| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109561041_109561105del | CA278555 | MMAB | c.520_584del c.*85_*149del c.364_428del c.745_809del (n.745_809del) c.*401_*465del n.680_744del c.365_429del c.247_311del c.244_308del n.631_695del | |
| 12 | g.109561056_109561070dup | CA312722 | MMAB | c.563_577dup (p.Ala192_Glu193insValCysArgArgAla) c.*128_*142dup (n.*128_*142dup) c.407_421dup (p.Ala140_Glu141insValCysArgArgAla) c.788_802dup (n.788_802dup) c.*444_*458dup (n.*444_*458dup) n.723_737dup c.408_422dup (p.Arg141_Glu142insValProProGlyArg) c.290_304dup (p.Ala101_Glu102insValCysArgArgAla) c.287_301dup (p.Ala100_Glu101insValCysArgArgAla) n.674_688dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109561056_109561070del | CA2062448111 | MMAB | c.563_577del (p.Val188_Ala192del) c.*128_*142del (n.*128_*142del) c.407_421del (p.Val136_Ala140del) c.788_802del (n.788_802del) c.*444_*458del (n.*444_*458del) n.723_737del c.408_422del (p.Val137_Arg141del) c.290_304del (p.Val97_Ala101del) c.287_301del (p.Val96_Ala100del) n.674_688del | ClinVar dbSNP gnomAD v4 |
| 12 | g.109561053_109561079delinsGGCGGCACACGGCCCGGCAGAAATGCA | CA2062448144 | MMAB | c.545_571delinsTGCATTTCTGCCGGGCCGTGTGCCGCC (p.Leu182=) c.*110_*136delinsTGCATTTCTGCCGGGCCGTGTGCCGCC (n.*110_*136delinsTGCATTTCTGCCGGGCCGTGTGCCGCC) c.389_415delinsTGCATTTCTGCCGGGCCGTGTGCCGCC (p.Leu130=) c.770_796delinsTGCATTTCTGCCGGGCCGTGTGCCGCC (n.770_796delinsTGCATTTCTGCCGGGCCGTGTGCCGCC) c.*426_*452delinsTGCATTTCTGCCGGGCCGTGTGCCGCC (n.*426_*452delinsTGCATTTCTGCCGGGCCGTGTGCCGCC) n.705_731delinsTGCATTTCTGCCGGGCCGTGTGCCGCC c.390_416delinsTGCATTTCTGCCGGGCCGTGTGCCGCC (p.Ala130=) c.272_298delinsTGCATTTCTGCCGGGCCGTGTGCCGCC (p.Leu91=) c.269_295delinsTGCATTTCTGCCGGGCCGTGTGCCGCC (p.Leu90=) n.656_682delinsTGCATTTCTGCCGGGCCGTGTGCCGCC | |
| 12 | g.109561057_109561082del | CA607285581 | MMAB | c.545_570del (p.Leu182ProfsTer28) c.*110_*135del (n.*110_*135del) c.389_414del (p.Leu130ProfsTer28) c.770_795del (n.770_795del) c.*426_*451del (n.*426_*451del) n.705_730del c.390_415del (p.Ala131GlyfsTer23) c.272_297del (p.Leu91ProfsTer28) c.269_294del (p.Leu90ProfsTer28) c.545_570del (p.Leu182ProfsTer?) n.656_681del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109561066_109561070dup | CA2062448178 | MMAB | c.558_562dup (p.Val188GlyfsTer28) c.*123_*127dup (n.*123_*127dup) c.402_406dup (p.Val136GlyfsTer28) c.783_787dup (n.783_787dup) c.*439_*443dup (n.*439_*443dup) n.718_722dup c.403_407dup (p.Val137AlafsTer?) c.285_289dup (p.Val97GlyfsTer28) c.282_286dup (p.Val96GlyfsTer28) n.669_673dup | dbSNP |
