Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.120650707_120650776del | CA2667172155 | HGD | c.434+3_434+72del c.311+3_311+72del c.65+3_65+72del c.11+3_11+72del | gnomAD v4 |
3 | g.120650738_120650795delinsGATGGGCATGTCCTTCCCTAGAACTGAGCCACTTACCTGTTCTCCATGGAGGTATTGC | CA1397098521 | HGD | c.413_434+36delinsGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCATC c.290_311+36delinsGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCATC c.44_65+36delinsGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCATC c.-11_11+36delinsGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCATC | |
3 | g.120650740_120650796del | CA545609526 | HGD | c.413_434+35del c.290_311+35del c.44_65+35del c.-11_11+35del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.120650773C>A | CA354077965 | HGD | c.434+1G>T (n.434+1G>T) c.311+1G>T (n.311+1G>T) c.65+1G>T (n.65+1G>T) c.11+1G>T (n.11+1G>T) | |
3 | g.120650773C>G | CA354077964 | HGD | c.434+1G>C (n.434+1G>C) c.311+1G>C (n.311+1G>C) c.65+1G>C (n.65+1G>C) c.11+1G>C (n.11+1G>C) | |
3 | g.120650773C>T | CA354077963 | HGD | c.434+1G>A (n.434+1G>A) c.311+1G>A (n.311+1G>A) c.65+1G>A (n.65+1G>A) c.11+1G>A (n.11+1G>A) | gnomAD v4 |
3 | g.120650774del | CA2580068607 | HGD | c.434+1del c.311+1del c.65+1del c.11+1del | ClinVar |
3 | g.120650774C>A | CA354077966 | HGD | c.434G>T (p.Arg145Ile) c.311G>T (p.Arg104Ile) c.65G>T (p.Arg22Ile) c.11G>T (p.Arg4Ile) | |
3 | g.120650774C>G | CA354077967 | HGD | c.434G>C (p.Arg145Thr) c.311G>C (p.Arg104Thr) c.65G>C (p.Arg22Thr) c.11G>C (p.Arg4Thr) | |
3 | g.120650774C>T | CA354077968 | HGD | c.434G>A (p.Arg145Lys) c.311G>A (p.Arg104Lys) c.65G>A (p.Arg22Lys) c.11G>A (p.Arg4Lys) | gnomAD v4 |
3 | g.120650775T>A | CA354077969 | HGD | c.433A>T (p.Arg145Ter) c.310A>T (p.Arg104Ter) c.64A>T (p.Arg22Ter) c.10A>T (p.Arg4Ter) | ClinVar |
3 | g.120650775T>C | CA354077970 | HGD | c.433A>G (p.Arg145Gly) c.310A>G (p.Arg104Gly) c.64A>G (p.Arg22Gly) c.10A>G (p.Arg4Gly) | |
3 | g.120650775T>G | CA435228330 | HGD | c.433A>C (p.Arg145=) c.310A>C (p.Arg104=) c.64A>C (p.Arg22=) c.10A>C (p.Arg4=) | |
3 | g.120650776G>A | CA435228331 | HGD | c.432C>T (p.Asn144=) c.309C>T (p.Asn103=) c.63C>T (p.Asn21=) c.9C>T (p.Asn3=) | |
3 | g.120650776G>C | CA354077971 | HGD | c.432C>G (p.Asn144Lys) c.309C>G (p.Asn103Lys) c.63C>G (p.Asn21Lys) c.9C>G (p.Asn3Lys) | |
3 | g.120650776G>T | CA354077972 | HGD | c.432C>A (p.Asn144Lys) c.309C>A (p.Asn103Lys) c.63C>A (p.Asn21Lys) c.9C>A (p.Asn3Lys) | |
3 | g.120650777T>A | CA354077973 | HGD | c.431A>T (p.Asn144Ile) c.308A>T (p.Asn103Ile) c.62A>T (p.Asn21Ile) c.8A>T (p.Asn3Ile) | |
3 | g.120650777T>C | CA354077974 | HGD | c.431A>G (p.Asn144Ser) c.308A>G (p.Asn103Ser) c.62A>G (p.Asn21Ser) c.8A>G (p.Asn3Ser) | |
3 | g.120650777T>G | CA354077975 | HGD | c.431A>C (p.Asn144Thr) c.308A>C (p.Asn103Thr) c.62A>C (p.Asn21Thr) c.8A>C (p.Asn3Thr) | |
3 | g.120650778T>A | CA354077976 | HGD | c.430A>T (p.Asn144Tyr) c.307A>T (p.Asn103Tyr) c.61A>T (p.Asn21Tyr) c.7A>T (p.Asn3Tyr) | |
3 | g.120650778T>C | CA354077977 | HGD | c.430A>G (p.Asn144Asp) c.307A>G (p.Asn103Asp) c.61A>G (p.Asn21Asp) c.7A>G (p.Asn3Asp) | |
3 | g.120650778T>G | CA354077978 | HGD | c.430A>C (p.Asn144His) c.307A>C (p.Asn103His) c.61A>C (p.Asn21His) c.7A>C (p.Asn3His) | |
3 | g.120650779C>A | CA354077979 | HGD | c.429G>T (p.Glu143Asp) c.306G>T (p.Glu102Asp) c.60G>T (p.Glu20Asp) c.6G>T (p.Glu2Asp) | |
3 | g.120650779C>G | CA354077980 | HGD | c.429G>C (p.Glu143Asp) c.306G>C (p.Glu102Asp) c.60G>C (p.Glu20Asp) c.6G>C (p.Glu2Asp) | |
3 | g.120650779C>T | CA435228332 | HGD | c.429G>A (p.Glu143=) c.306G>A (p.Glu102=) c.60G>A (p.Glu20=) c.6G>A (p.Glu2=) | gnomAD v4 |
3 | g.120650780T>A | CA354077981 | HGD | c.428A>T (p.Glu143Val) c.305A>T (p.Glu102Val) c.59A>T (p.Glu20Val) c.5A>T (p.Glu2Val) | |
3 | g.120650780T>C | CA354077983 | HGD | c.428A>G (p.Glu143Gly) c.305A>G (p.Glu102Gly) c.59A>G (p.Glu20Gly) c.5A>G (p.Glu2Gly) | |
3 | g.120650780T>G | CA354077982 | HGD | c.428A>C (p.Glu143Ala) c.305A>C (p.Glu102Ala) c.59A>C (p.Glu20Ala) c.5A>C (p.Glu2Ala) | |
3 | g.120650781C>A | CA354077984 | HGD | c.427G>T (p.Glu143Ter) c.304G>T (p.Glu102Ter) c.58G>T (p.Glu20Ter) c.4G>T (p.Glu2Ter) | |
3 | g.120650781C>G | CA354077985 | HGD | c.427G>C (p.Glu143Gln) c.304G>C (p.Glu102Gln) c.58G>C (p.Glu20Gln) c.4G>C (p.Glu2Gln) | |
3 | g.120650781C>T | CA354077986 | HGD | c.427G>A (p.Glu143Lys) c.304G>A (p.Glu102Lys) c.58G>A (p.Glu20Lys) c.4G>A (p.Glu2Lys) | |
3 | g.120650782C>A | CA354077987 | HGD | c.426G>T (p.Met142Ile) c.303G>T (p.Met101Ile) c.57G>T (p.Met19Ile) c.3G>T (p.Met1Ile) | |
3 | g.120650782C>G | CA354077988 | HGD | c.426G>C (p.Met142Ile) c.303G>C (p.Met101Ile) c.57G>C (p.Met19Ile) c.3G>C (p.Met1Ile) | |
3 | g.120650782C>T | CA354077989 | HGD | c.426G>A (p.Met142Ile) c.303G>A (p.Met101Ile) c.57G>A (p.Met19Ile) c.3G>A (p.Met1Ile) | |
3 | g.120650783A= | CA1397098543 | HGD | c.425T= (p.Met142=) c.302T= (p.Met101=) c.56T= (p.Met19=) c.2T= (p.Met1=) | |
3 | g.120650783A>C | CA354077990 | HGD | c.425T>G (p.Met142Arg) c.302T>G (p.Met101Arg) c.56T>G (p.Met19Arg) c.2T>G (p.Met1Arg) | |
3 | g.120650783A>G | CA2560216 | HGD | c.425T>C (p.Met142Thr) c.302T>C (p.Met101Thr) c.56T>C (p.Met19Thr) c.2T>C (p.Met1Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120650783A>T | CA354077991 | HGD | c.425T>A (p.Met142Lys) c.302T>A (p.Met101Lys) c.56T>A (p.Met19Lys) c.2T>A (p.Met1Lys) | |
3 | g.120650784T>A | CA354077992 | HGD | c.424A>T (p.Met142Leu) c.301A>T (p.Met101Leu) c.55A>T (p.Met19Leu) c.1A>T (p.Met1Leu) | |
3 | g.120650784T>C | CA354077993 | HGD | c.424A>G (p.Met142Val) c.301A>G (p.Met101Val) c.55A>G (p.Met19Val) c.1A>G (p.Met1Val) | gnomAD v4 |
3 | g.120650784T>G | CA354077994 | HGD | c.424A>C (p.Met142Leu) c.301A>C (p.Met101Leu) c.55A>C (p.Met19Leu) c.1A>C (p.Met1Leu) | |
3 | g.120650785G>A | CA435228333 | HGD | c.423C>T (p.Ser141=) c.300C>T (p.Ser100=) c.54C>T (p.Ser18=) c.-1C>T (n.-1C>T) | |
3 | g.120650785G>C | CA435228334 | HGD | c.423C>G (p.Ser141=) c.300C>G (p.Ser100=) c.54C>G (p.Ser18=) c.-1C>G (n.-1C>G) | |
