.114406384T=CA1873827063WHRNc.551A= (p.Asn184=)
c.2207A= (p.Asn736=)
c.1180A=
n.2088A=
c.1058A= (p.Asn353=)
c.1154A= (p.Asn385=)
c.1544A= (p.Asn515=)
c.2240A= (p.Asn747=)
c.2114A= (p.Asn705=)
c.1997A= (p.Asn666=)
c.917A= (p.Asn306=)
n.3144A=
n.3042A=
n.2455A=
n.2353A=
9g.114406385T>ACA374620075WHRNc.550A>T (p.Asn184Tyr)
c.2206A>T (p.Asn736Tyr)
c.1179A>T
n.2087A>T
c.1057A>T (p.Asn353Tyr)
c.1153A>T (p.Asn385Tyr)
c.1543A>T (p.Asn515Tyr)
c.2239A>T (p.Asn747Tyr)
c.2113A>T (p.Asn705Tyr)
c.1996A>T (p.Asn666Tyr)
c.916A>T (p.Asn306Tyr)
n.3143A>T
n.3041A>T
n.2454A>T
n.2352A>T
9g.114406385T>CCA374620076WHRNc.550A>G (p.Asn184Asp)
c.2206A>G (p.Asn736Asp)
c.1179A>G
n.2087A>G
c.1057A>G (p.Asn353Asp)
c.1153A>G (p.Asn385Asp)
c.1543A>G (p.Asn515Asp)
c.2239A>G (p.Asn747Asp)
c.2113A>G (p.Asn705Asp)
c.1996A>G (p.Asn666Asp)
c.916A>G (p.Asn306Asp)
n.3143A>G
n.3041A>G
n.2454A>G
n.2352A>G
9g.114406385T>GCA374620077WHRNc.550A>C (p.Asn184His)
c.2206A>C (p.Asn736His)
c.1179A>C
n.2087A>C
c.1057A>C (p.Asn353His)
c.1153A>C (p.Asn385His)
c.1543A>C (p.Asn515His)
c.2239A>C (p.Asn747His)
c.2113A>C (p.Asn705His)
c.1996A>C (p.Asn666His)
c.916A>C (p.Asn306His)
n.3143A>C
n.3041A>C
n.2454A>C
n.2352A>C
9g.114406386G>ACA5205717WHRNc.549C>T (p.Val183=)
c.2205C>T (p.Val735=)
c.1178C>T
n.2086C>T
c.1056C>T (p.Val352=)
c.1152C>T (p.Val384=)
c.1542C>T (p.Val514=)
c.2238C>T (p.Val746=)
c.2112C>T (p.Val704=)
c.1995C>T (p.Val665=)
c.915C>T (p.Val305=)
n.3142C>T
n.3040C>T
n.2453C>T
n.2351C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114406386G>CCA466911358WHRNc.549C>G (p.Val183=)
c.2205C>G (p.Val735=)
c.1178C>G
n.2086C>G
c.1056C>G (p.Val352=)
c.1152C>G (p.Val384=)
c.1542C>G (p.Val514=)
c.2238C>G (p.Val746=)
c.2112C>G (p.Val704=)
c.1995C>G (p.Val665=)
c.915C>G (p.Val305=)
n.3142C>G
n.3040C>G
n.2453C>G
n.2351C>G
9g.114406386G=CA1873827064WHRNc.549C= (p.Val183=)
c.2205C= (p.Val735=)
c.1178C=
n.2086C=
c.1056C= (p.Val352=)
c.1152C= (p.Val384=)
c.1542C= (p.Val514=)
c.2238C= (p.Val746=)
c.2112C= (p.Val704=)
c.1995C= (p.Val665=)
c.915C= (p.Val305=)
n.3142C=
n.3040C=
n.2453C=
n.2351C=
9g.114406386G>TCA466911359WHRNc.549C>A (p.Val183=)
c.2205C>A (p.Val735=)
c.1178C>A
n.2086C>A
c.1056C>A (p.Val352=)
c.1152C>A (p.Val384=)
c.1542C>A (p.Val514=)
c.2238C>A (p.Val746=)
c.2112C>A (p.Val704=)
c.1995C>A (p.Val665=)
c.915C>A (p.Val305=)
n.3142C>A
n.3040C>A
n.2453C>A
n.2351C>A
9g.114406387A=CA1873827065WHRNc.548T= (p.Val183=)
c.2204T= (p.Val735=)
c.1177T=
n.2085T=
c.1055T= (p.Val352=)
c.1151T= (p.Val384=)
c.1541T= (p.Val514=)
c.2237T= (p.Val746=)
c.2111T= (p.Val704=)
c.1994T= (p.Val665=)
c.914T= (p.Val305=)
n.3141T=
n.3039T=
n.2452T=
n.2350T=
9g.114406387A>CCA374620078WHRNc.548T>G (p.Val183Gly)
c.2204T>G (p.Val735Gly)
c.1177T>G
n.2085T>G
c.1055T>G (p.Val352Gly)
c.1151T>G (p.Val384Gly)
c.1541T>G (p.Val514Gly)
c.2237T>G (p.Val746Gly)
c.2111T>G (p.Val704Gly)
c.1994T>G (p.Val665Gly)
c.914T>G (p.Val305Gly)
n.3141T>G
n.3039T>G
n.2452T>G
n.2350T>G
9g.114406387A>GCA374620079WHRNc.548T>C (p.Val183Ala)
c.2204T>C (p.Val735Ala)
c.1177T>C
n.2085T>C
c.1055T>C (p.Val352Ala)
c.1151T>C (p.Val384Ala)
c.1541T>C (p.Val514Ala)
c.2237T>C (p.Val746Ala)
c.2111T>C (p.Val704Ala)
c.1994T>C (p.Val665Ala)
c.914T>C (p.Val305Ala)
n.3141T>C
n.3039T>C
n.2452T>C
n.2350T>C
9g.114406387A>TCA374620080WHRNc.548T>A (p.Val183Asp)
c.2204T>A (p.Val735Asp)
c.1177T>A
n.2085T>A
c.1055T>A (p.Val352Asp)
c.1151T>A (p.Val384Asp)
c.1541T>A (p.Val514Asp)
c.2237T>A (p.Val746Asp)
c.2111T>A (p.Val704Asp)
c.1994T>A (p.Val665Asp)
c.914T>A (p.Val305Asp)
n.3141T>A
n.3039T>A
n.2452T>A
n.2350T>A
9g.114406388C>ACA374620081WHRNc.547G>T (p.Val183Phe)
c.2203G>T (p.Val735Phe)
c.1176G>T
n.2084G>T
c.1054G>T (p.Val352Phe)
c.1150G>T (p.Val384Phe)
c.1540G>T (p.Val514Phe)
c.2236G>T (p.Val746Phe)
c.2110G>T (p.Val704Phe)
c.1993G>T (p.Val665Phe)
c.913G>T (p.Val305Phe)
n.3140G>T
n.3038G>T
n.2451G>T
n.2349G>T
 gnomAD v4
9g.114406388C=CA1873827066WHRNc.547G= (p.Val183=)
c.2203G= (p.Val735=)
c.1176G=
n.2084G=
c.1054G= (p.Val352=)
c.1150G= (p.Val384=)
c.1540G= (p.Val514=)
c.2236G= (p.Val746=)
c.2110G= (p.Val704=)
c.1993G= (p.Val665=)
c.913G= (p.Val305=)
n.3140G=
n.3038G=
n.2451G=
n.2349G=
9g.114406388C>GCA374620082WHRNc.547G>C (p.Val183Leu)
c.2203G>C (p.Val735Leu)
c.1176G>C
n.2084G>C
c.1054G>C (p.Val352Leu)
c.1150G>C (p.Val384Leu)
c.1540G>C (p.Val514Leu)
c.2236G>C (p.Val746Leu)
c.2110G>C (p.Val704Leu)
c.1993G>C (p.Val665Leu)
c.913G>C (p.Val305Leu)
n.3140G>C
n.3038G>C
n.2451G>C
n.2349G>C
9g.114406388C>TCA248169WHRNc.547G>A (p.Val183Ile)
c.2203G>A (p.Val735Ile)
c.1176G>A
n.2084G>A
c.1054G>A (p.Val352Ile)
c.1150G>A (p.Val384Ile)
c.1540G>A (p.Val514Ile)
c.2236G>A (p.Val746Ile)
c.2110G>A (p.Val704Ile)
c.1993G>A (p.Val665Ile)
c.913G>A (p.Val305Ile)
n.3140G>A
n.3038G>A
n.2451G>A
n.2349G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114406388dupCA1128341209WHRNc.547dup (p.Val183GlyfsTer3)
c.2203dup (p.Val735GlyfsTer3)
c.1176dup
n.2084dup
c.1054dup (p.Val352GlyfsTer3)
c.1150dup (p.Val384GlyfsTer3)
c.1540dup (p.Val514GlyfsTer3)
c.2236dup (p.Val746GlyfsTer3)
c.2110dup (p.Val704GlyfsTer3)
c.1993dup (p.Val665GlyfsTer3)
c.913dup (p.Val305GlyfsTer3)
n.3140dup
n.3038dup
n.2451dup
n.2349dup
 dbSNP gnomAD v3 gnomAD v4
9g.114406389G>ACA5205718WHRNc.546C>T (p.Asp182=)
c.2202C>T (p.Asp734=)
c.1175C>T
n.2083C>T
c.1053C>T (p.Asp351=)
c.1149C>T (p.Asp383=)
c.1539C>T (p.Asp513=)
c.2235C>T (p.Asp745=)
c.2109C>T (p.Asp703=)
c.1992C>T (p.Asp664=)
c.912C>T (p.Asp304=)
n.3139C>T
n.3037C>T
n.2450C>T
n.2348C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114406389G>CCA374620083WHRNc.546C>G (p.Asp182Glu)
c.2202C>G (p.Asp734Glu)
c.1175C>G
n.2083C>G