| 12 | g.109561062_109561071delinsCGGCCCGGCA | CA2062448181 | MMAB | c.553_562delinsTGCCGGGCCG (p.Cys185=) c.*118_*127delinsTGCCGGGCCG (n.*118_*127delinsTGCCGGGCCG) c.397_406delinsTGCCGGGCCG (p.Cys133=) c.778_787delinsTGCCGGGCCG (n.778_787delinsTGCCGGGCCG) c.*434_*443delinsTGCCGGGCCG (n.*434_*443delinsTGCCGGGCCG) n.713_722delinsTGCCGGGCCG c.398_407delinsTGCCGGGCCG (p.Leu133=) c.280_289delinsTGCCGGGCCG (p.Cys94=) c.277_286delinsTGCCGGGCCG (p.Cys93=) n.664_673delinsTGCCGGGCCG | |
| 12 | g.109561063G>A | CA6778829 | MMAB | c.561C>T (p.Ala187=) c.*126C>T (n.*126C>T) c.405C>T (p.Ala135=) c.786C>T (n.786C>T) c.*442C>T (n.*442C>T) n.721C>T c.406C>T (p.Arg136Cys) c.288C>T (p.Ala96=) c.285C>T (p.Ala95=) n.672C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109561063G>C | CA6778830 | MMAB | c.561C>G (p.Ala187=) c.*126C>G (n.*126C>G) c.405C>G (p.Ala135=) c.786C>G (n.786C>G) c.*442C>G (n.*442C>G) n.721C>G c.406C>G (p.Arg136Gly) c.288C>G (p.Ala96=) c.285C>G (p.Ala95=) n.672C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109561063G= | CA2062448187 | MMAB | c.561C= (p.Ala187=) c.*126C= (n.*126C=) c.405C= (p.Ala135=) c.786C= (n.786C=) c.*442C= (n.*442C=) n.721C= c.406C= (p.Arg136=) c.288C= (p.Ala96=) c.285C= (p.Ala95=) n.672C= | |
| 12 | g.109561063G>T | CA481711144 | MMAB | c.561C>A (p.Ala187=) c.*126C>A (n.*126C>A) c.405C>A (p.Ala135=) c.786C>A (n.786C>A) c.*442C>A (n.*442C>A) n.721C>A c.406C>A (p.Arg136Ser) c.288C>A (p.Ala96=) c.285C>A (p.Ala95=) n.672C>A | gnomAD v4 |
| 12 | g.109561064_109561072del | CA607285582 | MMAB | c.553_561del (p.Cys185_Ala187del) c.*118_*126del (n.*118_*126del) c.397_405del (p.Cys133_Ala135del) c.778_786del (n.778_786del) c.*434_*442del (n.*434_*442del) n.713_721del c.398_406del (p.Leu133_Gly135del) c.280_288del (p.Cys94_Ala96del) c.277_285del (p.Cys93_Ala95del) n.664_672del | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109561064G>A | CA386636877 | MMAB | c.560C>T (p.Ala187Val) c.*125C>T (n.*125C>T) c.404C>T (p.Ala135Val) c.785C>T (n.785C>T) c.*441C>T (n.*441C>T) n.720C>T c.405C>T (p.Gly135=) c.287C>T (p.Ala96Val) c.284C>T (p.Ala95Val) n.671C>T | |
| 12 | g.109561064G>C | CA386636879 | MMAB | c.560C>G (p.Ala187Gly) c.*125C>G (n.*125C>G) c.404C>G (p.Ala135Gly) c.785C>G (n.785C>G) c.*441C>G (n.*441C>G) n.720C>G c.405C>G (p.Gly135=) c.287C>G (p.Ala96Gly) c.284C>G (p.Ala95Gly) n.671C>G | |
| 12 | g.109561064G= | CA2062448193 | MMAB | c.560C= (p.Ala187=) c.*125C= (n.*125C=) c.404C= (p.Ala135=) c.785C= (n.785C=) c.*441C= (n.*441C=) n.720C= c.405C= (p.Gly135=) c.287C= (p.Ala96=) c.284C= (p.Ala95=) n.671C= | |
| 12 | g.109561064G>T | CA386636880 | MMAB | c.560C>A (p.Ala187Asp) c.*125C>A (n.*125C>A) c.404C>A (p.Ala135Asp) c.785C>A (n.785C>A) c.*441C>A (n.*441C>A) n.720C>A c.405C>A (p.Gly135=) c.287C>A (p.Ala96Asp) c.284C>A (p.Ala95Asp) n.671C>A | dbSNP gnomAD v4 |