3 | g.120650785G>T | CA435228335 | HGD | c.423C>A (p.Ser141=) c.300C>A (p.Ser100=) c.54C>A (p.Ser18=) c.-1C>A (n.-1C>A) | |
3 | g.120650786G>A | CA354077997 | HGD | c.422C>T (p.Ser141Phe) c.299C>T (p.Ser100Phe) c.53C>T (p.Ser18Phe) c.-2C>T (n.-2C>T) | |
3 | g.120650786G>C | CA354077995 | HGD | c.422C>G (p.Ser141Cys) c.299C>G (p.Ser100Cys) c.53C>G (p.Ser18Cys) c.-2C>G (n.-2C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120650786G= | CA1397098544 | HGD | c.422C= (p.Ser141=) c.299C= (p.Ser100=) c.53C= (p.Ser18=) c.-2C= (n.-2C=) | |
3 | g.120650786G>T | CA354077996 | HGD | c.422C>A (p.Ser141Tyr) c.299C>A (p.Ser100Tyr) c.53C>A (p.Ser18Tyr) c.-2C>A (n.-2C>A) | |
3 | g.120650787A>C | CA354077998 | HGD | c.421T>G (p.Ser141Ala) c.298T>G (p.Ser100Ala) c.52T>G (p.Ser18Ala) c.-3T>G (n.-3T>G) | |
3 | g.120650787A>G | CA354077999 | HGD | c.421T>C (p.Ser141Pro) c.298T>C (p.Ser100Pro) c.52T>C (p.Ser18Pro) c.-3T>C (n.-3T>C) | |
3 | g.120650787A>T | CA354078000 | HGD | c.421T>A (p.Ser141Thr) c.298T>A (p.Ser100Thr) c.52T>A (p.Ser18Thr) c.-3T>A (n.-3T>A) | |
3 | g.120650788G>A | CA435228337 | HGD | c.420C>T (p.Thr140=) c.297C>T (p.Thr99=) n.528C>T c.51C>T (p.Thr17=) c.-4C>T (n.-4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650788G>C | CA435228338 | HGD | c.420C>G (p.Thr140=) c.297C>G (p.Thr99=) n.528C>G c.51C>G (p.Thr17=) c.-4C>G (n.-4C>G) | |
3 | g.120650788G= | CA1397098545 | HGD | c.420C= (p.Thr140=) c.297C= (p.Thr99=) n.528C= c.51C= (p.Thr17=) c.-4C= (n.-4C=) | |
3 | g.120650788G>T | CA435228340 | HGD | c.420C>A (p.Thr140=) c.297C>A (p.Thr99=) n.528C>A c.51C>A (p.Thr17=) c.-4C>A (n.-4C>A) | |
3 | g.120650789G>A | CA354078001 | HGD | c.419C>T (p.Thr140Ile) c.296C>T (p.Thr99Ile) n.527C>T c.50C>T (p.Thr17Ile) c.-5C>T (n.-5C>T) | |
3 | g.120650789G>C | CA354078002 | HGD | c.419C>G (p.Thr140Ser) c.296C>G (p.Thr99Ser) n.527C>G c.50C>G (p.Thr17Ser) c.-5C>G (n.-5C>G) | |
3 | g.120650789G= | CA1397098546 | HGD | c.419C= (p.Thr140=) c.296C= (p.Thr99=) n.527C= c.50C= (p.Thr17=) c.-5C= (n.-5C=) | |
3 | g.120650789G>T | CA354078003 | HGD | c.419C>A (p.Thr140Asn) c.296C>A (p.Thr99Asn) n.527C>A c.50C>A (p.Thr17Asn) c.-5C>A (n.-5C>A) | dbSNP gnomAD v2 |
3 | g.120650790T>A | CA354078004 | HGD | c.418A>T (p.Thr140Ser) c.295A>T (p.Thr99Ser) n.526A>T c.49A>T (p.Thr17Ser) c.-6A>T (n.-6A>T) | |
3 | g.120650790T>C | CA354078005 | HGD | c.418A>G (p.Thr140Ala) c.295A>G (p.Thr99Ala) n.526A>G c.49A>G (p.Thr17Ala) c.-6A>G (n.-6A>G) | COSMIC |
3 | g.120650790T>G | CA354078006 | HGD | c.418A>C (p.Thr140Pro) c.295A>C (p.Thr99Pro) n.526A>C c.49A>C (p.Thr17Pro) c.-6A>C (n.-6A>C) | |
3 | g.120650791A>C | CA354078007 | HGD | c.417T>G (p.Asn139Lys) c.294T>G (p.Asn98Lys) n.525T>G c.48T>G (p.Asn16Lys) c.-7T>G (n.-7T>G) | |
3 | g.120650791A>G | CA435228343 | HGD | c.417T>C (p.Asn139=) c.294T>C (p.Asn98=) n.525T>C c.48T>C (p.Asn16=) c.-7T>C (n.-7T>C) | |
3 | g.120650791A>T | CA354078008 | HGD | c.417T>A (p.Asn139Lys) c.294T>A (p.Asn98Lys) n.525T>A c.48T>A (p.Asn16Lys) c.-7T>A (n.-7T>A) | |
3 | g.120650792T>A | CA354078010 | HGD | c.416A>T (p.Asn139Ile) c.293A>T (p.Asn98Ile) n.524A>T c.47A>T (p.Asn16Ile) c.-8A>T (n.-8A>T) | |
3 | g.120650792T>C | CA81789586 | HGD | c.416A>G (p.Asn139Ser) c.293A>G (p.Asn98Ser) n.524A>G c.47A>G (p.Asn16Ser) c.-8A>G (n.-8A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650792T>G | CA354078009 | HGD | c.416A>C (p.Asn139Thr) c.293A>C (p.Asn98Thr) n.524A>C c.47A>C (p.Asn16Thr) c.-8A>C (n.-8A>C) | |
3 | g.120650792T= | CA1397098547 | HGD | c.416A= (p.Asn139=) c.293A= (p.Asn98=) n.524A= c.47A= (p.Asn16=) c.-8A= (n.-8A=) | |
3 | g.120650793T>A | CA354078011 | HGD | c.415A>T (p.Asn139Tyr) c.292A>T (p.Asn98Tyr) n.523A>T c.46A>T (p.Asn16Tyr) c.-9A>T (n.-9A>T) | |
3 | g.120650793T>C | CA354078012 | HGD | c.415A>G (p.Asn139Asp) c.292A>G (p.Asn98Asp) n.523A>G c.46A>G (p.Asn16Asp) c.-9A>G (n.-9A>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120650793T>G | CA354078013 | HGD | c.415A>C (p.Asn139His) c.292A>C (p.Asn98His) n.523A>C c.46A>C (p.Asn16His) c.-9A>C (n.-9A>C) | |
3 | g.120650793T= | CA1397098548 | HGD | c.415A= (p.Asn139=) c.292A= (p.Asn98=) n.523A= c.46A= (p.Asn16=) c.-9A= (n.-9A=) | |
3 | g.120650794G>A | CA435228346 | HGD | c.414C>T (p.Cys138=) c.291C>T (p.Cys97=) n.522C>T c.45C>T (p.Cys15=) c.-10C>T (n.-10C>T) | dbSNP gnomAD v4 |
3 | g.120650794G>C | CA354078014 | HGD | c.414C>G (p.Cys138Trp) c.291C>G (p.Cys97Trp) n.522C>G c.45C>G (p.Cys15Trp) c.-10C>G (n.-10C>G) | |
3 | g.120650794G= | CA1397098549 | HGD | c.414C= (p.Cys138=) c.291C= (p.Cys97=) n.522C= c.45C= (p.Cys15=) c.-10C= (n.-10C=) | |
3 | g.120650794G>T | CA354078015 | HGD | c.414C>A (p.Cys138Ter) c.291C>A (p.Cys97Ter) n.522C>A c.45C>A (p.Cys15Ter) c.-10C>A (n.-10C>A) | |
3 | g.120650795C>A | CA354078018 | HGD | c.413G>T (p.Cys138Phe) c.290G>T (p.Cys97Phe) n.521G>T c.44G>T (p.Cys15Phe) c.-11G>T (n.-11G>T) | gnomAD v4 |
3 | g.120650795C= | CA1397098550 | HGD | c.413G= (p.Cys138=) c.290G= (p.Cys97=) n.521G= c.44G= (p.Cys15=) c.-11G= (n.-11G=) | |
3 | g.120650795C>G | CA354078017 | HGD | c.413G>C (p.Cys138Ser) c.290G>C (p.Cys97Ser) n.521G>C c.44G>C (p.Cys15Ser) c.-11G>C (n.-11G>C) | |
3 | g.120650795C>T | CA354078016 | HGD | c.413G>A (p.Cys138Tyr) c.290G>A (p.Cys97Tyr) n.521G>A c.44G>A (p.Cys15Tyr) c.-11G>A (n.-11G>A) | ClinVar dbSNP |
3 | g.120650796A>C | CA354078019 | HGD | c.412T>G (p.Cys138Gly) c.289T>G (p.Cys97Gly) n.520T>G c.43T>G (p.Cys15Gly) c.-12T>G (n.-12T>G) | |
3 | g.120650796A>G | CA354078020 | HGD | c.412T>C (p.Cys138Arg) c.289T>C (p.Cys97Arg) n.520T>C c.43T>C (p.Cys15Arg) c.-12T>C (n.-12T>C) | |
3 | g.120650796A>T | CA354078021 | HGD | c.412T>A (p.Cys138Ser) c.289T>A (p.Cys97Ser) n.520T>A c.43T>A (p.Cys15Ser) c.-12T>A (n.-12T>A) | |
3 | g.120650797G>A | CA435228349 | HGD | c.411C>T (p.Leu137=) c.288C>T (p.Leu96=) n.519C>T c.42C>T (p.Leu14=) c.-13C>T (n.-13C>T) | |
3 | g.120650797G>C | CA435228351 | HGD | c.411C>G (p.Leu137=) c.288C>G (p.Leu96=) n.519C>G c.42C>G (p.Leu14=) c.-13C>G (n.-13C>G) | |
3 | g.120650797G>T | CA435228353 | HGD | c.411C>A (p.Leu137=) c.288C>A (p.Leu96=) n.519C>A c.42C>A (p.Leu14=) c.-13C>A (n.-13C>A) | |