c.1053C>G (p.Asp351Glu)
c.1149C>G (p.Asp383Glu)
c.1539C>G (p.Asp513Glu)
c.2235C>G (p.Asp745Glu)
c.2109C>G (p.Asp703Glu)
c.1992C>G (p.Asp664Glu)
c.912C>G (p.Asp304Glu)
n.3139C>G
n.3037C>G
n.2450C>G
n.2348C>G
9g.114406389G=CA1873827067WHRNc.546C= (p.Asp182=)
c.2202C= (p.Asp734=)
c.1175C=
n.2083C=
c.1053C= (p.Asp351=)
c.1149C= (p.Asp383=)
c.1539C= (p.Asp513=)
c.2235C= (p.Asp745=)
c.2109C= (p.Asp703=)
c.1992C= (p.Asp664=)
c.912C= (p.Asp304=)
n.3139C=
n.3037C=
n.2450C=
n.2348C=
9g.114406389G>TCA374620084WHRNc.546C>A (p.Asp182Glu)
c.2202C>A (p.Asp734Glu)
c.1175C>A
n.2083C>A
c.1053C>A (p.Asp351Glu)
c.1149C>A (p.Asp383Glu)
c.1539C>A (p.Asp513Glu)
c.2235C>A (p.Asp745Glu)
c.2109C>A (p.Asp703Glu)
c.1992C>A (p.Asp664Glu)
c.912C>A (p.Asp304Glu)
n.3139C>A
n.3037C>A
n.2450C>A
n.2348C>A
9g.114406390T>ACA374620085WHRNc.545A>T (p.Asp182Val)
c.2201A>T (p.Asp734Val)
c.1174A>T
n.2082A>T
c.1052A>T (p.Asp351Val)
c.1148A>T (p.Asp383Val)
c.1538A>T (p.Asp513Val)
c.2234A>T (p.Asp745Val)
c.2108A>T (p.Asp703Val)
c.1991A>T (p.Asp664Val)
c.911A>T (p.Asp304Val)
n.3138A>T
n.3036A>T
n.2449A>T
n.2347A>T
9g.114406390T>CCA374620086WHRNc.545A>G (p.Asp182Gly)
c.2201A>G (p.Asp734Gly)
c.1174A>G
n.2082A>G
c.1052A>G (p.Asp351Gly)
c.1148A>G (p.Asp383Gly)
c.1538A>G (p.Asp513Gly)
c.2234A>G (p.Asp745Gly)
c.2108A>G (p.Asp703Gly)
c.1991A>G (p.Asp664Gly)
c.911A>G (p.Asp304Gly)
n.3138A>G
n.3036A>G
n.2449A>G
n.2347A>G
9g.114406390T>GCA374620087WHRNc.545A>C (p.Asp182Ala)
c.2201A>C (p.Asp734Ala)
c.1174A>C
n.2082A>C
c.1052A>C (p.Asp351Ala)
c.1148A>C (p.Asp383Ala)
c.1538A>C (p.Asp513Ala)
c.2234A>C (p.Asp745Ala)
c.2108A>C (p.Asp703Ala)
c.1991A>C (p.Asp664Ala)
c.911A>C (p.Asp304Ala)
n.3138A>C
n.3036A>C
n.2449A>C
n.2347A>C
 gnomAD v4
9g.114406391C>ACA374620088WHRNc.544G>T (p.Asp182Tyr)
c.2200G>T (p.Asp734Tyr)
c.1173G>T
n.2081G>T
c.1051G>T (p.Asp351Tyr)
c.1147G>T (p.Asp383Tyr)
c.1537G>T (p.Asp513Tyr)
c.2233G>T (p.Asp745Tyr)
c.2107G>T (p.Asp703Tyr)
c.1990G>T (p.Asp664Tyr)
c.910G>T (p.Asp304Tyr)
n.3137G>T
n.3035G>T
n.2448G>T
n.2346G>T
9g.114406391C>GCA374620089WHRNc.544G>C (p.Asp182His)
c.2200G>C (p.Asp734His)
c.1173G>C
n.2081G>C
c.1051G>C (p.Asp351His)
c.1147G>C (p.Asp383His)
c.1537G>C (p.Asp513His)
c.2233G>C (p.Asp745His)
c.2107G>C (p.Asp703His)
c.1990G>C (p.Asp664His)
c.910G>C (p.Asp304His)
n.3137G>C
n.3035G>C
n.2448G>C
n.2346G>C
9g.114406391C>TCA374620090WHRNc.544G>A (p.Asp182Asn)
c.2200G>A (p.Asp734Asn)
c.1173G>A
n.2081G>A
c.1051G>A (p.Asp351Asn)
c.1147G>A (p.Asp383Asn)
c.1537G>A (p.Asp513Asn)
c.2233G>A (p.Asp745Asn)
c.2107G>A (p.Asp703Asn)
c.1990G>A (p.Asp664Asn)
c.910G>A (p.Asp304Asn)
n.3137G>A
n.3035G>A
n.2448G>A
n.2346G>A
 COSMIC COSMIC
9g.114406392T>ACA466911379WHRNc.543A>T (p.Pro181=)
c.2199A>T (p.Pro733=)
c.1172A>T
n.2080A>T
c.1050A>T (p.Pro350=)
c.1146A>T (p.Pro382=)
c.1536A>T (p.Pro512=)
c.2232A>T (p.Pro744=)
c.2106A>T (p.Pro702=)
c.1989A>T (p.Pro663=)
c.909A>T (p.Pro303=)
n.3136A>T
n.3034A>T
n.2447A>T
n.2345A>T
9g.114406392T>CCA466911380WHRNc.543A>G (p.Pro181=)
c.2199A>G (p.Pro733=)
c.1172A>G
n.2080A>G
c.1050A>G (p.Pro350=)
c.1146A>G (p.Pro382=)
c.1536A>G (p.Pro512=)
c.2232A>G (p.Pro744=)
c.2106A>G (p.Pro702=)
c.1989A>G (p.Pro663=)
c.909A>G (p.Pro303=)
n.3136A>G
n.3034A>G
n.2447A>G
n.2345A>G
9g.114406392T>GCA466911381WHRNc.543A>C (p.Pro181=)
c.2199A>C (p.Pro733=)
c.1172A>C
n.2080A>C
c.1050A>C (p.Pro350=)
c.1146A>C (p.Pro382=)
c.1536A>C (p.Pro512=)
c.2232A>C (p.Pro744=)
c.2106A>C (p.Pro702=)
c.1989A>C (p.Pro663=)
c.909A>C (p.Pro303=)
n.3136A>C
n.3034A>C
n.2447A>C
n.2345A>C
9g.114406393G>ACA374620091WHRNc.542C>T (p.Pro181Leu)
c.2198C>T (p.Pro733Leu)
c.1171C>T
n.2079C>T
c.1049C>T (p.Pro350Leu)
c.1145C>T (p.Pro382Leu)
c.1535C>T (p.Pro512Leu)
c.2231C>T (p.Pro744Leu)
c.2105C>T (p.Pro702Leu)
c.1988C>T (p.Pro663Leu)
c.908C>T (p.Pro303Leu)
n.3135C>T
n.3033C>T
n.2446C>T
n.2344C>T
9g.114406393G>CCA374620092WHRNc.542C>G (p.Pro181Arg)
c.2198C>G (p.Pro733Arg)
c.1171C>G
n.2079C>G
c.1049C>G (p.Pro350Arg)
c.1145C>G (p.Pro382Arg)
c.1535C>G (p.Pro512Arg)
c.2231C>G (p.Pro744Arg)
c.2105C>G (p.Pro702Arg)
c.1988C>G (p.Pro663Arg)
c.908C>G (p.Pro303Arg)
n.3135C>G
n.3033C>G
n.2446C>G
n.2344C>G
9g.114406393G>TCA374620093WHRNc.542C>A (p.Pro181Gln)
c.2198C>A (p.Pro733Gln)
c.1171C>A
n.2079C>A
c.1049C>A (p.Pro350Gln)
c.1145C>A (p.Pro382Gln)
c.1535C>A (p.Pro512Gln)
c.2231C>A (p.Pro744Gln)
c.2105C>A (p.Pro702Gln)
c.1988C>A (p.Pro663Gln)
c.908C>A (p.Pro303Gln)
n.3135C>A
n.3033C>A
n.2446C>A
n.2344C>A
9g.114406394G>ACA374620095WHRNc.541C>T (p.Pro181Ser)
c.2197C>T (p.Pro733Ser)
c.1170C>T
n.2078C>T
c.1048C>T (p.Pro350Ser)
c.1144C>T (p.Pro382Ser)
c.1534C>T (p.Pro512Ser)
c.2230C>T (p.Pro744Ser)
c.2104C>T (p.Pro702Ser)
c.1987C>T (p.Pro663Ser)
c.907C>T (p.Pro303Ser)
n.3134C>T
n.3032C>T
n.2445C>T
n.2343C>T
9g.114406394G>CCA374620096WHRNc.541C>G (p.Pro181Ala)
c.2197C>G (p.Pro733Ala)
c.1170C>G
n.2078C>G
c.1048C>G (p.Pro350Ala)
c.1144C>G (p.Pro382Ala)
c.1534C>G (p.Pro512Ala)
c.2230C>G (p.Pro744Ala)
c.2104C>G (p.Pro702Ala)
c.1987C>G (p.Pro663Ala)
c.907C>G (p.Pro303Ala)
n.3134C>G
n.3032C>G
n.2445C>G
n.2343C>G
9g.114406394G>TCA374620094WHRNc.541C>A (p.Pro181Thr)
c.2197C>A (p.Pro733Thr)
c.1170C>A
n.2078C>A
c.1048C>A (p.Pro350Thr)
c.1144C>A (p.Pro382Thr)
c.1534C>A (p.Pro512Thr)
c.2230C>A (p.Pro744Thr)
c.2104C>A (p.Pro702Thr)
c.1987C>A (p.Pro663Thr)
c.907C>A (p.Pro303Thr)
n.3134C>A
n.3032C>A
n.2445C>A
n.2343C>A
9g.114406395C>ACA374620097WHRNc.540G>T (p.Glu180Asp)
c.2196G>T (p.Glu732Asp)
c.1169G>T
n.2077G>T
c.1047G>T (p.Glu349Asp)
c.1143G>T (p.Glu381Asp)
c.1533G>T (p.Glu511Asp)
c.2229G>T (p.Glu743Asp)
c.2103G>T (p.Glu701Asp)
c.1986G>T (p.Glu662Asp)
c.906G>T (p.Glu302Asp)
n.3133G>T