3 | g.120650798A>C | CA354078022 | HGD | c.410T>G (p.Leu137Arg) c.287T>G (p.Leu96Arg) n.518T>G c.41T>G (p.Leu14Arg) c.-14T>G (n.-14T>G) | |
3 | g.120650798A>G | CA354078023 | HGD | c.410T>C (p.Leu137Pro) c.287T>C (p.Leu96Pro) n.518T>C c.41T>C (p.Leu14Pro) c.-14T>C (n.-14T>C) | ClinVar |
3 | g.120650798A>T | CA354078024 | HGD | c.410T>A (p.Leu137His) c.287T>A (p.Leu96His) n.518T>A c.41T>A (p.Leu14His) c.-14T>A (n.-14T>A) | |
3 | g.120650798_120650799delinsAG | CA1397098551 | HGD | c.409_410delinsCT (p.Leu137=) c.286_287delinsCT (p.Leu96=) n.517_518delinsCT c.40_41delinsCT (p.Leu14=) c.-15_-14delinsCT (n.-15_-14delinsCT) | |
3 | g.120650799_120650802del | CA2667172202 | HGD | c.407_410del (p.Phe136SerfsTer19) c.284_287del (p.Phe95SerfsTer19) n.515_518del c.38_41del (p.Phe13SerfsTer19) c.-17_-14del (n.-17_-14del) | gnomAD v4 |
3 | g.120650799G>A | CA354078025 | HGD | c.409C>T (p.Leu137Phe) c.286C>T (p.Leu96Phe) n.517C>T c.40C>T (p.Leu14Phe) c.-15C>T (n.-15C>T) | |
3 | g.120650799G>C | CA2560217 | HGD | c.409C>G (p.Leu137Val) c.286C>G (p.Leu96Val) n.517C>G c.40C>G (p.Leu14Val) c.-15C>G (n.-15C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120650799G= | CA1397098552 | HGD | c.409C= (p.Leu137=) c.286C= (p.Leu96=) n.517C= c.40C= (p.Leu14=) c.-15C= (n.-15C=) | |
3 | g.120650799G>T | CA354078026 | HGD | c.409C>A (p.Leu137Ile) c.286C>A (p.Leu96Ile) n.517C>A c.40C>A (p.Leu14Ile) c.-15C>A (n.-15C>A) | |
3 | g.120650800del | CA16040891 | HGD | c.409del (p.Leu137SerfsTer19) c.286del (p.Leu96SerfsTer19) n.517del c.40del (p.Leu14SerfsTer19) c.-15del (n.-15del) | ClinVar dbSNP |
3 | g.120650800G>A | CA435228355 | HGD | c.408C>T (p.Phe136=) c.285C>T (p.Phe95=) n.516C>T c.39C>T (p.Phe13=) c.-16C>T (n.-16C>T) | gnomAD v4 COSMIC |
3 | g.120650800G>C | CA354078027 | HGD | c.408C>G (p.Phe136Leu) c.285C>G (p.Phe95Leu) n.516C>G c.39C>G (p.Phe13Leu) c.-16C>G (n.-16C>G) | |
3 | g.120650800G>T | CA354078028 | HGD | c.408C>A (p.Phe136Leu) c.285C>A (p.Phe95Leu) n.516C>A c.39C>A (p.Phe13Leu) c.-16C>A (n.-16C>A) | gnomAD v4 |
3 | g.120650801A>C | CA354078029 | HGD | c.407T>G (p.Phe136Cys) c.284T>G (p.Phe95Cys) n.515T>G c.38T>G (p.Phe13Cys) c.-17T>G (n.-17T>G) | gnomAD v4 |
3 | g.120650801A>G | CA354078030 | HGD | c.407T>C (p.Phe136Ser) c.284T>C (p.Phe95Ser) n.515T>C c.38T>C (p.Phe13Ser) c.-17T>C (n.-17T>C) | |
3 | g.120650801A>T | CA354078031 | HGD | c.407T>A (p.Phe136Tyr) c.284T>A (p.Phe95Tyr) n.515T>A c.38T>A (p.Phe13Tyr) c.-17T>A (n.-17T>A) | ClinVar |
3 | g.120650804del | CA645535944 | HGD | c.407del (p.Phe136SerfsTer20) c.284del (p.Phe95SerfsTer20) n.515del c.38del (p.Phe13SerfsTer20) c.-17del (n.-17del) | gnomAD v4 COSMIC |
3 | g.120650802A>C | CA354078032 | HGD | c.406T>G (p.Phe136Val) c.283T>G (p.Phe95Val) n.514T>G c.37T>G (p.Phe13Val) c.-18T>G (n.-18T>G) | |
3 | g.120650802A>G | CA354078033 | HGD | c.406T>C (p.Phe136Leu) c.283T>C (p.Phe95Leu) n.514T>C c.37T>C (p.Phe13Leu) c.-18T>C (n.-18T>C) | |
3 | g.120650802A>T | CA354078034 | HGD | c.406T>A (p.Phe136Ile) c.283T>A (p.Phe95Ile) n.514T>A c.37T>A (p.Phe13Ile) c.-18T>A (n.-18T>A) | |
3 | g.120650803A>C | CA354078035 | HGD | c.405T>G (p.Ile135Met) c.282T>G (p.Ile94Met) n.513T>G c.36T>G (p.Ile12Met) c.-19T>G (n.-19T>G) | |
3 | g.120650803A>G | CA435228358 | HGD | c.405T>C (p.Ile135=) c.282T>C (p.Ile94=) n.513T>C c.36T>C (p.Ile12=) c.-19T>C (n.-19T>C) | |
3 | g.120650803A>T | CA435228360 | HGD | c.405T>A (p.Ile135=) c.282T>A (p.Ile94=) n.513T>A c.36T>A (p.Ile12=) c.-19T>A (n.-19T>A) | |
3 | g.120650804A>C | CA354078038 | HGD | c.404T>G (p.Ile135Ser) c.281T>G (p.Ile94Ser) n.512T>G c.35T>G (p.Ile12Ser) c.-20T>G (n.-20T>G) | |
3 | g.120650804A>G | CA354078037 | HGD | c.404T>C (p.Ile135Thr) c.281T>C (p.Ile94Thr) n.512T>C c.35T>C (p.Ile12Thr) c.-20T>C (n.-20T>C) | |
3 | g.120650804A>T | CA354078036 | HGD | c.404T>A (p.Ile135Asn) c.281T>A (p.Ile94Asn) n.512T>A c.35T>A (p.Ile12Asn) c.-20T>A (n.-20T>A) | |
3 | g.120650805T>A | CA354078039 | HGD | c.403A>T (p.Ile135Phe) c.280A>T (p.Ile94Phe) n.511A>T c.34A>T (p.Ile12Phe) c.-21A>T (n.-21A>T) | |
3 | g.120650805T>C | CA354078041 | HGD | c.403A>G (p.Ile135Val) c.280A>G (p.Ile94Val) n.511A>G c.34A>G (p.Ile12Val) c.-21A>G (n.-21A>G) | gnomAD v4 |
3 | g.120650805T>G | CA354078040 | HGD | c.403A>C (p.Ile135Leu) c.280A>C (p.Ile94Leu) n.511A>C c.34A>C (p.Ile12Leu) c.-21A>C (n.-21A>C) | |
3 | g.120650806G>A | CA435228362 | HGD | c.402C>T (p.His134=) c.279C>T (p.His93=) n.510C>T c.33C>T (p.His11=) c.-22C>T (n.-22C>T) | dbSNP COSMIC |
3 | g.120650806G>C | CA354078042 | HGD | c.402C>G (p.His134Gln) c.279C>G (p.His93Gln) n.510C>G c.33C>G (p.His11Gln) c.-22C>G (n.-22C>G) | |
3 | g.120650806G= | CA1397098553 | HGD | c.402C= (p.His134=) c.279C= (p.His93=) n.510C= c.33C= (p.His11=) c.-22C= (n.-22C=) | |
3 | g.120650806G>T | CA354078043 | HGD | c.402C>A (p.His134Gln) c.279C>A (p.His93Gln) n.510C>A c.33C>A (p.His11Gln) c.-22C>A (n.-22C>A) | |
3 | g.120650807T>A | CA354078044 | HGD | c.401A>T (p.His134Leu) c.278A>T (p.His93Leu) n.509A>T c.32A>T (p.His11Leu) c.-23A>T (n.-23A>T) | |
3 | g.120650807T>C | CA354078046 | HGD | c.401A>G (p.His134Arg) c.278A>G (p.His93Arg) n.509A>G c.32A>G (p.His11Arg) c.-23A>G (n.-23A>G) | ClinVar dbSNP gnomAD v4 |
3 | g.120650807T>G | CA354078045 | HGD | c.401A>C (p.His134Pro) c.278A>C (p.His93Pro) n.509A>C c.32A>C (p.His11Pro) c.-23A>C (n.-23A>C) | |
3 | g.120650807T= | CA1397098554 | HGD | c.401A= (p.His134=) c.278A= (p.His93=) n.509A= c.32A= (p.His11=) c.-23A= (n.-23A=) | |
3 | g.120650808G>A | CA354078047 | HGD | c.400C>T (p.His134Tyr) c.277C>T (p.His93Tyr) n.508C>T c.31C>T (p.His11Tyr) c.-24C>T (n.-24C>T) | dbSNP COSMIC |
3 | g.120650808G>C | CA354078049 | HGD | c.400C>G (p.His134Asp) c.277C>G (p.His93Asp) n.508C>G c.31C>G (p.His11Asp) c.-24C>G (n.-24C>G) | |
3 | g.120650808G= | CA1397098555 | HGD | c.400C= (p.His134=) c.277C= (p.His93=) n.508C= c.31C= (p.His11=) c.-24C= (n.-24C=) | |
3 | g.120650808G>T | CA354078048 | HGD | c.400C>A (p.His134Asn) c.277C>A (p.His93Asn) n.508C>A c.31C>A (p.His11Asn) c.-24C>A (n.-24C>A) | |