n.3031G>T
n.2444G>T
n.2342G>T
9g.114406395C=CA1873827068WHRNc.540G= (p.Glu180=)
c.2196G= (p.Glu732=)
c.1169G=
n.2077G=
c.1047G= (p.Glu349=)
c.1143G= (p.Glu381=)
c.1533G= (p.Glu511=)
c.2229G= (p.Glu743=)
c.2103G= (p.Glu701=)
c.1986G= (p.Glu662=)
c.906G= (p.Glu302=)
n.3133G=
n.3031G=
n.2444G=
n.2342G=
9g.114406395C>GCA374620098WHRNc.540G>C (p.Glu180Asp)
c.2196G>C (p.Glu732Asp)
c.1169G>C
n.2077G>C
c.1047G>C (p.Glu349Asp)
c.1143G>C (p.Glu381Asp)
c.1533G>C (p.Glu511Asp)
c.2229G>C (p.Glu743Asp)
c.2103G>C (p.Glu701Asp)
c.1986G>C (p.Glu662Asp)
c.906G>C (p.Glu302Asp)
n.3133G>C
n.3031G>C
n.2444G>C
n.2342G>C
 dbSNP gnomAD v2 gnomAD v4
9g.114406395C>TCA466911390WHRNc.540G>A (p.Glu180=)
c.2196G>A (p.Glu732=)
c.1169G>A
n.2077G>A
c.1047G>A (p.Glu349=)
c.1143G>A (p.Glu381=)
c.1533G>A (p.Glu511=)
c.2229G>A (p.Glu743=)
c.2103G>A (p.Glu701=)
c.1986G>A (p.Glu662=)
c.906G>A (p.Glu302=)
n.3133G>A
n.3031G>A
n.2444G>A
n.2342G>A
9g.114406396T>ACA374620099WHRNc.539A>T (p.Glu180Val)
c.2195A>T (p.Glu732Val)
c.1168A>T
n.2076A>T
c.1046A>T (p.Glu349Val)
c.1142A>T (p.Glu381Val)
c.1532A>T (p.Glu511Val)
c.2228A>T (p.Glu743Val)
c.2102A>T (p.Glu701Val)
c.1985A>T (p.Glu662Val)
c.905A>T (p.Glu302Val)
n.3132A>T
n.3030A>T
n.2443A>T
n.2341A>T
9g.114406396T>CCA5205719WHRNc.539A>G (p.Glu180Gly)
c.2195A>G (p.Glu732Gly)
c.1168A>G
n.2076A>G
c.1046A>G (p.Glu349Gly)
c.1142A>G (p.Glu381Gly)
c.1532A>G (p.Glu511Gly)
c.2228A>G (p.Glu743Gly)
c.2102A>G (p.Glu701Gly)
c.1985A>G (p.Glu662Gly)
c.905A>G (p.Glu302Gly)
n.3132A>G
n.3030A>G
n.2443A>G
n.2341A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114406396T>GCA374620100WHRNc.539A>C (p.Glu180Ala)
c.2195A>C (p.Glu732Ala)
c.1168A>C
n.2076A>C
c.1046A>C (p.Glu349Ala)
c.1142A>C (p.Glu381Ala)
c.1532A>C (p.Glu511Ala)
c.2228A>C (p.Glu743Ala)
c.2102A>C (p.Glu701Ala)
c.1985A>C (p.Glu662Ala)
c.905A>C (p.Glu302Ala)
n.3132A>C
n.3030A>C
n.2443A>C
n.2341A>C
9g.114406396T=CA1873827069WHRNc.539A= (p.Glu180=)
c.2195A= (p.Glu732=)
c.1168A=
n.2076A=
c.1046A= (p.Glu349=)
c.1142A= (p.Glu381=)
c.1532A= (p.Glu511=)
c.2228A= (p.Glu743=)
c.2102A= (p.Glu701=)
c.1985A= (p.Glu662=)
c.905A= (p.Glu302=)
n.3132A=
n.3030A=
n.2443A=
n.2341A=
9g.114406397C>ACA374620101WHRNc.538G>T (p.Glu180Ter)
c.2194G>T (p.Glu732Ter)
c.1167G>T
n.2075G>T
c.1045G>T (p.Glu349Ter)
c.1141G>T (p.Glu381Ter)
c.1531G>T (p.Glu511Ter)
c.2227G>T (p.Glu743Ter)
c.2101G>T (p.Glu701Ter)
c.1984G>T (p.Glu662Ter)
c.904G>T (p.Glu302Ter)
n.3131G>T
n.3029G>T
n.2442G>T
n.2340G>T
9g.114406397C=CA1873827070WHRNc.538G= (p.Glu180=)
c.2194G= (p.Glu732=)
c.1167G=
n.2075G=
c.1045G= (p.Glu349=)
c.1141G= (p.Glu381=)
c.1531G= (p.Glu511=)
c.2227G= (p.Glu743=)
c.2101G= (p.Glu701=)
c.1984G= (p.Glu662=)
c.904G= (p.Glu302=)
n.3131G=
n.3029G=
n.2442G=
n.2340G=
9g.114406397C>GCA198649857WHRNc.538G>C (p.Glu180Gln)
c.2194G>C (p.Glu732Gln)
c.1167G>C
n.2075G>C
c.1045G>C (p.Glu349Gln)
c.1141G>C (p.Glu381Gln)
c.1531G>C (p.Glu511Gln)
c.2227G>C (p.Glu743Gln)
c.2101G>C (p.Glu701Gln)
c.1984G>C (p.Glu662Gln)
c.904G>C (p.Glu302Gln)
n.3131G>C
n.3029G>C
n.2442G>C
n.2340G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114406397C>TCA5205720WHRNc.538G>A (p.Glu180Lys)
c.2194G>A (p.Glu732Lys)
c.1167G>A
n.2075G>A
c.1045G>A (p.Glu349Lys)
c.1141G>A (p.Glu381Lys)
c.1531G>A (p.Glu511Lys)
c.2227G>A (p.Glu743Lys)
c.2101G>A (p.Glu701Lys)
c.1984G>A (p.Glu662Lys)
c.904G>A (p.Glu302Lys)
n.3131G>A
n.3029G>A
n.2442G>A
n.2340G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114406398G>ACA5205721WHRNc.537C>T (p.Ser179=)
c.2193C>T (p.Ser731=)
c.1166C>T
n.2074C>T
c.1044C>T (p.Ser348=)
c.1140C>T (p.Ser380=)
c.1530C>T (p.Ser510=)
c.2226C>T (p.Ser742=)
c.2100C>T (p.Ser700=)
c.1983C>T (p.Ser661=)
c.903C>T (p.Ser301=)
n.3130C>T
n.3028C>T
n.2441C>T
n.2339C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114406398G>CCA374620102WHRNc.537C>G (p.Ser179Arg)
c.2193C>G (p.Ser731Arg)
c.1166C>G
n.2074C>G
c.1044C>G (p.Ser348Arg)
c.1140C>G (p.Ser380Arg)
c.1530C>G (p.Ser510Arg)
c.2226C>G (p.Ser742Arg)
c.2100C>G (p.Ser700Arg)
c.1983C>G (p.Ser661Arg)
c.903C>G (p.Ser301Arg)
n.3130C>G
n.3028C>G
n.2441C>G
n.2339C>G
9g.114406398G=CA1873827071WHRNc.537C= (p.Ser179=)
c.2193C= (p.Ser731=)
c.1166C=
n.2074C=
c.1044C= (p.Ser348=)
c.1140C= (p.Ser380=)
c.1530C= (p.Ser510=)
c.2226C= (p.Ser742=)
c.2100C= (p.Ser700=)
c.1983C= (p.Ser661=)
c.903C= (p.Ser301=)
n.3130C=
n.3028C=
n.2441C=
n.2339C=
9g.114406398G>TCA374620103WHRNc.537C>A (p.Ser179Arg)
c.2193C>A (p.Ser731Arg)
c.1166C>A
n.2074C>A
c.1044C>A (p.Ser348Arg)
c.1140C>A (p.Ser380Arg)
c.1530C>A (p.Ser510Arg)
c.2226C>A (p.Ser742Arg)
c.2100C>A (p.Ser700Arg)
c.1983C>A (p.Ser661Arg)
c.903C>A (p.Ser301Arg)
n.3130C>A
n.3028C>A
n.2441C>A
n.2339C>A
 COSMIC COSMIC
9g.114406399C>ACA374620104WHRNc.536G>T (p.Ser179Ile)
c.2192G>T (p.Ser731Ile)
c.1165G>T
n.2073G>T
c.1043G>T (p.Ser348Ile)
c.1139G>T (p.Ser380Ile)
c.1529G>T (p.Ser510Ile)
c.2225G>T (p.Ser742Ile)
c.2099G>T (p.Ser700Ile)
c.1982G>T (p.Ser661Ile)
c.902G>T (p.Ser301Ile)
n.3129G>T
n.3027G>T
n.2440G>T
n.2338G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114406399C=CA1873827072WHRNc.536G= (p.Ser179=)
c.2192G= (p.Ser731=)
c.1165G=
n.2073G=
c.1043G= (p.Ser348=)
c.1139G= (p.Ser380=)
c.1529G= (p.Ser510=)
c.2225G= (p.Ser742=)
c.2099G= (p.Ser700=)
c.1982G= (p.Ser661=)
c.902G= (p.Ser301=)
n.3129G=
n.3027G=
n.2440G=
n.2338G=
9g.114406399C>GCA374620105WHRNc.536G>C (p.Ser179Thr)
c.2192G>C (p.Ser731Thr)
c.1165G>C
n.2073G>C
c.1043G>C (p.Ser348Thr)
c.1139G>C (p.Ser380Thr)
c.1529G>C (p.Ser510Thr)
c.2225G>C (p.Ser742Thr)
c.2099G>C (p.Ser700Thr)
c.1982G>C (p.Ser661Thr)
c.902G>C (p.Ser301Thr)
n.3129G>C
n.3027G>C
n.2440G>C
n.2338G>C