3 | g.120650809G>A | CA435228364 | HGD | c.399C>T (p.Ile133=) c.276C>T (p.Ile92=) n.507C>T c.30C>T (p.Ile10=) c.-25C>T (n.-25C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120650809G>C | CA354078050 | HGD | c.399C>G (p.Ile133Met) c.276C>G (p.Ile92Met) n.507C>G c.30C>G (p.Ile10Met) c.-25C>G (n.-25C>G) | |
3 | g.120650809G= | CA1397098556 | HGD | c.399C= (p.Ile133=) c.276C= (p.Ile92=) n.507C= c.30C= (p.Ile10=) c.-25C= (n.-25C=) | |
3 | g.120650809G>T | CA435228365 | HGD | c.399C>A (p.Ile133=) c.276C>A (p.Ile92=) n.507C>A c.30C>A (p.Ile10=) c.-25C>A (n.-25C>A) | |
3 | g.120650810del | CA2697556799 | HGD | c.398del (p.Ile133ThrfsTer23) c.275del (p.Ile92ThrfsTer23) n.506del c.29del (p.Ile10ThrfsTer23) c.-26del (n.-26del) | ClinVar |
3 | g.120650810A>C | CA354078053 | HGD | c.398T>G (p.Ile133Ser) c.275T>G (p.Ile92Ser) n.506T>G c.29T>G (p.Ile10Ser) c.-26T>G (n.-26T>G) | |
3 | g.120650810A>G | CA354078051 | HGD | c.398T>C (p.Ile133Thr) c.275T>C (p.Ile92Thr) n.506T>C c.29T>C (p.Ile10Thr) c.-26T>C (n.-26T>C) | |
3 | g.120650810A>T | CA354078052 | HGD | c.398T>A (p.Ile133Asn) c.275T>A (p.Ile92Asn) n.506T>A c.29T>A (p.Ile10Asn) c.-26T>A (n.-26T>A) | |
3 | g.120650811T>A | CA354078054 | HGD | c.397A>T (p.Ile133Phe) c.274A>T (p.Ile92Phe) n.505A>T c.28A>T (p.Ile10Phe) c.-27A>T (n.-27A>T) | |
3 | g.120650811T>C | CA2560218 | HGD | c.397A>G (p.Ile133Val) c.274A>G (p.Ile92Val) n.505A>G c.28A>G (p.Ile10Val) c.-27A>G (n.-27A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.120650811T>G | CA354078055 | HGD | c.397A>C (p.Ile133Leu) c.274A>C (p.Ile92Leu) n.505A>C c.28A>C (p.Ile10Leu) c.-27A>C (n.-27A>C) | |
3 | g.120650811T= | CA1397098557 | HGD | c.397A= (p.Ile133=) c.274A= (p.Ile92=) n.505A= c.28A= (p.Ile10=) c.-27A= (n.-27A=) | |
3 | g.120650812A= | CA1397098558 | HGD | c.396T= (p.Ala132=) c.273T= (p.Ala91=) n.504T= c.27T= (p.Ala9=) c.-28T= (n.-28T=) | |
3 | g.120650812A>C | CA435228366 | HGD | c.396T>G (p.Ala132=) c.273T>G (p.Ala91=) n.504T>G c.27T>G (p.Ala9=) c.-28T>G (n.-28T>G) | |
3 | g.120650812A>G | CA435228367 | HGD | c.396T>C (p.Ala132=) c.273T>C (p.Ala91=) n.504T>C c.27T>C (p.Ala9=) c.-28T>C (n.-28T>C) | |
3 | g.120650812A>T | CA2560219 | HGD | c.396T>A (p.Ala132=) c.273T>A (p.Ala91=) n.504T>A c.27T>A (p.Ala9=) c.-28T>A (n.-28T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650813G>A | CA354078056 | HGD | c.395C>T (p.Ala132Val) c.272C>T (p.Ala91Val) n.503C>T c.26C>T (p.Ala9Val) c.-29C>T (n.-29C>T) | COSMIC |
3 | g.120650813G>C | CA354078057 | HGD | c.395C>G (p.Ala132Gly) c.272C>G (p.Ala91Gly) n.503C>G c.26C>G (p.Ala9Gly) c.-29C>G (n.-29C>G) | |
3 | g.120650813G>T | CA354078058 | HGD | c.395C>A (p.Ala132Asp) c.272C>A (p.Ala91Asp) n.503C>A c.26C>A (p.Ala9Asp) c.-29C>A (n.-29C>A) | |
3 | g.120650814C>A | CA354078059 | HGD | c.394G>T (p.Ala132Ser) c.271G>T (p.Ala91Ser) n.502G>T c.25G>T (p.Ala9Ser) c.-30G>T (n.-30G>T) | |
3 | g.120650814C>G | CA354078060 | HGD | c.394G>C (p.Ala132Pro) c.271G>C (p.Ala91Pro) n.502G>C c.25G>C (p.Ala9Pro) c.-30G>C (n.-30G>C) | |
3 | g.120650814C>T | CA354078061 | HGD | c.394G>A (p.Ala132Thr) c.271G>A (p.Ala91Thr) n.502G>A c.25G>A (p.Ala9Thr) c.-30G>A (n.-30G>A) | |
3 | g.120650815A= | CA1397098559 | HGD | c.393T= (p.Leu131=) c.270T= (p.Leu90=) n.501T= c.24T= (p.Leu8=) c.-31T= (n.-31T=) | |
3 | g.120650815A>C | CA435228370 | HGD | c.393T>G (p.Leu131=) c.270T>G (p.Leu90=) n.501T>G c.24T>G (p.Leu8=) c.-31T>G (n.-31T>G) | |
3 | g.120650815A>G | CA435228371 | HGD | c.393T>C (p.Leu131=) c.270T>C (p.Leu90=) n.501T>C c.24T>C (p.Leu8=) c.-31T>C (n.-31T>C) | |
3 | g.120650815A>T | CA435228372 | HGD | c.393T>A (p.Leu131=) c.270T>A (p.Leu90=) n.501T>A c.24T>A (p.Leu8=) c.-31T>A (n.-31T>A) | |
3 | g.120650816A>C | CA354078062 | HGD | c.392T>G (p.Leu131Arg) c.269T>G (p.Leu90Arg) n.500T>G c.23T>G (p.Leu8Arg) c.-32T>G (n.-32T>G) | |
3 | g.120650816A>G | CA354078064 | HGD | c.392T>C (p.Leu131Pro) c.269T>C (p.Leu90Pro) n.500T>C c.23T>C (p.Leu8Pro) c.-32T>C (n.-32T>C) | |
3 | g.120650816A>T | CA354078063 | HGD | c.392T>A (p.Leu131His) c.269T>A (p.Leu90His) n.500T>A c.23T>A (p.Leu8His) c.-32T>A (n.-32T>A) | |
3 | g.120650818_120650862dup | CA2560220 | HGD | c.348_392dup (p.Leu131_Ala132insHisThrLeuCysGlyAlaGlyAspIleLysSerAsnAsnGlyLeu) c.225_269dup (p.Leu90_Ala91insHisThrLeuCysGlyAlaGlyAspIleLysSerAsnAsnGlyLeu) n.456_500dup c.-76_-32dup (n.-76_-32dup) | dbSNP ExAC gnomAD v2 |
3 | g.120650817G>A | CA354078065 | HGD | c.391C>T (p.Leu131Phe) c.268C>T (p.Leu90Phe) n.499C>T c.22C>T (p.Leu8Phe) c.-33C>T (n.-33C>T) | gnomAD v4 |
3 | g.120650817G>C | CA354078066 | HGD | c.391C>G (p.Leu131Val) c.268C>G (p.Leu90Val) n.499C>G c.22C>G (p.Leu8Val) c.-33C>G (n.-33C>G) | |
3 | g.120650817G>T | CA354078067 | HGD | c.391C>A (p.Leu131Ile) c.268C>A (p.Leu90Ile) n.499C>A c.22C>A (p.Leu8Ile) c.-33C>A (n.-33C>A) | |
3 | g.120650817_120650818delinsGC | CA1397098560 | HGD | c.390_391delinsGC (p.Gly130=) c.267_268delinsGC (p.Gly89=) n.498_499delinsGC c.21_22delinsGC (p.Gly7=) c.-34_-33delinsGC (n.-34_-33delinsGC) | |
3 | g.120650818C>A | CA2560221 | HGD | c.390G>T (p.Gly130=) c.267G>T (p.Gly89=) n.498G>T c.21G>T (p.Gly7=) c.-34G>T (n.-34G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650818C= | CA1397098561 | HGD | c.390G= (p.Gly130=) c.267G= (p.Gly89=) n.498G= c.21G= (p.Gly7=) c.-34G= (n.-34G=) | |
3 | g.120650818C>G | CA435228374 | HGD | c.390G>C (p.Gly130=) c.267G>C (p.Gly89=) n.498G>C c.21G>C (p.Gly7=) c.-34G>C (n.-34G>C) | COSMIC |
3 | g.120650818C>T | CA435228375 | HGD | c.390G>A (p.Gly130=) c.267G>A (p.Gly89=) n.498G>A c.21G>A (p.Gly7=) c.-34G>A (n.-34G>A) | |
3 | g.120650820del | CA16040892 | HGD | c.390del (p.Ala132LeufsTer24) c.267del (p.Ala91LeufsTer24) n.498del c.21del (p.Ala9LeufsTer24) c.-34del (n.-34del) | ClinVar dbSNP |
3 | g.120650819C>A | CA354078068 | HGD | c.389G>T (p.Gly130Val) c.266G>T (p.Gly89Val) n.497G>T c.20G>T (p.Gly7Val) c.-35G>T (n.-35G>T) | dbSNP COSMIC |
3 | g.120650819C= | CA1397098562 | HGD | c.389G= (p.Gly130=) c.266G= (p.Gly89=) n.497G= c.20G= (p.Gly7=) c.-35G= (n.-35G=) | |