9g.114406399C>TCA374620106WHRNc.536G>A (p.Ser179Asn)
c.2192G>A (p.Ser731Asn)
c.1165G>A
n.2073G>A
c.1043G>A (p.Ser348Asn)
c.1139G>A (p.Ser380Asn)
c.1529G>A (p.Ser510Asn)
c.2225G>A (p.Ser742Asn)
c.2099G>A (p.Ser700Asn)
c.1982G>A (p.Ser661Asn)
c.902G>A (p.Ser301Asn)
n.3129G>A
n.3027G>A
n.2440G>A
n.2338G>A
9g.114406400T>ACA374620109WHRNc.535A>T (p.Ser179Cys)
c.2191A>T (p.Ser731Cys)
c.1164A>T
n.2072A>T
c.1042A>T (p.Ser348Cys)
c.1138A>T (p.Ser380Cys)
c.1528A>T (p.Ser510Cys)
c.2224A>T (p.Ser742Cys)
c.2098A>T (p.Ser700Cys)
c.1981A>T (p.Ser661Cys)
c.901A>T (p.Ser301Cys)
n.3128A>T
n.3026A>T
n.2439A>T
n.2337A>T
9g.114406400T>CCA374620108WHRNc.535A>G (p.Ser179Gly)
c.2191A>G (p.Ser731Gly)
c.1164A>G
n.2072A>G
c.1042A>G (p.Ser348Gly)
c.1138A>G (p.Ser380Gly)
c.1528A>G (p.Ser510Gly)
c.2224A>G (p.Ser742Gly)
c.2098A>G (p.Ser700Gly)
c.1981A>G (p.Ser661Gly)
c.901A>G (p.Ser301Gly)
n.3128A>G
n.3026A>G
n.2439A>G
n.2337A>G
9g.114406400T>GCA374620107WHRNc.535A>C (p.Ser179Arg)
c.2191A>C (p.Ser731Arg)
c.1164A>C
n.2072A>C
c.1042A>C (p.Ser348Arg)
c.1138A>C (p.Ser380Arg)
c.1528A>C (p.Ser510Arg)
c.2224A>C (p.Ser742Arg)
c.2098A>C (p.Ser700Arg)
c.1981A>C (p.Ser661Arg)
c.901A>C (p.Ser301Arg)
n.3128A>C
n.3026A>C
n.2439A>C
n.2337A>C
9g.114406401G>ACA5205722WHRNc.534C>T (p.Asp178=)
c.2190C>T (p.Asp730=)
c.1163C>T
n.2071C>T
c.1041C>T (p.Asp347=)
c.1137C>T (p.Asp379=)
c.1527C>T (p.Asp509=)
c.2223C>T (p.Asp741=)
c.2097C>T (p.Asp699=)
c.1980C>T (p.Asp660=)
c.900C>T (p.Asp300=)
n.3127C>T
n.3025C>T
n.2438C>T
n.2336C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114406401G>CCA374620110WHRNc.534C>G (p.Asp178Glu)
c.2190C>G (p.Asp730Glu)
c.1163C>G
n.2071C>G
c.1041C>G (p.Asp347Glu)
c.1137C>G (p.Asp379Glu)
c.1527C>G (p.Asp509Glu)
c.2223C>G (p.Asp741Glu)
c.2097C>G (p.Asp699Glu)
c.1980C>G (p.Asp660Glu)
c.900C>G (p.Asp300Glu)
n.3127C>G
n.3025C>G
n.2438C>G
n.2336C>G
 gnomAD v4
9g.114406401G=CA1873827073WHRNc.534C= (p.Asp178=)
c.2190C= (p.Asp730=)
c.1163C=
n.2071C=
c.1041C= (p.Asp347=)
c.1137C= (p.Asp379=)
c.1527C= (p.Asp509=)
c.2223C= (p.Asp741=)
c.2097C= (p.Asp699=)
c.1980C= (p.Asp660=)
c.900C= (p.Asp300=)
n.3127C=
n.3025C=
n.2438C=
n.2336C=
9g.114406401G>TCA374620111WHRNc.534C>A (p.Asp178Glu)
c.2190C>A (p.Asp730Glu)
c.1163C>A
n.2071C>A
c.1041C>A (p.Asp347Glu)
c.1137C>A (p.Asp379Glu)
c.1527C>A (p.Asp509Glu)
c.2223C>A (p.Asp741Glu)
c.2097C>A (p.Asp699Glu)
c.1980C>A (p.Asp660Glu)
c.900C>A (p.Asp300Glu)
n.3127C>A
n.3025C>A
n.2438C>A
n.2336C>A
9g.114406402T>ACA374620112WHRNc.533A>T (p.Asp178Val)
c.2189A>T (p.Asp730Val)
c.1162A>T
n.2070A>T
c.1040A>T (p.Asp347Val)
c.1136A>T (p.Asp379Val)
c.1526A>T (p.Asp509Val)
c.2222A>T (p.Asp741Val)
c.2096A>T (p.Asp699Val)
c.1979A>T (p.Asp660Val)
c.899A>T (p.Asp300Val)
n.3126A>T
n.3024A>T
n.2437A>T
n.2335A>T
9g.114406402T>CCA5205723WHRNc.533A>G (p.Asp178Gly)
c.2189A>G (p.Asp730Gly)
c.1162A>G
n.2070A>G
c.1040A>G (p.Asp347Gly)
c.1136A>G (p.Asp379Gly)
c.1526A>G (p.Asp509Gly)
c.2222A>G (p.Asp741Gly)
c.2096A>G (p.Asp699Gly)
c.1979A>G (p.Asp660Gly)
c.899A>G (p.Asp300Gly)
n.3126A>G
n.3024A>G
n.2437A>G
n.2335A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.114406402T>GCA374620113WHRNc.533A>C (p.Asp178Ala)
c.2189A>C (p.Asp730Ala)
c.1162A>C
n.2070A>C
c.1040A>C (p.Asp347Ala)
c.1136A>C (p.Asp379Ala)
c.1526A>C (p.Asp509Ala)
c.2222A>C (p.Asp741Ala)
c.2096A>C (p.Asp699Ala)
c.1979A>C (p.Asp660Ala)
c.899A>C (p.Asp300Ala)
n.3126A>C
n.3024A>C
n.2437A>C
n.2335A>C
9g.114406402T=CA1873827074WHRNc.533A= (p.Asp178=)
c.2189A= (p.Asp730=)
c.1162A=
n.2070A=
c.1040A= (p.Asp347=)
c.1136A= (p.Asp379=)
c.1526A= (p.Asp509=)
c.2222A= (p.Asp741=)
c.2096A= (p.Asp699=)
c.1979A= (p.Asp660=)
c.899A= (p.Asp300=)
n.3126A=
n.3024A=
n.2437A=
n.2335A=
9g.114406403C>ACA374620114WHRNc.532G>T (p.Asp178Tyr)
c.2188G>T (p.Asp730Tyr)
c.1161G>T
n.2069G>T
c.1039G>T (p.Asp347Tyr)
c.1135G>T (p.Asp379Tyr)
c.1525G>T (p.Asp509Tyr)
c.2221G>T (p.Asp741Tyr)
c.2095G>T (p.Asp699Tyr)
c.1978G>T (p.Asp660Tyr)
c.898G>T (p.Asp300Tyr)
n.3125G>T
n.3023G>T
n.2436G>T
n.2334G>T
 gnomAD v4
9g.114406403C=CA1873827075WHRNc.532G= (p.Asp178=)
c.2188G= (p.Asp730=)
c.1161G=
n.2069G=
c.1039G= (p.Asp347=)
c.1135G= (p.Asp379=)
c.1525G= (p.Asp509=)
c.2221G= (p.Asp741=)
c.2095G= (p.Asp699=)
c.1978G= (p.Asp660=)
c.898G= (p.Asp300=)
n.3125G=
n.3023G=
n.2436G=
n.2334G=
9g.114406403C>GCA374620115WHRNc.532G>C (p.Asp178His)
c.2188G>C (p.Asp730His)
c.1161G>C
n.2069G>C
c.1039G>C (p.Asp347His)
c.1135G>C (p.Asp379His)
c.1525G>C (p.Asp509His)
c.2221G>C (p.Asp741His)
c.2095G>C (p.Asp699His)
c.1978G>C (p.Asp660His)
c.898G>C (p.Asp300His)
n.3125G>C
n.3023G>C
n.2436G>C
n.2334G>C
 gnomAD v4
9g.114406403C>TCA5205724WHRNc.532G>A (p.Asp178Asn)
c.2188G>A (p.Asp730Asn)
c.1161G>A
n.2069G>A
c.1039G>A (p.Asp347Asn)
c.1135G>A (p.Asp379Asn)
c.1525G>A (p.Asp509Asn)
c.2221G>A (p.Asp741Asn)
c.2095G>A (p.Asp699Asn)
c.1978G>A (p.Asp660Asn)
c.898G>A (p.Asp300Asn)
n.3125G>A
n.3023G>A
n.2436G>A
n.2334G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114406403_114406404delinsCGCA1873827076WHRNc.531_532delinsCG (p.Pro177=)
c.2187_2188delinsCG (p.Pro729=)
c.1160_1161delinsCG
n.2068_2069delinsCG
c.1038_1039delinsCG (p.Pro346=)
c.1134_1135delinsCG (p.Pro378=)
c.1524_1525delinsCG (p.Pro508=)
c.2220_2221delinsCG (p.Pro740=)
c.2094_2095delinsCG (p.Pro698=)
c.1977_1978delinsCG (p.Pro659=)
c.897_898delinsCG (p.Pro299=)
n.3124_3125delinsCG
n.3022_3023delinsCG
n.2435_2436delinsCG
n.2333_2334delinsCG
9g.114406404G>ACA5205725WHRNc.531C>T (p.Pro177=)
c.2187C>T (p.Pro729=)
c.1160C>T
n.2068C>T
c.1038C>T (p.Pro346=)
c.1134C>T (p.Pro378=)
c.1524C>T (p.Pro508=)
c.2220C>T (p.Pro740=)
c.2094C>T (p.Pro698=)
c.1977C>T (p.Pro659=)
c.897C>T (p.Pro299=)