3 | g.120650819C>G | CA354078069 | HGD | c.389G>C (p.Gly130Ala) c.266G>C (p.Gly89Ala) n.497G>C c.20G>C (p.Gly7Ala) c.-35G>C (n.-35G>C) | |
3 | g.120650819C>T | CA354078070 | HGD | c.389G>A (p.Gly130Glu) c.266G>A (p.Gly89Glu) n.497G>A c.20G>A (p.Gly7Glu) c.-35G>A (n.-35G>A) | |
3 | g.120650820C>A | CA354078071 | HGD | c.388G>T (p.Gly130Trp) c.265G>T (p.Gly89Trp) n.496G>T c.19G>T (p.Gly7Trp) c.-36G>T (n.-36G>T) | |
3 | g.120650820C>G | CA354078072 | HGD | c.388G>C (p.Gly130Arg) c.265G>C (p.Gly89Arg) n.496G>C c.19G>C (p.Gly7Arg) c.-36G>C (n.-36G>C) | |
3 | g.120650820C>T | CA354078073 | HGD | c.388G>A (p.Gly130Arg) c.265G>A (p.Gly89Arg) n.496G>A c.19G>A (p.Gly7Arg) c.-36G>A (n.-36G>A) | |
3 | g.120650821A= | CA1397098563 | HGD | c.387T= (p.Asn129=) c.264T= (p.Asn88=) n.495T= c.18T= (p.Asn6=) c.-37T= (n.-37T=) | |
3 | g.120650821A>C | CA354078074 | HGD | c.387T>G (p.Asn129Lys) c.264T>G (p.Asn88Lys) n.495T>G c.18T>G (p.Asn6Lys) c.-37T>G (n.-37T>G) | |
3 | g.120650821A>G | CA435228377 | HGD | c.387T>C (p.Asn129=) c.264T>C (p.Asn88=) n.495T>C c.18T>C (p.Asn6=) c.-37T>C (n.-37T>C) | gnomAD v4 |
3 | g.120650821A>T | CA2560222 | HGD | c.387T>A (p.Asn129Lys) c.264T>A (p.Asn88Lys) n.495T>A c.18T>A (p.Asn6Lys) c.-37T>A (n.-37T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120650822T>A | CA354078075 | HGD | c.386A>T (p.Asn129Ile) c.263A>T (p.Asn88Ile) n.494A>T c.17A>T (p.Asn6Ile) c.-38A>T (n.-38A>T) | |
3 | g.120650822T>C | CA2560223 | HGD | c.386A>G (p.Asn129Ser) c.263A>G (p.Asn88Ser) n.494A>G c.17A>G (p.Asn6Ser) c.-38A>G (n.-38A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650822T>G | CA354078076 | HGD | c.386A>C (p.Asn129Thr) c.263A>C (p.Asn88Thr) n.494A>C c.17A>C (p.Asn6Thr) c.-38A>C (n.-38A>C) | |
3 | g.120650822T= | CA1397098564 | HGD | c.386A= (p.Asn129=) c.263A= (p.Asn88=) n.494A= c.17A= (p.Asn6=) c.-38A= (n.-38A=) | |
3 | g.120650823T>A | CA354078077 | HGD | c.385A>T (p.Asn129Tyr) c.262A>T (p.Asn88Tyr) n.493A>T c.16A>T (p.Asn6Tyr) c.-39A>T (n.-39A>T) | |
3 | g.120650823T>C | CA354078078 | HGD | c.385A>G (p.Asn129Asp) c.262A>G (p.Asn88Asp) n.493A>G c.16A>G (p.Asn6Asp) c.-39A>G (n.-39A>G) | |
3 | g.120650823T>G | CA354078079 | HGD | c.385A>C (p.Asn129His) c.262A>C (p.Asn88His) n.493A>C c.16A>C (p.Asn6His) c.-39A>C (n.-39A>C) | |
3 | g.120650824G>A | CA435228379 | HGD | c.384C>T (p.Asn128=) c.261C>T (p.Asn87=) n.492C>T c.15C>T (p.Asn5=) c.-40C>T (n.-40C>T) | |
3 | g.120650824G>C | CA354078080 | HGD | c.384C>G (p.Asn128Lys) c.261C>G (p.Asn87Lys) n.492C>G c.15C>G (p.Asn5Lys) c.-40C>G (n.-40C>G) | |
3 | g.120650824G= | CA1397098565 | HGD | c.384C= (p.Asn128=) c.261C= (p.Asn87=) n.492C= c.15C= (p.Asn5=) c.-40C= (n.-40C=) | |
3 | g.120650824G>T | CA81789604 | HGD | c.384C>A (p.Asn128Lys) c.261C>A (p.Asn87Lys) n.492C>A c.15C>A (p.Asn5Lys) c.-40C>A (n.-40C>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120650825T>A | CA354078081 | HGD | c.383A>T (p.Asn128Ile) c.260A>T (p.Asn87Ile) n.491A>T c.14A>T (p.Asn5Ile) c.-41A>T (n.-41A>T) | |
3 | g.120650825T>C | CA354078082 | HGD | c.383A>G (p.Asn128Ser) c.260A>G (p.Asn87Ser) n.491A>G c.14A>G (p.Asn5Ser) c.-41A>G (n.-41A>G) | |
3 | g.120650825T>G | CA354078083 | HGD | c.383A>C (p.Asn128Thr) c.260A>C (p.Asn87Thr) n.491A>C c.14A>C (p.Asn5Thr) c.-41A>C (n.-41A>C) | |
3 | g.120650826T>A | CA354078086 | HGD | c.382A>T (p.Asn128Tyr) c.259A>T (p.Asn87Tyr) n.490A>T c.13A>T (p.Asn5Tyr) c.-42A>T (n.-42A>T) | |
3 | g.120650826T>C | CA354078085 | HGD | c.382A>G (p.Asn128Asp) c.259A>G (p.Asn87Asp) n.490A>G c.13A>G (p.Asn5Asp) c.-42A>G (n.-42A>G) | |
3 | g.120650826T>G | CA354078084 | HGD | c.382A>C (p.Asn128His) c.259A>C (p.Asn87His) n.490A>C c.13A>C (p.Asn5His) c.-42A>C (n.-42A>C) | |
3 | g.120650827A= | CA1397098566 | HGD | c.381T= (p.Ser127=) c.258T= (p.Ser86=) n.489T= c.12T= (p.Ser4=) c.-43T= (n.-43T=) | |
3 | g.120650827A>C | CA435228381 | HGD | c.381T>G (p.Ser127=) c.258T>G (p.Ser86=) n.489T>G c.12T>G (p.Ser4=) c.-43T>G (n.-43T>G) | |
3 | g.120650827A>G | CA435228382 | HGD | c.381T>C (p.Ser127=) c.258T>C (p.Ser86=) n.489T>C c.12T>C (p.Ser4=) c.-43T>C (n.-43T>C) | |
3 | g.120650827A>T | CA81789606 | HGD | c.381T>A (p.Ser127=) c.258T>A (p.Ser86=) n.489T>A c.12T>A (p.Ser4=) c.-43T>A (n.-43T>A) | dbSNP gnomAD v4 |
3 | g.120650828G>A | CA354078087 | HGD | c.380C>T (p.Ser127Phe) c.257C>T (p.Ser86Phe) n.488C>T c.11C>T (p.Ser4Phe) c.-44C>T (n.-44C>T) | |
3 | g.120650828G>C | CA354078088 | HGD | c.380C>G (p.Ser127Cys) c.257C>G (p.Ser86Cys) n.488C>G c.11C>G (p.Ser4Cys) c.-44C>G (n.-44C>G) | |
3 | g.120650828G>T | CA354078089 | HGD | c.380C>A (p.Ser127Tyr) c.257C>A (p.Ser86Tyr) n.488C>A c.11C>A (p.Ser4Tyr) c.-44C>A (n.-44C>A) | |
3 | g.120650829A>C | CA354078090 | HGD | c.379T>G (p.Ser127Ala) c.256T>G (p.Ser86Ala) n.487T>G c.10T>G (p.Ser4Ala) c.-45T>G (n.-45T>G) | |
3 | g.120650829A>G | CA354078091 | HGD | c.379T>C (p.Ser127Pro) c.256T>C (p.Ser86Pro) n.487T>C c.10T>C (p.Ser4Pro) c.-45T>C (n.-45T>C) | |
3 | g.120650829A>T | CA354078092 | HGD | c.379T>A (p.Ser127Thr) c.256T>A (p.Ser86Thr) n.487T>A c.10T>A (p.Ser4Thr) c.-45T>A (n.-45T>A) | |
3 | g.120650830del | CA2580068608 | HGD | c.378del (p.Lys126AsnfsTer30) c.255del (p.Lys85AsnfsTer30) n.486del c.9del (p.Lys3AsnfsTer30) c.-46del (n.-46del) | ClinVar |
3 | g.120650830C>A | CA354078093 | HGD | c.378G>T (p.Lys126Asn) c.255G>T (p.Lys85Asn) n.486G>T c.9G>T (p.Lys3Asn) c.-46G>T (n.-46G>T) | dbSNP gnomAD v4 |
3 | g.120650830C= | CA1397098568 | HGD | c.378G= (p.Lys126=) c.255G= (p.Lys85=) n.486G= c.9G= (p.Lys3=) c.-46G= (n.-46G=) | |
3 | g.120650830C>G | CA2560224 | HGD | c.378G>C (p.Lys126Asn) c.255G>C (p.Lys85Asn) n.486G>C c.9G>C (p.Lys3Asn) c.-46G>C (n.-46G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120650830C>T | CA435228385 | HGD | c.378G>A (p.Lys126=) c.255G>A (p.Lys85=) n.486G>A c.9G>A (p.Lys3=) c.-46G>A (n.-46G>A) | |
3 | g.120650830_120650832delinsCTT | CA1397098567 | HGD | c.376_378delinsAAG (p.Lys126=) c.253_255delinsAAG (p.Lys85=) n.484_486delinsAAG c.7_9delinsAAG (p.Lys3=) c.-48_-46delinsAAG (n.-48_-46delinsAAG) | |
3 | g.120650831T>A | CA354078094 | HGD | c.377A>T (p.Lys126Met) c.254A>T (p.Lys85Met) n.485A>T c.8A>T (p.Lys3Met) c.-47A>T (n.-47A>T) | |