n.3124C>T
n.3022C>T
n.2435C>T
n.2333C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114406404G>CCA466911419WHRNc.531C>G (p.Pro177=)
c.2187C>G (p.Pro729=)
c.1160C>G
n.2068C>G
c.1038C>G (p.Pro346=)
c.1134C>G (p.Pro378=)
c.1524C>G (p.Pro508=)
c.2220C>G (p.Pro740=)
c.2094C>G (p.Pro698=)
c.1977C>G (p.Pro659=)
c.897C>G (p.Pro299=)
n.3124C>G
n.3022C>G
n.2435C>G
n.2333C>G
 gnomAD v4
9g.114406404G=CA1873827077WHRNc.531C= (p.Pro177=)
c.2187C= (p.Pro729=)
c.1160C=
n.2068C=
c.1038C= (p.Pro346=)
c.1134C= (p.Pro378=)
c.1524C= (p.Pro508=)
c.2220C= (p.Pro740=)
c.2094C= (p.Pro698=)
c.1977C= (p.Pro659=)
c.897C= (p.Pro299=)
n.3124C=
n.3022C=
n.2435C=
n.2333C=
9g.114406404G>TCA466911418WHRNc.531C>A (p.Pro177=)
c.2187C>A (p.Pro729=)
c.1160C>A
n.2068C>A
c.1038C>A (p.Pro346=)
c.1134C>A (p.Pro378=)
c.1524C>A (p.Pro508=)
c.2220C>A (p.Pro740=)
c.2094C>A (p.Pro698=)
c.1977C>A (p.Pro659=)
c.897C>A (p.Pro299=)
n.3124C>A
n.3022C>A
n.2435C>A
n.2333C>A
9g.114406407delCA1139661140WHRNc.531del (p.Asp178ThrfsTer9)
c.2187del (p.Asp730ThrfsTer9)
c.1160del
n.2068del
c.1038del (p.Asp347ThrfsTer9)
c.1134del (p.Asp379ThrfsTer9)
c.1524del (p.Asp509ThrfsTer9)
c.2220del (p.Asp741ThrfsTer9)
c.2094del (p.Asp699ThrfsTer9)
c.1977del (p.Asp660ThrfsTer9)
c.897del (p.Asp300ThrfsTer9)
n.3124del
n.3022del
n.2435del
n.2333del
 ClinVar dbSNP
9g.114406405G>ACA374620116WHRNc.530C>T (p.Pro177Leu)
c.2186C>T (p.Pro729Leu)
c.1159C>T
n.2067C>T
c.1037C>T (p.Pro346Leu)
c.1133C>T (p.Pro378Leu)
c.1523C>T (p.Pro508Leu)
c.2219C>T (p.Pro740Leu)
c.2093C>T (p.Pro698Leu)
c.1976C>T (p.Pro659Leu)
c.896C>T (p.Pro299Leu)
n.3123C>T
n.3021C>T
n.2434C>T
n.2332C>T
9g.114406405G>CCA374620117WHRNc.530C>G (p.Pro177Arg)
c.2186C>G (p.Pro729Arg)
c.1159C>G
n.2067C>G
c.1037C>G (p.Pro346Arg)
c.1133C>G (p.Pro378Arg)
c.1523C>G (p.Pro508Arg)
c.2219C>G (p.Pro740Arg)
c.2093C>G (p.Pro698Arg)
c.1976C>G (p.Pro659Arg)
c.896C>G (p.Pro299Arg)
n.3123C>G
n.3021C>G
n.2434C>G
n.2332C>G
9g.114406405G>TCA374620118WHRNc.530C>A (p.Pro177His)
c.2186C>A (p.Pro729His)
c.1159C>A
n.2067C>A
c.1037C>A (p.Pro346His)
c.1133C>A (p.Pro378His)
c.1523C>A (p.Pro508His)
c.2219C>A (p.Pro740His)
c.2093C>A (p.Pro698His)
c.1976C>A (p.Pro659His)
c.896C>A (p.Pro299His)
n.3123C>A
n.3021C>A
n.2434C>A
n.2332C>A
9g.114406406G>ACA374620119WHRNc.529C>T (p.Pro177Ser)
c.2185C>T (p.Pro729Ser)
c.1158C>T
n.2066C>T
c.1036C>T (p.Pro346Ser)
c.1132C>T (p.Pro378Ser)
c.1522C>T (p.Pro508Ser)
c.2218C>T (p.Pro740Ser)
c.2092C>T (p.Pro698Ser)
c.1975C>T (p.Pro659Ser)
c.895C>T (p.Pro299Ser)
n.3122C>T
n.3020C>T
n.2433C>T
n.2331C>T
9g.114406406G>CCA374620120WHRNc.529C>G (p.Pro177Ala)
c.2185C>G (p.Pro729Ala)
c.1158C>G
n.2066C>G
c.1036C>G (p.Pro346Ala)
c.1132C>G (p.Pro378Ala)
c.1522C>G (p.Pro508Ala)
c.2218C>G (p.Pro740Ala)
c.2092C>G (p.Pro698Ala)
c.1975C>G (p.Pro659Ala)
c.895C>G (p.Pro299Ala)
n.3122C>G
n.3020C>G
n.2433C>G
n.2331C>G
9g.114406406G>TCA374620121WHRNc.529C>A (p.Pro177Thr)
c.2185C>A (p.Pro729Thr)
c.1158C>A
n.2066C>A
c.1036C>A (p.Pro346Thr)
c.1132C>A (p.Pro378Thr)
c.1522C>A (p.Pro508Thr)
c.2218C>A (p.Pro740Thr)
c.2092C>A (p.Pro698Thr)
c.1975C>A (p.Pro659Thr)
c.895C>A (p.Pro299Thr)
n.3122C>A
n.3020C>A
n.2433C>A
n.2331C>A
9g.114406407G>ACA466911424WHRNc.528C>T (p.Arg176=)
c.2184C>T (p.Arg728=)
c.1157C>T
n.2065C>T
c.1035C>T (p.Arg345=)
c.1131C>T (p.Arg377=)
c.1521C>T (p.Arg507=)
c.2217C>T (p.Arg739=)
c.2091C>T (p.Arg697=)
c.1974C>T (p.Arg658=)
c.894C>T (p.Arg298=)
n.3121C>T
n.3019C>T
n.2432C>T
n.2330C>T
9g.114406407G>CCA466911427WHRNc.528C>G (p.Arg176=)
c.2184C>G (p.Arg728=)
c.1157C>G
n.2065C>G
c.1035C>G (p.Arg345=)
c.1131C>G (p.Arg377=)
c.1521C>G (p.Arg507=)
c.2217C>G (p.Arg739=)
c.2091C>G (p.Arg697=)
c.1974C>G (p.Arg658=)
c.894C>G (p.Arg298=)
n.3121C>G
n.3019C>G
n.2432C>G
n.2330C>G
9g.114406407G>TCA466911430WHRNc.528C>A (p.Arg176=)
c.2184C>A (p.Arg728=)
c.1157C>A
n.2065C>A
c.1035C>A (p.Arg345=)
c.1131C>A (p.Arg377=)
c.1521C>A (p.Arg507=)
c.2217C>A (p.Arg739=)
c.2091C>A (p.Arg697=)
c.1974C>A (p.Arg658=)
c.894C>A (p.Arg298=)
n.3121C>A
n.3019C>A
n.2432C>A
n.2330C>A
9g.114406408C>ACA374620123WHRNc.527G>T (p.Arg176Leu)
c.2183G>T (p.Arg728Leu)
c.1156G>T
n.2064G>T
c.1034G>T (p.Arg345Leu)
c.1130G>T (p.Arg377Leu)
c.1520G>T (p.Arg507Leu)
c.2216G>T (p.Arg739Leu)
c.2090G>T (p.Arg697Leu)
c.1973G>T (p.Arg658Leu)
c.893G>T (p.Arg298Leu)
n.3120G>T
n.3018G>T
n.2431G>T
n.2329G>T
9g.114406408C=CA1873827078WHRNc.527G= (p.Arg176=)
c.2183G= (p.Arg728=)
c.1156G=
n.2064G=
c.1034G= (p.Arg345=)
c.1130G= (p.Arg377=)
c.1520G= (p.Arg507=)
c.2216G= (p.Arg739=)
c.2090G= (p.Arg697=)
c.1973G= (p.Arg658=)
c.893G= (p.Arg298=)
n.3120G=
n.3018G=
n.2431G=
n.2329G=
9g.114406408C>GCA374620122WHRNc.527G>C (p.Arg176Pro)
c.2183G>C (p.Arg728Pro)
c.1156G>C
n.2064G>C
c.1034G>C (p.Arg345Pro)
c.1130G>C (p.Arg377Pro)
c.1520G>C (p.Arg507Pro)
c.2216G>C (p.Arg739Pro)
c.2090G>C (p.Arg697Pro)
c.1973G>C (p.Arg658Pro)
c.893G>C (p.Arg298Pro)
n.3120G>C
n.3018G>C
n.2431G>C
n.2329G>C
9g.114406408C>TCA223187WHRNc.527G>A (p.Arg176His)
c.2183G>A (p.Arg728His)
c.1156G>A
n.2064G>A
c.1034G>A (p.Arg345His)
c.1130G>A (p.Arg377His)
c.1520G>A (p.Arg507His)
c.2216G>A (p.Arg739His)
c.2090G>A (p.Arg697His)
c.1973G>A (p.Arg658His)
c.893G>A (p.Arg298His)
n.3120G>A
n.3018G>A
n.2431G>A
n.2329G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.114406409G>ACA5205726WHRNc.526C>T (p.Arg176Cys)
c.2182C>T (p.Arg728Cys)
c.1155C>T
n.2063C>T
c.1033C>T (p.Arg345Cys)
c.1129C>T (p.Arg377Cys)
c.1519C>T (p.Arg507Cys)
c.2215C>T (p.Arg739Cys)
c.2089C>T (p.Arg697Cys)
c.1972C>T (p.Arg658Cys)
c.892C>T (p.Arg298Cys)
n.3119C>T
n.3017C>T
n.2430C>T
n.2328C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114406409G>CCA374620124WHRNc.526C>G (p.Arg176Gly)