3 | g.120650831T>C | CA354078095 | HGD | c.377A>G (p.Lys126Arg) c.254A>G (p.Lys85Arg) n.485A>G c.8A>G (p.Lys3Arg) c.-47A>G (n.-47A>G) | |
3 | g.120650831T>G | CA354078096 | HGD | c.377A>C (p.Lys126Thr) c.254A>C (p.Lys85Thr) n.485A>C c.8A>C (p.Lys3Thr) c.-47A>C (n.-47A>C) | dbSNP gnomAD v4 |
3 | g.120650831T= | CA1397098569 | HGD | c.377A= (p.Lys126=) c.254A= (p.Lys85=) n.485A= c.8A= (p.Lys3=) c.-47A= (n.-47A=) | |
3 | g.120650832_120650833del | CA16040893 | HGD | c.376_377del (p.Lys126ValfsTer2) c.253_254del (p.Lys85ValfsTer2) n.484_485del c.7_8del (p.Lys3ValfsTer2) c.-48_-47del (n.-48_-47del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650832T>A | CA354078099 | HGD | c.376A>T (p.Lys126Ter) c.253A>T (p.Lys85Ter) n.484A>T c.7A>T (p.Lys3Ter) c.-48A>T (n.-48A>T) | |
3 | g.120650832T>C | CA354078098 | HGD | c.376A>G (p.Lys126Glu) c.253A>G (p.Lys85Glu) n.484A>G c.7A>G (p.Lys3Glu) c.-48A>G (n.-48A>G) | |
3 | g.120650832T>G | CA354078097 | HGD | c.376A>C (p.Lys126Gln) c.253A>C (p.Lys85Gln) n.484A>C c.7A>C (p.Lys3Gln) c.-48A>C (n.-48A>C) | |
3 | g.120650833T>A | CA435228391 | HGD | c.375A>T (p.Ile125=) c.252A>T (p.Ile84=) n.483A>T c.6A>T (p.Ile2=) c.-49A>T (n.-49A>T) | ClinVar dbSNP gnomAD v2 |
3 | g.120650833T>C | CA354078100 | HGD | c.375A>G (p.Ile125Met) c.252A>G (p.Ile84Met) n.483A>G c.6A>G (p.Ile2Met) c.-49A>G (n.-49A>G) | |
3 | g.120650833T>G | CA435228392 | HGD | c.375A>C (p.Ile125=) c.252A>C (p.Ile84=) n.483A>C c.6A>C (p.Ile2=) c.-49A>C (n.-49A>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120650833T= | CA1397098570 | HGD | c.375A= (p.Ile125=) c.252A= (p.Ile84=) n.483A= c.6A= (p.Ile2=) c.-49A= (n.-49A=) | |
3 | g.120650834A= | CA1397098571 | HGD | c.374T= (p.Ile125=) c.251T= (p.Ile84=) n.482T= c.5T= (p.Ile2=) c.-50T= (n.-50T=) | |
3 | g.120650834A>C | CA354078103 | HGD | c.374T>G (p.Ile125Arg) c.251T>G (p.Ile84Arg) n.482T>G c.5T>G (p.Ile2Arg) c.-50T>G (n.-50T>G) | |
3 | g.120650834A>G | CA354078101 | HGD | c.374T>C (p.Ile125Thr) c.251T>C (p.Ile84Thr) n.482T>C c.5T>C (p.Ile2Thr) c.-50T>C (n.-50T>C) | dbSNP |
3 | g.120650834A>T | CA354078102 | HGD | c.374T>A (p.Ile125Lys) c.251T>A (p.Ile84Lys) n.482T>A c.5T>A (p.Ile2Lys) c.-50T>A (n.-50T>A) | |
3 | g.120650835T>A | CA354078104 | HGD | c.373A>T (p.Ile125Leu) c.250A>T (p.Ile84Leu) n.481A>T c.4A>T (p.Ile2Leu) c.-51A>T (n.-51A>T) | |
3 | g.120650835T>C | CA2560225 | HGD | c.373A>G (p.Ile125Val) c.250A>G (p.Ile84Val) n.481A>G c.4A>G (p.Ile2Val) c.-51A>G (n.-51A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120650835T>G | CA354078105 | HGD | c.373A>C (p.Ile125Leu) c.250A>C (p.Ile84Leu) n.481A>C c.4A>C (p.Ile2Leu) c.-51A>C (n.-51A>C) | |
3 | g.120650835T= | CA1397098572 | HGD | c.373A= (p.Ile125=) c.250A= (p.Ile84=) n.481A= c.4A= (p.Ile2=) c.-51A= (n.-51A=) | |
3 | g.120650836G>A | CA2560226 | HGD | c.372C>T (p.Asp124=) c.249C>T (p.Asp83=) n.480C>T c.3C>T (p.Asp1=) c.-52C>T (n.-52C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650836G>C | CA354078106 | HGD | c.372C>G (p.Asp124Glu) c.249C>G (p.Asp83Glu) n.480C>G c.3C>G (p.Asp1Glu) c.-52C>G (n.-52C>G) | |
3 | g.120650836G= | CA1397098573 | HGD | c.372C= (p.Asp124=) c.249C= (p.Asp83=) n.480C= c.3C= (p.Asp1=) c.-52C= (n.-52C=) | |
3 | g.120650836G>T | CA354078107 | HGD | c.372C>A (p.Asp124Glu) c.249C>A (p.Asp83Glu) n.480C>A c.3C>A (p.Asp1Glu) c.-52C>A (n.-52C>A) | |
3 | g.120650837T>A | CA354078108 | HGD | c.371A>T (p.Asp124Val) c.248A>T (p.Asp83Val) n.479A>T c.2A>T (p.Asp1Val) c.-53A>T (n.-53A>T) | |
3 | g.120650837T>C | CA354078109 | HGD | c.371A>G (p.Asp124Gly) c.248A>G (p.Asp83Gly) n.479A>G c.2A>G (p.Asp1Gly) c.-53A>G (n.-53A>G) | gnomAD v4 |
3 | g.120650837T>G | CA354078110 | HGD | c.371A>C (p.Asp124Ala) c.248A>C (p.Asp83Ala) n.479A>C c.2A>C (p.Asp1Ala) c.-53A>C (n.-53A>C) | |
3 | g.120650838C>A | CA354078113 | HGD | c.370G>T (p.Asp124Tyr) c.247G>T (p.Asp83Tyr) n.478G>T c.1G>T (p.Asp1Tyr) c.-54G>T (n.-54G>T) | |
3 | g.120650838C>G | CA354078112 | HGD | c.370G>C (p.Asp124His) c.247G>C (p.Asp83His) n.478G>C c.1G>C (p.Asp1His) c.-54G>C (n.-54G>C) | |
3 | g.120650838C>T | CA354078111 | HGD | c.370G>A (p.Asp124Asn) c.247G>A (p.Asp83Asn) n.478G>A c.1G>A (p.Asp1Asn) c.-54G>A (n.-54G>A) | gnomAD v4 |
3 | g.120650839T>A | CA435228396 | HGD | c.369A>T (p.Gly123=) c.246A>T (p.Gly82=) n.477A>T c.-55A>T (n.-55A>T) | |
3 | g.120650839T>C | CA435228398 | HGD | c.369A>G (p.Gly123=) c.246A>G (p.Gly82=) n.477A>G c.-55A>G (n.-55A>G) | |
3 | g.120650839T>G | CA435228399 | HGD | c.369A>C (p.Gly123=) c.246A>C (p.Gly82=) n.477A>C c.-55A>C (n.-55A>C) | |
3 | g.120650840C>A | CA354078114 | HGD | c.368G>T (p.Gly123Val) c.245G>T (p.Gly82Val) n.476G>T c.-56G>T (n.-56G>T) | |
3 | g.120650840C= | CA1397098574 | HGD | c.368G= (p.Gly123=) c.245G= (p.Gly82=) n.476G= c.-56G= (n.-56G=) | |
3 | g.120650840C>G | CA81789629 | HGD | c.368G>C (p.Gly123Ala) c.245G>C (p.Gly82Ala) n.476G>C c.-56G>C (n.-56G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.120650840C>T | CA81789630 | HGD | c.368G>A (p.Gly123Glu) c.245G>A (p.Gly82Glu) n.476G>A c.-56G>A (n.-56G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.120650841C>A | CA354078115 | HGD | c.367G>T (p.Gly123Ter) c.244G>T (p.Gly82Ter) n.475G>T c.-57G>T (n.-57G>T) | |
3 | g.120650841C= | CA1397098575 | HGD | c.367G= (p.Gly123=) c.244G= (p.Gly82=) n.475G= c.-57G= (n.-57G=) | |
3 | g.120650841C>G | CA354078116 | HGD | c.367G>C (p.Gly123Arg) c.244G>C (p.Gly82Arg) n.475G>C c.-57G>C (n.-57G>C) | |
3 | g.120650841C>T | CA2560227 | HGD | c.367G>A (p.Gly123Arg) c.244G>A (p.Gly82Arg) n.475G>A c.-57G>A (n.-57G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650842A>C | CA435228401 | HGD | c.366T>G (p.Ala122=) c.243T>G (p.Ala81=) n.474T>G c.-58T>G (n.-58T>G) | |
3 | g.120650842A>G | CA435228403 | HGD | c.366T>C (p.Ala122=) c.243T>C (p.Ala81=) n.474T>C c.-58T>C (n.-58T>C) | |
3 | g.120650842A>T | CA435228405 | HGD | c.366T>A (p.Ala122=) c.243T>A (p.Ala81=) n.474T>A c.-58T>A (n.-58T>A) | |