c.2182C>G (p.Arg728Gly)
c.1155C>G
n.2063C>G
c.1033C>G (p.Arg345Gly)
c.1129C>G (p.Arg377Gly)
c.1519C>G (p.Arg507Gly)
c.2215C>G (p.Arg739Gly)
c.2089C>G (p.Arg697Gly)
c.1972C>G (p.Arg658Gly)
c.892C>G (p.Arg298Gly)
n.3119C>G
n.3017C>G
n.2430C>G
n.2328C>G
9g.114406409G=CA1873827079WHRNc.526C= (p.Arg176=)
c.2182C= (p.Arg728=)
c.1155C=
n.2063C=
c.1033C= (p.Arg345=)
c.1129C= (p.Arg377=)
c.1519C= (p.Arg507=)
c.2215C= (p.Arg739=)
c.2089C= (p.Arg697=)
c.1972C= (p.Arg658=)
c.892C= (p.Arg298=)
n.3119C=
n.3017C=
n.2430C=
n.2328C=
9g.114406409G>TCA374620125WHRNc.526C>A (p.Arg176Ser)
c.2182C>A (p.Arg728Ser)
c.1155C>A
n.2063C>A
c.1033C>A (p.Arg345Ser)
c.1129C>A (p.Arg377Ser)
c.1519C>A (p.Arg507Ser)
c.2215C>A (p.Arg739Ser)
c.2089C>A (p.Arg697Ser)
c.1972C>A (p.Arg658Ser)
c.892C>A (p.Arg298Ser)
n.3119C>A
n.3017C>A
n.2430C>A
n.2328C>A
9g.114406410G>ACA466911435WHRNc.525C>T (p.His175=)
c.2181C>T (p.His727=)
c.1154C>T
n.2062C>T
c.1032C>T (p.His344=)
c.1128C>T (p.His376=)
c.1518C>T (p.His506=)
c.2214C>T (p.His738=)
c.2088C>T (p.His696=)
c.1971C>T (p.His657=)
c.891C>T (p.His297=)
n.3118C>T
n.3016C>T
n.2429C>T
n.2327C>T
9g.114406410G>CCA374620126WHRNc.525C>G (p.His175Gln)
c.2181C>G (p.His727Gln)
c.1154C>G
n.2062C>G
c.1032C>G (p.His344Gln)
c.1128C>G (p.His376Gln)
c.1518C>G (p.His506Gln)
c.2214C>G (p.His738Gln)
c.2088C>G (p.His696Gln)
c.1971C>G (p.His657Gln)
c.891C>G (p.His297Gln)
n.3118C>G
n.3016C>G
n.2429C>G
n.2327C>G
 gnomAD v4
9g.114406410G>TCA374620127WHRNc.525C>A (p.His175Gln)
c.2181C>A (p.His727Gln)
c.1154C>A
n.2062C>A
c.1032C>A (p.His344Gln)
c.1128C>A (p.His376Gln)
c.1518C>A (p.His506Gln)
c.2214C>A (p.His738Gln)
c.2088C>A (p.His696Gln)
c.1971C>A (p.His657Gln)
c.891C>A (p.His297Gln)
n.3118C>A
n.3016C>A
n.2429C>A
n.2327C>A
9g.114406411T>ACA374620128WHRNc.524A>T (p.His175Leu)
c.2180A>T (p.His727Leu)
c.1153A>T
n.2061A>T
c.1031A>T (p.His344Leu)
c.1127A>T (p.His376Leu)
c.1517A>T (p.His506Leu)
c.2213A>T (p.His738Leu)
c.2087A>T (p.His696Leu)
c.1970A>T (p.His657Leu)
c.890A>T (p.His297Leu)
n.3117A>T
n.3015A>T
n.2428A>T
n.2326A>T
9g.114406411T>CCA374620129WHRNc.524A>G (p.His175Arg)
c.2180A>G (p.His727Arg)
c.1153A>G
n.2061A>G
c.1031A>G (p.His344Arg)
c.1127A>G (p.His376Arg)
c.1517A>G (p.His506Arg)
c.2213A>G (p.His738Arg)
c.2087A>G (p.His696Arg)
c.1970A>G (p.His657Arg)
c.890A>G (p.His297Arg)
n.3117A>G
n.3015A>G
n.2428A>G
n.2326A>G
9g.114406411T>GCA374620130WHRNc.524A>C (p.His175Pro)
c.2180A>C (p.His727Pro)
c.1153A>C
n.2061A>C
c.1031A>C (p.His344Pro)
c.1127A>C (p.His376Pro)
c.1517A>C (p.His506Pro)
c.2213A>C (p.His738Pro)
c.2087A>C (p.His696Pro)
c.1970A>C (p.His657Pro)
c.890A>C (p.His297Pro)
n.3117A>C
n.3015A>C
n.2428A>C
n.2326A>C
 dbSNP
9g.114406411T=CA1873827080WHRNc.524A= (p.His175=)
c.2180A= (p.His727=)
c.1153A=
n.2061A=
c.1031A= (p.His344=)
c.1127A= (p.His376=)
c.1517A= (p.His506=)
c.2213A= (p.His738=)
c.2087A= (p.His696=)
c.1970A= (p.His657=)
c.890A= (p.His297=)
n.3117A=
n.3015A=
n.2428A=
n.2326A=
9g.114406412G>ACA198649882WHRNc.523C>T (p.His175Tyr)
c.2179C>T (p.His727Tyr)
c.1152C>T
n.2060C>T
c.1030C>T (p.His344Tyr)
c.1126C>T (p.His376Tyr)
c.1516C>T (p.His506Tyr)
c.2212C>T (p.His738Tyr)
c.2086C>T (p.His696Tyr)
c.1969C>T (p.His657Tyr)
c.889C>T (p.His297Tyr)
n.3116C>T
n.3014C>T
n.2427C>T
n.2325C>T
 dbSNP gnomAD v3 gnomAD v4
9g.114406412G>CCA374620131WHRNc.523C>G (p.His175Asp)
c.2179C>G (p.His727Asp)
c.1152C>G
n.2060C>G
c.1030C>G (p.His344Asp)
c.1126C>G (p.His376Asp)
c.1516C>G (p.His506Asp)
c.2212C>G (p.His738Asp)
c.2086C>G (p.His696Asp)
c.1969C>G (p.His657Asp)
c.889C>G (p.His297Asp)
n.3116C>G
n.3014C>G
n.2427C>G
n.2325C>G
 gnomAD v4
9g.114406412G=CA1873827081WHRNc.523C= (p.His175=)
c.2179C= (p.His727=)
c.1152C=
n.2060C=
c.1030C= (p.His344=)
c.1126C= (p.His376=)
c.1516C= (p.His506=)
c.2212C= (p.His738=)
c.2086C= (p.His696=)
c.1969C= (p.His657=)
c.889C= (p.His297=)
n.3116C=
n.3014C=
n.2427C=
n.2325C=
9g.114406412G>TCA374620132WHRNc.523C>A (p.His175Asn)
c.2179C>A (p.His727Asn)
c.1152C>A
n.2060C>A
c.1030C>A (p.His344Asn)
c.1126C>A (p.His376Asn)
c.1516C>A (p.His506Asn)
c.2212C>A (p.His738Asn)
c.2086C>A (p.His696Asn)
c.1969C>A (p.His657Asn)
c.889C>A (p.His297Asn)
n.3116C>A
n.3014C>A
n.2427C>A
n.2325C>A
9g.114406413G>ACA466911445WHRNc.522C>T (p.Val174=)
c.2178C>T (p.Val726=)
c.1151C>T
n.2059C>T
c.1029C>T (p.Val343=)
c.1125C>T (p.Val375=)
c.1515C>T (p.Val505=)
c.2211C>T (p.Val737=)
c.2085C>T (p.Val695=)
c.1968C>T (p.Val656=)
c.888C>T (p.Val296=)
n.3115C>T
n.3013C>T
n.2426C>T
n.2324C>T
9g.114406413G>CCA466911447WHRNc.522C>G (p.Val174=)
c.2178C>G (p.Val726=)
c.1151C>G
n.2059C>G
c.1029C>G (p.Val343=)
c.1125C>G (p.Val375=)
c.1515C>G (p.Val505=)
c.2211C>G (p.Val737=)
c.2085C>G (p.Val695=)
c.1968C>G (p.Val656=)
c.888C>G (p.Val296=)
n.3115C>G
n.3013C>G
n.2426C>G
n.2324C>G
9g.114406413G>TCA466911449WHRNc.522C>A (p.Val174=)
c.2178C>A (p.Val726=)
c.1151C>A
n.2059C>A
c.1029C>A (p.Val343=)
c.1125C>A (p.Val375=)
c.1515C>A (p.Val505=)
c.2211C>A (p.Val737=)
c.2085C>A (p.Val695=)
c.1968C>A (p.Val656=)
c.888C>A (p.Val296=)
n.3115C>A
n.3013C>A
n.2426C>A
n.2324C>A
9g.114406414A>CCA374620133WHRNc.521T>G (p.Val174Gly)
c.2177T>G (p.Val726Gly)
c.1150T>G
n.2058T>G
c.1028T>G (p.Val343Gly)
c.1124T>G (p.Val375Gly)
c.1514T>G (p.Val505Gly)
c.2210T>G (p.Val737Gly)
c.2084T>G (p.Val695Gly)
c.1967T>G (p.Val656Gly)
c.887T>G (p.Val296Gly)
n.3114T>G
n.3012T>G
n.2425T>G
n.2323T>G
 gnomAD v4
9g.114406414A>GCA374620134WHRNc.521T>C (p.Val174Ala)
c.2177T>C (p.Val726Ala)
c.1150T>C
n.2058T>C
c.1028T>C (p.Val343Ala)
c.1124T>C (p.Val375Ala)
c.1514T>C (p.Val505Ala)
c.2210T>C (p.Val737Ala)
c.2084T>C (p.Val695Ala)
c.1967T>C (p.Val656Ala)
c.887T>C (p.Val296Ala)
n.3114T>C
n.3012T>C
n.2425T>C
n.2323T>C
9g.114406414A>TCA374620135WHRNc.521T>A (p.Val174Asp)
c.2177T>A (p.Val726Asp)
c.1150T>A
n.2058T>A
c.1028T>A (p.Val343Asp)
c.1124T>A (p.Val375Asp)
c.1514T>A (p.Val505Asp)
c.2210T>A (p.Val737Asp)
c.2084T>A (p.Val695Asp)
c.1967T>A (p.Val656Asp)
c.887T>A (p.Val296Asp)
n.3114T>A
n.3012T>A
n.2425T>A
n.2323T>A
9g.114406415C>ACA374620137WHRNc.520G>T (p.Val174Phe)
c.2176G>T (p.Val726Phe)
c.1149G>T
n.2057G>T
c.1027G>T (p.Val343Phe)
c.1123G>T (p.Val375Phe)
c.1513G>T (p.Val505Phe)
c.2209G>T (p.Val737Phe)
c.2083G>T (p.Val695Phe)
c.1966G>T (p.Val656Phe)
c.886G>T (p.Val296Phe)
n.3113G>T
n.3011G>T
n.2424G>T
n.2322G>T
9g.114406415C>GCA374620138WHRNc.520G>C (p.Val174Leu)
c.2176G>C (p.Val726Leu)
c.1149G>C
n.2057G>C
c.1027G>C (p.Val343Leu)
c.1123G>C (p.Val375Leu)
c.1513G>C (p.Val505Leu)
c.2209G>C (p.Val737Leu)
c.2083G>C (p.Val695Leu)
c.1966G>C (p.Val656Leu)
c.886G>C (p.Val296Leu)
n.3113G>C
n.3011G>C
n.2424G>C
n.2322G>C
9g.114406415C>TCA374620136WHRNc.520G>A (p.Val174Ile)
c.2176G>A (p.Val726Ile)
c.1149G>A
n.2057G>A
c.1027G>A (p.Val343Ile)
c.1123G>A (p.Val375Ile)
c.1513G>A (p.Val505Ile)
c.2209G>A (p.Val737Ile)
c.2083G>A (p.Val695Ile)
c.1966G>A (p.Val656Ile)
c.886G>A (p.Val296Ile)
n.3113G>A
n.3011G>A
n.2424G>A
n.2322G>A
 COSMIC COSMIC
9g.114406416C>ACA5205727WHRNc.519G>T (p.Glu173Asp)
c.2175G>T (p.Glu725Asp)
c.1148G>T
n.2056G>T
c.1026G>T (p.Glu342Asp)
c.1122G>T (p.Glu374Asp)
c.1512G>T (p.Glu504Asp)
c.2208G>T (p.Glu736Asp)
c.2082G>T (p.Glu694Asp)
c.1965G>T (p.Glu655Asp)
c.885G>T (p.Glu295Asp)
n.3112G>T
n.3010G>T
n.2423G>T
n.2321G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114406416C=CA1873827082WHRNc.519G= (p.Glu173=)
c.2175G= (p.Glu725=)
c.1148G=
n.2056G=
c.1026G= (p.Glu342=)
c.1122G= (p.Glu374=)
c.1512G= (p.Glu504=)
c.2208G= (p.Glu736=)
c.2082G= (p.Glu694=)
c.1965G= (p.Glu655=)
c.885G= (p.Glu295=)
n.3112G=
n.3010G=
n.2423G=
n.2321G=
9g.114406416C>GCA374620139WHRNc.519G>C (p.Glu173Asp)
c.2175G>C (p.Glu725Asp)
c.1148G>C
n.2056G>C
c.1026G>C (p.Glu342Asp)
c.1122G>C (p.Glu374Asp)
c.1512G>C (p.Glu504Asp)
c.2208G>C (p.Glu736Asp)
c.2082G>C (p.Glu694Asp)
c.1965G>C (p.Glu655Asp)
c.885G>C (p.Glu295Asp)
n.3112G>C
n.3010G>C
n.2423G>C
n.2321G>C
9g.114406416C>TCA466911458WHRNc.519G>A (p.Glu173=)
c.2175G>A (p.Glu725=)
c.1148G>A
n.2056G>A
c.1026G>A (p.Glu342=)
c.1122G>A (p.Glu374=)
c.1512G>A (p.Glu504=)
c.2208G>A (p.Glu736=)
c.2082G>A (p.Glu694=)
c.1965G>A (p.Glu655=)
c.885G>A (p.Glu295=)
n.3112G>A
n.3010G>A
n.2423G>A
n.2321G>A
 gnomAD v4
9g.114406417T>ACA374620140WHRNc.518A>T (p.Glu173Val)
c.2174A>T (p.Glu725Val)
c.1147A>T
n.2055A>T
c.1025A>T (p.Glu342Val)
c.1121A>T (p.Glu374Val)
c.1511A>T (p.Glu504Val)
c.2207A>T (p.Glu736Val)
c.2081A>T (p.Glu694Val)
c.1964A>T (p.Glu655Val)
c.884A>T (p.Glu295Val)
n.3111A>T
n.3009A>T
n.2422A>T
n.2320A>T
9g.114406417T>CCA374620141WHRNc.518A>G (p.Glu173Gly)
c.2174A>G (p.Glu725Gly)
c.1147A>G
n.2055A>G
c.1025A>G (p.Glu342Gly)
c.1121A>G (p.Glu374Gly)
c.1511A>G (p.Glu504Gly)
c.2207A>G (p.Glu736Gly)
c.2081A>G (p.Glu694Gly)
c.1964A>G (p.Glu655Gly)
c.884A>G (p.Glu295Gly)
n.3111A>G
n.3009A>G
n.2422A>G
n.2320A>G
9g.114406417T>GCA374620142WHRNc.518A>C (p.Glu173Ala)
c.2174A>C (p.Glu725Ala)
c.1147A>C
n.2055A>C
c.1025A>C (p.Glu342Ala)
c.1121A>C (p.Glu374Ala)
c.1511A>C (p.Glu504Ala)
c.2207A>C (p.Glu736Ala)
c.2081A>C (p.Glu694Ala)
c.1964A>C (p.Glu655Ala)
c.884A>C (p.Glu295Ala)
n.3111A>C
n.3009A>C
n.2422A>C
n.2320A>C
 gnomAD v4
9g.114406418C>ACA374620143WHRNc.517G>T (p.Glu173Ter)
c.2173G>T (p.Glu725Ter)
c.1146G>T
n.2054G>T
c.1024G>T (p.Glu342Ter)
c.1120G>T (p.Glu374Ter)
c.1510G>T (p.Glu504Ter)
c.2206G>T (p.Glu736Ter)
c.2080G>T (p.Glu694Ter)
c.1963G>T (p.Glu655Ter)
c.883G>T (p.Glu295Ter)
n.3110G>T
n.3008G>T
n.2421G>T
n.2319G>T
9g.114406418C=CA1873827083WHRNc.517G= (p.Glu173=)
c.2173G= (p.Glu725=)
c.1146G=
n.2054G=
c.1024G= (p.Glu342=)
c.1120G= (p.Glu374=)
c.1510G= (p.Glu504=)
c.2206G= (p.Glu736=)
c.2080G= (p.Glu694=)
c.1963G= (p.Glu655=)
c.883G= (p.Glu295=)
n.3110G=
n.3008G=
n.2421G=
n.2319G=
9g.114406418C>GCA10628846WHRNc.517G>C (p.Glu173Gln)
c.2173G>C (p.Glu725Gln)
c.1146G>C
n.2054G>C
c.1024G>C (p.Glu342Gln)
c.1120G>C (p.Glu374Gln)
c.1510G>C (p.Glu504Gln)
c.2206G>C (p.Glu736Gln)
c.2080G>C (p.Glu694Gln)
c.1963G>C (p.Glu655Gln)
c.883G>C (p.Glu295Gln)
n.3110G>C
n.3008G>C
n.2421G>C
n.2319G>C
 ClinVar dbSNP
9g.114406418C>TCA5205728WHRNc.517G>A (p.Glu173Lys)
c.2173G>A (p.Glu725Lys)
c.1146G>A
n.2054G>A
c.1024G>A (p.Glu342Lys)
c.1120G>A (p.Glu374Lys)
c.1510G>A (p.Glu504Lys)
c.2206G>A (p.Glu736Lys)
c.2080G>A (p.Glu694Lys)
c.1963G>A (p.Glu655Lys)
c.883G>A (p.Glu295Lys)
n.3110G>A
n.3008G>A
n.2421G>A
n.2319G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114406419C>ACA466911468WHRNc.516G>T (p.Val172=)
c.2172G>T (p.Val724=)
c.1145G>T
n.2053G>T
c.1023G>T (p.Val341=)
c.1119G>T (p.Val373=)
c.1509G>T (p.Val503=)
c.2205G>T (p.Val735=)
c.2079G>T (p.Val693=)
c.1962G>T (p.Val654=)
c.882G>T (p.Val294=)
n.3109G>T
n.3007G>T
n.2420G>T
n.2318G>T
9g.114406419C=CA1873827084WHRNc.516G= (p.Val172=)
c.2172G= (p.Val724=)
c.1145G=
n.2053G=
c.1023G= (p.Val341=)
c.1119G= (p.Val373=)
c.1509G= (p.Val503=)
c.2205G= (p.Val735=)
c.2079G= (p.Val693=)
c.1962G= (p.Val654=)
c.882G= (p.Val294=)
n.3109G=
n.3007G=
n.2420G=
n.2318G=
9g.114406419C>GCA466911469WHRNc.516G>C (p.Val172=)
c.2172G>C (p.Val724=)
c.1145G>C
n.2053G>C
c.1023G>C (p.Val341=)
c.1119G>C (p.Val373=)
c.1509G>C (p.Val503=)
c.2205G>C (p.Val735=)
c.2079G>C (p.Val693=)
c.1962G>C (p.Val654=)
c.882G>C (p.Val294=)
n.3109G>C
n.3007G>C
n.2420G>C
n.2318G>C
9g.114406419C>TCA466911470WHRNc.516G>A (p.Val172=)
c.2172G>A (p.Val724=)