3 | g.120650843G>A | CA277986 | HGD | c.365C>T (p.Ala122Val) c.242C>T (p.Ala81Val) n.473C>T c.-59C>T (n.-59C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650843G>C | CA354078117 | HGD | c.365C>G (p.Ala122Gly) c.242C>G (p.Ala81Gly) n.473C>G c.-59C>G (n.-59C>G) | gnomAD v4 |
3 | g.120650843G= | CA1397098576 | HGD | c.365C= (p.Ala122=) c.242C= (p.Ala81=) n.473C= c.-59C= (n.-59C=) | |
3 | g.120650843G>T | CA354078118 | HGD | c.365C>A (p.Ala122Asp) c.242C>A (p.Ala81Asp) n.473C>A c.-59C>A (n.-59C>A) | ClinVar dbSNP |
3 | g.120650844C>A | CA354078119 | HGD | c.364G>T (p.Ala122Ser) c.241G>T (p.Ala81Ser) n.472G>T c.-60G>T (n.-60G>T) | |
3 | g.120650844C>G | CA354078120 | HGD | c.364G>C (p.Ala122Pro) c.241G>C (p.Ala81Pro) n.472G>C c.-60G>C (n.-60G>C) | |
3 | g.120650844C>T | CA354078121 | HGD | c.364G>A (p.Ala122Thr) c.241G>A (p.Ala81Thr) n.472G>A c.-60G>A (n.-60G>A) | gnomAD v4 |
3 | g.120650845T>A | CA435228412 | HGD | c.363A>T (p.Gly121=) c.240A>T (p.Gly80=) n.471A>T c.-61A>T (n.-61A>T) | |
3 | g.120650845T>C | CA435228408 | HGD | c.363A>G (p.Gly121=) c.240A>G (p.Gly80=) n.471A>G c.-61A>G (n.-61A>G) | |
3 | g.120650845T>G | CA435228410 | HGD | c.363A>C (p.Gly121=) c.240A>C (p.Gly80=) n.471A>C c.-61A>C (n.-61A>C) | |
3 | g.120650846C>A | CA354078124 | HGD | c.362G>T (p.Gly121Val) c.239G>T (p.Gly80Val) n.470G>T c.-62G>T (n.-62G>T) | |
3 | g.120650846C>G | CA354078123 | HGD | c.362G>C (p.Gly121Ala) c.239G>C (p.Gly80Ala) n.470G>C c.-62G>C (n.-62G>C) | |
3 | g.120650846C>T | CA354078122 | HGD | c.362G>A (p.Gly121Glu) c.239G>A (p.Gly80Glu) n.470G>A c.-62G>A (n.-62G>A) | ClinVar |
3 | g.120650847C>A | CA354078125 | HGD | c.361G>T (p.Gly121Ter) c.238G>T (p.Gly80Ter) n.469G>T c.-63G>T (n.-63G>T) | |
3 | g.120650847C= | CA1397098577 | HGD | c.361G= (p.Gly121=) c.238G= (p.Gly80=) n.469G= c.-63G= (n.-63G=) | |
3 | g.120650847C>G | CA354078126 | HGD | c.361G>C (p.Gly121Arg) c.238G>C (p.Gly80Arg) n.469G>C c.-63G>C (n.-63G>C) | |
3 | g.120650847C>T | CA81789640 | HGD | c.361G>A (p.Gly121Arg) c.238G>A (p.Gly80Arg) n.469G>A c.-63G>A (n.-63G>A) | dbSNP |
3 | g.120650848A= | CA1397098578 | HGD | c.360T= (p.Cys120=) c.237T= (p.Cys79=) n.468T= c.-64T= (n.-64T=) | |
3 | g.120650848A>C | CA344906 | HGD | c.360T>G (p.Cys120Trp) c.237T>G (p.Cys79Trp) n.468T>G c.-64T>G (n.-64T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.120650848A>G | CA2560228 | HGD | c.360T>C (p.Cys120=) c.237T>C (p.Cys79=) n.468T>C c.-64T>C (n.-64T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650848A>T | CA354078127 | HGD | c.360T>A (p.Cys120Ter) c.237T>A (p.Cys79Ter) n.468T>A c.-64T>A (n.-64T>A) | |
3 | g.120650849C>A | CA2560230 | HGD | c.359G>T (p.Cys120Phe) c.236G>T (p.Cys79Phe) n.467G>T c.-65G>T (n.-65G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650849C= | CA1397098579 | HGD | c.359G= (p.Cys120=) c.236G= (p.Cys79=) n.467G= c.-65G= (n.-65G=) | |
3 | g.120650849C>G | CA354078128 | HGD | c.359G>C (p.Cys120Ser) c.236G>C (p.Cys79Ser) n.467G>C c.-65G>C (n.-65G>C) | |
3 | g.120650849C>T | CA2560229 | HGD | c.359G>A (p.Cys120Tyr) c.236G>A (p.Cys79Tyr) n.467G>A c.-65G>A (n.-65G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120650850A>C | CA354078129 | HGD | c.358T>G (p.Cys120Gly) c.235T>G (p.Cys79Gly) n.466T>G c.-66T>G (n.-66T>G) | |
3 | g.120650850A>G | CA354078130 | HGD | c.358T>C (p.Cys120Arg) c.235T>C (p.Cys79Arg) n.466T>C c.-66T>C (n.-66T>C) | |
3 | g.120650850A>T | CA354078131 | HGD | c.358T>A (p.Cys120Ser) c.235T>A (p.Cys79Ser) n.466T>A c.-66T>A (n.-66T>A) | |
3 | g.120650851C>A | CA354078132 | HGD | c.357G>T (p.Leu119Phe) c.234G>T (p.Leu78Phe) n.465G>T c.-67G>T (n.-67G>T) | gnomAD v4 |
3 | g.120650851C>G | CA354078133 | HGD | c.357G>C (p.Leu119Phe) c.234G>C (p.Leu78Phe) n.465G>C c.-67G>C (n.-67G>C) | gnomAD v4 |
3 | g.120650851C>T | CA435228419 | HGD | c.357G>A (p.Leu119=) c.234G>A (p.Leu78=) n.465G>A c.-67G>A (n.-67G>A) | gnomAD v4 |
3 | g.120650851dup | CA2582342883 | HGD | c.357dup (p.Cys120ValfsTer9) c.234dup (p.Cys79ValfsTer9) n.465dup c.-67dup (n.-67dup) | ClinVar |
3 | g.120650852A>C | CA354078134 | HGD | c.356T>G (p.Leu119Trp) c.233T>G (p.Leu78Trp) n.464T>G c.-68T>G (n.-68T>G) | |
3 | g.120650852A>G | CA354078136 | HGD | c.356T>C (p.Leu119Ser) c.233T>C (p.Leu78Ser) n.464T>C c.-68T>C (n.-68T>C) | |
3 | g.120650852A>T | CA354078135 | HGD | c.356T>A (p.Leu119Ter) c.233T>A (p.Leu78Ter) n.464T>A c.-68T>A (n.-68T>A) | |
3 | g.120650853A>C | CA354078137 | HGD | c.355T>G (p.Leu119Val) c.232T>G (p.Leu78Val) n.463T>G c.-69T>G (n.-69T>G) | |
3 | g.120650853A>G | CA435228421 | HGD | c.355T>C (p.Leu119=) c.232T>C (p.Leu78=) n.463T>C c.-69T>C (n.-69T>C) | |
3 | g.120650853A>T | CA354078138 | HGD | c.355T>A (p.Leu119Met) c.232T>A (p.Leu78Met) n.463T>A c.-69T>A (n.-69T>A) | gnomAD v4 |
3 | g.120650854G>A | CA81789679 | HGD | c.354C>T (p.Thr118=) c.231C>T (p.Thr77=) n.462C>T c.-70C>T (n.-70C>T) | dbSNP |
3 | g.120650854G>C | CA435228423 | HGD | c.354C>G (p.Thr118=) c.231C>G (p.Thr77=) n.462C>G c.-70C>G (n.-70C>G) | |
3 | g.120650854G= | CA1397098580 | HGD | c.354C= (p.Thr118=) c.231C= (p.Thr77=) n.462C= c.-70C= (n.-70C=) | |
3 | g.120650854G>T | CA435228424 | HGD | c.354C>A (p.Thr118=) c.231C>A (p.Thr77=) n.462C>A c.-70C>A (n.-70C>A) | |
3 | g.120650855G>A | CA354078139 | HGD | c.353C>T (p.Thr118Ile) c.230C>T (p.Thr77Ile) n.461C>T c.-71C>T (n.-71C>T) | |
3 | g.120650855G>C | CA354078140 | HGD | c.353C>G (p.Thr118Ser) c.230C>G (p.Thr77Ser) n.461C>G c.-71C>G (n.-71C>G) | |
3 | g.120650855G>T | CA354078141 | HGD | c.353C>A (p.Thr118Asn) c.230C>A (p.Thr77Asn) n.461C>A c.-71C>A (n.-71C>A) | |
3 | g.120650856T>A | CA354078142 | HGD | c.352A>T (p.Thr118Ser) c.229A>T (p.Thr77Ser) n.460A>T c.-72A>T (n.-72A>T) | |
3 | g.120650856T>C | CA354078143 | HGD | c.352A>G (p.Thr118Ala) c.229A>G (p.Thr77Ala) n.460A>G c.-72A>G (n.-72A>G) | |
3 | g.120650856T>G | CA354078144 | HGD | c.352A>C (p.Thr118Pro) c.229A>C (p.Thr77Pro) n.460A>C c.-72A>C (n.-72A>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120650856T= | CA1397098581 | HGD | c.352A= (p.Thr118=) c.229A= (p.Thr77=) n.460A= c.-72A= (n.-72A=) | |
3 | g.120650857A>C | CA354078145 | HGD | c.351T>G (p.His117Gln) c.228T>G (p.His76Gln) n.459T>G c.-73T>G (n.-73T>G) | |
3 | g.120650857A>G | CA435228426 | HGD | c.351T>C (p.His117=) c.228T>C (p.His76=) n.459T>C c.-73T>C (n.-73T>C) | |
3 | g.120650857A>T | CA354078146 | HGD | c.351T>A (p.His117Gln) c.228T>A (p.His76Gln) n.459T>A c.-73T>A (n.-73T>A) | |
3 | g.120650858T>A | CA354078149 | HGD | c.350A>T (p.His117Leu) c.227A>T (p.His76Leu) n.458A>T c.-74A>T (n.-74A>T) | |
3 | g.120650858T>C | CA354078148 | HGD | c.350A>G (p.His117Arg) c.227A>G (p.His76Arg) n.458A>G c.-74A>G (n.-74A>G) | dbSNP |
3 | g.120650858T>G | CA354078147 | HGD | c.350A>C (p.His117Pro) c.227A>C (p.His76Pro) n.458A>C c.-74A>C (n.-74A>C) | |
3 | g.120650858T= | CA1397098582 | HGD | c.350A= (p.His117=) c.227A= (p.His76=) n.458A= c.-74A= (n.-74A=) | |
3 | g.120650859G>A | CA354078150 | HGD | c.349C>T (p.His117Tyr) c.226C>T (p.His76Tyr) n.457C>T c.-75C>T (n.-75C>T) | |
3 | g.120650859G>C | CA354078151 | HGD | c.349C>G (p.His117Asp) c.226C>G (p.His76Asp) n.457C>G c.-75C>G (n.-75C>G) | |
3 | g.120650859G= | CA1397098583 | HGD | c.349C= (p.His117=) c.226C= (p.His76=) n.457C= c.-75C= (n.-75C=) | |
3 | g.120650859G>T | CA2560231 | HGD | c.349C>A (p.His117Asn) c.226C>A (p.His76Asn) n.457C>A c.-75C>A (n.-75C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120650860C>A | CA435228431 | HGD | c.348G>T (p.Leu116=) c.225G>T (p.Leu75=) n.456G>T c.-76G>T (n.-76G>T) | |
3 | g.120650860C>G | CA435228433 | HGD | c.348G>C (p.Leu116=) c.225G>C (p.Leu75=) n.456G>C c.-76G>C (n.-76G>C) | |
3 | g.120650860C>T | CA435228434 | HGD | c.348G>A (p.Leu116=) c.225G>A (p.Leu75=) n.456G>A c.-76G>A (n.-76G>A) | gnomAD v4 |
3 | g.120650860_120650866del | CA2667172203 | HGD | c.343-1_348del c.220-1_225del n.451-1_456del c.-81-1_-76del | gnomAD v4 |
3 | g.120650861A= | CA1397098585 | HGD | c.347T= (p.Leu116=) c.224T= (p.Leu75=) n.455T= c.-77T= (n.-77T=) | |
3 | g.120650861A>C | CA354078152 | HGD | c.347T>G (p.Leu116Arg) c.224T>G (p.Leu75Arg) n.455T>G c.-77T>G (n.-77T>G) | |
3 | g.120650861A>G | CA2560232 | HGD | c.347T>C (p.Leu116Pro) c.224T>C (p.Leu75Pro) n.455T>C c.-77T>C (n.-77T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650861A>T | CA354078153 | HGD | c.347T>A (p.Leu116Gln) c.224T>A (p.Leu75Gln) n.455T>A c.-77T>A (n.-77T>A) | |
3 | g.120650861_120650862delinsAG | CA1397098584 | HGD | c.346_347delinsCT (p.Leu116=) c.223_224delinsCT (p.Leu75=) n.454_455delinsCT c.-78_-77delinsCT (n.-78_-77delinsCT) | |
3 | g.120650862G>A | CA435228435 | HGD | c.346C>T (p.Leu116=) c.223C>T (p.Leu75=) n.454C>T c.-78C>T (n.-78C>T) | |
3 | g.120650862G>C | CA354078154 | HGD | c.346C>G (p.Leu116Val) c.223C>G (p.Leu75Val) n.454C>G c.-78C>G (n.-78C>G) | |
3 | g.120650862G>T | CA354078155 | HGD | c.346C>A (p.Leu116Met) c.223C>A (p.Leu75Met) n.454C>A c.-78C>A (n.-78C>A) | |
3 | g.120650863del | CA16040894 | HGD | c.346del (p.Leu116CysfsTer10) c.223del (p.Leu75CysfsTer10) n.454del c.-78del (n.-78del) | ClinVar dbSNP |
3 | g.120650863G>A | CA435228439 | HGD | c.345C>T (p.Gly115=) c.222C>T (p.Gly74=) n.453C>T c.-79C>T (n.-79C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120650863G>C | CA435228440 | HGD | c.345C>G (p.Gly115=) c.222C>G (p.Gly74=) n.453C>G c.-79C>G (n.-79C>G) | |
3 | g.120650863G= | CA1397098586 | HGD | c.345C= (p.Gly115=) c.222C= (p.Gly74=) n.453C= c.-79C= (n.-79C=) | |
3 | g.120650863G>T | CA435228441 | HGD | c.345C>A (p.Gly115=) c.222C>A (p.Gly74=) n.453C>A c.-79C>A (n.-79C>A) | |
3 | g.120650864C>A | CA354078156 | HGD | c.344G>T (p.Gly115Val) c.221G>T (p.Gly74Val) n.452G>T c.-80G>T (n.-80G>T) | |
3 | g.120650864C>G | CA354078157 | HGD | c.344G>C (p.Gly115Ala) c.221G>C (p.Gly74Ala) n.452G>C c.-80G>C (n.-80G>C) | |
3 | g.120650864C>T | CA354078158 | HGD | c.344G>A (p.Gly115Asp) c.221G>A (p.Gly74Asp) n.452G>A c.-80G>A (n.-80G>A) | |
3 | g.120650865C>A | CA354078159 | HGD | c.343G>T (p.Gly115Cys) c.220G>T (p.Gly74Cys) n.451G>T c.-81G>T (n.-81G>T) | |
3 | g.120650865C= | CA1397098587 | HGD | c.343G= (p.Gly115=) c.220G= (p.Gly74=) n.451G= c.-81G= (n.-81G=) | |
3 | g.120650865C>G | CA2560233 | HGD | c.343G>C (p.Gly115Arg) c.220G>C (p.Gly74Arg) n.451G>C c.-81G>C (n.-81G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650865C>T | CA354078160 | HGD | c.343G>A (p.Gly115Ser) c.220G>A (p.Gly74Ser) n.451G>A c.-81G>A (n.-81G>A) | gnomAD v4 |
3 | g.120650866C>A | CA354078161 | HGD | c.343-1G>T (n.343-1G>T) c.220-1G>T (n.220-1G>T) n.451-1G>T c.-81-1G>T (n.-81-1G>T) | |
3 | g.120650866C>G | CA354078162 | HGD | c.343-1G>C (n.343-1G>C) c.220-1G>C (n.220-1G>C) n.451-1G>C c.-81-1G>C (n.-81-1G>C) | |
3 | g.120650866C>T | CA354078163 | HGD | c.343-1G>A (n.343-1G>A) c.220-1G>A (n.220-1G>A) n.451-1G>A c.-81-1G>A (n.-81-1G>A) | |
3 | g.120650867T>A | CA354078166 | HGD | c.343-2A>T (n.343-2A>T) c.220-2A>T (n.220-2A>T) n.451-2A>T c.-81-2A>T (n.-81-2A>T) | |
3 | g.120650867T>C | CA354078164 | HGD | c.343-2A>G (n.343-2A>G) c.220-2A>G (n.220-2A>G) n.451-2A>G c.-81-2A>G (n.-81-2A>G) | |
3 | g.120650867T>G | CA354078165 | HGD | c.343-2A>C (n.343-2A>C) c.220-2A>C (n.220-2A>C) n.451-2A>C c.-81-2A>C (n.-81-2A>C) | |
3 | g.120650870G>A | CA2560234 | HGD | c.343-5C>T (n.343-5C>T) c.220-5C>T (n.220-5C>T) n.451-5C>T c.-81-5C>T (n.-81-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650870G= | CA1397098588 | HGD | c.343-5C= (n.343-5C=) c.220-5C= (n.220-5C=) n.451-5C= c.-81-5C= (n.-81-5C=) | |
3 | g.120650871A= | CA1397098589 | HGD | c.343-6T= (n.343-6T=) c.220-6T= (n.220-6T=) n.451-6T= c.-81-6T= (n.-81-6T=) | |
3 | g.120650871A>G | CA2560235 | HGD | c.343-6T>C (n.343-6T>C) c.220-6T>C (n.220-6T>C) n.451-6T>C c.-81-6T>C (n.-81-6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120650871A>T | CA2560236 | HGD | c.343-6T>A (n.343-6T>A) c.220-6T>A (n.220-6T>A) n.451-6T>A c.-81-6T>A (n.-81-6T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650872G>A | CA2667172204 | HGD | c.343-7C>T (n.343-7C>T) c.220-7C>T (n.220-7C>T) n.451-7C>T c.-81-7C>T (n.-81-7C>T) | gnomAD v4 |
3 | g.120650873A>G | CA2667172205 | HGD | c.343-8T>C (n.343-8T>C) c.220-8T>C (n.220-8T>C) n.451-8T>C c.-81-8T>C (n.-81-8T>C) | gnomAD v4 |