c.1145G>A
n.2053G>A
c.1023G>A (p.Val341=)
c.1119G>A (p.Val373=)
c.1509G>A (p.Val503=)
c.2205G>A (p.Val735=)
c.2079G>A (p.Val693=)
c.1962G>A (p.Val654=)
c.882G>A (p.Val294=)
n.3109G>A
n.3007G>A
n.2420G>A
n.2318G>A
 dbSNP gnomAD v4
9g.114406420A>CCA374620144WHRNc.515T>G (p.Val172Gly)
c.2171T>G (p.Val724Gly)
c.1144T>G
n.2052T>G
c.1022T>G (p.Val341Gly)
c.1118T>G (p.Val373Gly)
c.1508T>G (p.Val503Gly)
c.2204T>G (p.Val735Gly)
c.2078T>G (p.Val693Gly)
c.1961T>G (p.Val654Gly)
c.881T>G (p.Val294Gly)
n.3108T>G
n.3006T>G
n.2419T>G
n.2317T>G
9g.114406420A>GCA374620145WHRNc.515T>C (p.Val172Ala)
c.2171T>C (p.Val724Ala)
c.1144T>C
n.2052T>C
c.1022T>C (p.Val341Ala)
c.1118T>C (p.Val373Ala)
c.1508T>C (p.Val503Ala)
c.2204T>C (p.Val735Ala)
c.2078T>C (p.Val693Ala)
c.1961T>C (p.Val654Ala)
c.881T>C (p.Val294Ala)
n.3108T>C
n.3006T>C
n.2419T>C
n.2317T>C
9g.114406420A>TCA374620146WHRNc.515T>A (p.Val172Glu)
c.2171T>A (p.Val724Glu)
c.1144T>A
n.2052T>A
c.1022T>A (p.Val341Glu)
c.1118T>A (p.Val373Glu)
c.1508T>A (p.Val503Glu)
c.2204T>A (p.Val735Glu)
c.2078T>A (p.Val693Glu)
c.1961T>A (p.Val654Glu)
c.881T>A (p.Val294Glu)
n.3108T>A
n.3006T>A
n.2419T>A
n.2317T>A
9g.114406421C>ACA374620149WHRNc.514G>T (p.Val172Leu)
c.2170G>T (p.Val724Leu)
c.1143G>T
n.2051G>T
c.1021G>T (p.Val341Leu)
c.1117G>T (p.Val373Leu)
c.1507G>T (p.Val503Leu)
c.2203G>T (p.Val735Leu)
c.2077G>T (p.Val693Leu)
c.1960G>T (p.Val654Leu)
c.880G>T (p.Val294Leu)
n.3107G>T
n.3005G>T
n.2418G>T
n.2316G>T
9g.114406421C>GCA374620148WHRNc.514G>C (p.Val172Leu)
c.2170G>C (p.Val724Leu)
c.1143G>C
n.2051G>C
c.1021G>C (p.Val341Leu)
c.1117G>C (p.Val373Leu)
c.1507G>C (p.Val503Leu)
c.2203G>C (p.Val735Leu)
c.2077G>C (p.Val693Leu)
c.1960G>C (p.Val654Leu)
c.880G>C (p.Val294Leu)
n.3107G>C
n.3005G>C
n.2418G>C
n.2316G>C
9g.114406421C>TCA374620147WHRNc.514G>A (p.Val172Met)
c.2170G>A (p.Val724Met)
c.1143G>A
n.2051G>A
c.1021G>A (p.Val341Met)
c.1117G>A (p.Val373Met)
c.1507G>A (p.Val503Met)
c.2203G>A (p.Val735Met)
c.2077G>A (p.Val693Met)
c.1960G>A (p.Val654Met)
c.880G>A (p.Val294Met)
n.3107G>A
n.3005G>A
n.2418G>A
n.2316G>A
9g.114406422C>ACA374620150WHRNc.513G>T (p.Met171Ile)
c.2169G>T (p.Met723Ile)
c.1142G>T
n.2050G>T
c.1020G>T (p.Met340Ile)
c.1116G>T (p.Met372Ile)
c.1506G>T (p.Met502Ile)
c.2202G>T (p.Met734Ile)
c.2076G>T (p.Met692Ile)
c.1959G>T (p.Met653Ile)
c.879G>T (p.Met293Ile)
n.3106G>T
n.3004G>T
n.2417G>T
n.2315G>T
9g.114406422C>GCA374620151WHRNc.513G>C (p.Met171Ile)
c.2169G>C (p.Met723Ile)
c.1142G>C
n.2050G>C
c.1020G>C (p.Met340Ile)
c.1116G>C (p.Met372Ile)
c.1506G>C (p.Met502Ile)
c.2202G>C (p.Met734Ile)
c.2076G>C (p.Met692Ile)
c.1959G>C (p.Met653Ile)
c.879G>C (p.Met293Ile)
n.3106G>C
n.3004G>C
n.2417G>C
n.2315G>C
9g.114406422C>TCA374620152WHRNc.513G>A (p.Met171Ile)
c.2169G>A (p.Met723Ile)
c.1142G>A
n.2050G>A
c.1020G>A (p.Met340Ile)
c.1116G>A (p.Met372Ile)
c.1506G>A (p.Met502Ile)
c.2202G>A (p.Met734Ile)
c.2076G>A (p.Met692Ile)
c.1959G>A (p.Met653Ile)
c.879G>A (p.Met293Ile)
n.3106G>A
n.3004G>A
n.2417G>A
n.2315G>A
9g.114406423A>CCA374620153WHRNc.512T>G (p.Met171Arg)
c.2168T>G (p.Met723Arg)
c.1141T>G
n.2049T>G
c.1019T>G (p.Met340Arg)
c.1115T>G (p.Met372Arg)
c.1505T>G (p.Met502Arg)
c.2201T>G (p.Met734Arg)
c.2075T>G (p.Met692Arg)
c.1958T>G (p.Met653Arg)
c.878T>G (p.Met293Arg)
n.3105T>G
n.3003T>G
n.2416T>G
n.2314T>G
9g.114406423A>GCA374620154WHRNc.512T>C (p.Met171Thr)
c.2168T>C (p.Met723Thr)
c.1141T>C
n.2049T>C
c.1019T>C (p.Met340Thr)
c.1115T>C (p.Met372Thr)
c.1505T>C (p.Met502Thr)
c.2201T>C (p.Met734Thr)
c.2075T>C (p.Met692Thr)
c.1958T>C (p.Met653Thr)
c.878T>C (p.Met293Thr)
n.3105T>C
n.3003T>C
n.2416T>C
n.2314T>C
9g.114406423A>TCA374620155WHRNc.512T>A (p.Met171Lys)
c.2168T>A (p.Met723Lys)
c.1141T>A
n.2049T>A
c.1019T>A (p.Met340Lys)
c.1115T>A (p.Met372Lys)
c.1505T>A (p.Met502Lys)
c.2201T>A (p.Met734Lys)
c.2075T>A (p.Met692Lys)
c.1958T>A (p.Met653Lys)
c.878T>A (p.Met293Lys)
n.3105T>A
n.3003T>A
n.2416T>A
n.2314T>A
9g.114406423_114406424insGGGAAAGCAAGGCA2691372601WHRNc.511_512insCCTTGCTTTCCC (p.Met171delinsThrLeuLeuSerLeu)
c.2167_2168insCCTTGCTTTCCC (p.Met723delinsThrLeuLeuSerLeu)
c.1140_1141insCCTTGCTTTCCC
n.2048_2049insCCTTGCTTTCCC
c.1018_1019insCCTTGCTTTCCC (p.Met340delinsThrLeuLeuSerLeu)
c.1114_1115insCCTTGCTTTCCC (p.Met372delinsThrLeuLeuSerLeu)
c.1504_1505insCCTTGCTTTCCC (p.Met502delinsThrLeuLeuSerLeu)
c.2200_2201insCCTTGCTTTCCC (p.Met734delinsThrLeuLeuSerLeu)
c.2074_2075insCCTTGCTTTCCC (p.Met692delinsThrLeuLeuSerLeu)
c.1957_1958insCCTTGCTTTCCC (p.Met653delinsThrLeuLeuSerLeu)
c.877_878insCCTTGCTTTCCC (p.Met293delinsThrLeuLeuSerLeu)
n.3104_3105insCCTTGCTTTCCC
n.3002_3003insCCTTGCTTTCCC
n.2415_2416insCCTTGCTTTCCC
n.2313_2314insCCTTGCTTTCCC
 gnomAD v4
9g.114406424T>ACA374620156WHRNc.511A>T (p.Met171Leu)
c.2167A>T (p.Met723Leu)
c.1140A>T
n.2048A>T
c.1018A>T (p.Met340Leu)
c.1114A>T (p.Met372Leu)
c.1504A>T (p.Met502Leu)
c.2200A>T (p.Met734Leu)
c.2074A>T (p.Met692Leu)
c.1957A>T (p.Met653Leu)
c.877A>T (p.Met293Leu)
n.3104A>T
n.3002A>T
n.2415A>T
n.2313A>T
9g.114406424T>CCA374620157WHRNc.511A>G (p.Met171Val)
c.2167A>G (p.Met723Val)
c.1140A>G
n.2048A>G
c.1018A>G (p.Met340Val)
c.1114A>G (p.Met372Val)
c.1504A>G (p.Met502Val)
c.2200A>G (p.Met734Val)
c.2074A>G (p.Met692Val)
c.1957A>G (p.Met653Val)
c.877A>G (p.Met293Val)
n.3104A>G
n.3002A>G
n.2415A>G
n.2313A>G
9g.114406424T>GCA374620158WHRNc.511A>C (p.Met171Leu)
c.2167A>C (p.Met723Leu)
c.1140A>C
n.2048A>C
c.1018A>C (p.Met340Leu)
c.1114A>C (p.Met372Leu)
c.1504A>C (p.Met502Leu)
c.2200A>C (p.Met734Leu)
c.2074A>C (p.Met692Leu)
c.1957A>C (p.Met653Leu)
c.877A>C (p.Met293Leu)
n.3104A>C
n.3002A>C
n.2415A>C
n.2313A>C
 gnomAD v4

Number of alleles fetched