| 12 | g.109561068_109561069insTGCCGCCCG | CA2499221417 | MMAB | c.560_561insGGCACGGGC (p.Ala187_Val188insAlaArgAla) c.*125_*126insGGCACGGGC (n.*125_*126insGGCACGGGC) c.404_405insGGCACGGGC (p.Ala135_Val136insAlaArgAla) c.785_786insGGCACGGGC (n.785_786insGGCACGGGC) c.*441_*442insGGCACGGGC (n.*441_*442insGGCACGGGC) n.720_721insGGCACGGGC c.405_406insGGCACGGGC (p.Gly135_Arg136insGlyThrGly) c.287_288insGGCACGGGC (p.Ala96_Val97insAlaArgAla) c.284_285insGGCACGGGC (p.Ala95_Val96insAlaArgAla) n.671_672insGGCACGGGC | ClinVar dbSNP gnomAD v4 |
| 12 | g.109561065C>A | CA386636892 | MMAB | c.559G>T (p.Ala187Ser) c.*124G>T (n.*124G>T) c.403G>T (p.Ala135Ser) c.784G>T (n.784G>T) c.*440G>T (n.*440G>T) n.719G>T c.404G>T (p.Gly135Val) c.286G>T (p.Ala96Ser) c.283G>T (p.Ala95Ser) n.670G>T | |
| 12 | g.109561065C>G | CA386636889 | MMAB | c.559G>C (p.Ala187Pro) c.*124G>C (n.*124G>C) c.403G>C (p.Ala135Pro) c.784G>C (n.784G>C) c.*440G>C (n.*440G>C) n.719G>C c.404G>C (p.Gly135Ala) c.286G>C (p.Ala96Pro) c.283G>C (p.Ala95Pro) n.670G>C | |
| 12 | g.109561065C>T | CA386636884 | MMAB | c.559G>A (p.Ala187Thr) c.*124G>A (n.*124G>A) c.403G>A (p.Ala135Thr) c.784G>A (n.784G>A) c.*440G>A (n.*440G>A) n.719G>A c.404G>A (p.Gly135Asp) c.286G>A (p.Ala96Thr) c.283G>A (p.Ala95Thr) n.670G>A | gnomAD v4 |
| 12 | g.109561065_109561066delinsG | CA2499221418 | MMAB | c.558_559delinsC (p.Ala187ProfsTer27) c.*123_*124delinsC (n.*123_*124delinsC) c.402_403delinsC (p.Ala135ProfsTer27) c.783_784delinsC (n.783_784delinsC) c.*439_*440delinsC (n.*439_*440delinsC) n.718_719delinsC c.403_404delinsC (p.Gly135ProfsTer?) c.285_286delinsC (p.Ala96ProfsTer27) c.282_283delinsC (p.Ala95ProfsTer27) n.669_670delinsC | ClinVar dbSNP |
| 12 | g.109561066C>A | CA481711160 | MMAB | c.558G>T (p.Arg186=) c.*123G>T (n.*123G>T) c.402G>T (p.Arg134=) c.783G>T (n.783G>T) c.*439G>T (n.*439G>T) n.718G>T c.403G>T (p.Gly135Cys) c.285G>T (p.Arg95=) c.282G>T (p.Arg94=) n.669G>T | |
| 12 | g.109561066C= | CA2062448196 | MMAB | c.558G= (p.Arg186=) c.*123G= (n.*123G=) c.402G= (p.Arg134=) c.783G= (n.783G=) c.*439G= (n.*439G=) n.718G= c.403G= (p.Gly135=) c.285G= (p.Arg95=) c.282G= (p.Arg94=) n.669G= | |
| 12 | g.109561066C>G | CA6778831 | MMAB | c.558G>C (p.Arg186=) c.*123G>C (n.*123G>C) c.402G>C (p.Arg134=) c.783G>C (n.783G>C) c.*439G>C (n.*439G>C) n.718G>C c.403G>C (p.Gly135Arg) c.285G>C (p.Arg95=) c.282G>C (p.Arg94=) n.669G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109561066C>T | CA481711164 | MMAB | c.558G>A (p.Arg186=) c.*123G>A (n.*123G>A) c.402G>A (p.Arg134=) c.783G>A (n.783G>A) c.*439G>A (n.*439G>A) n.718G>A c.403G>A (p.Gly135Ser) c.285G>A (p.Arg95=) c.282G>A (p.Arg94=) n.669G>A | gnomAD v4 |
| 12 | g.109561067C>A | CA386636900 | MMAB | c.557G>T (p.Arg186Leu) c.*122G>T (n.*122G>T) c.401G>T (p.Arg134Leu) c.782G>T (n.782G>T) c.*438G>T (n.*438G>T) n.717G>T c.402G>T (p.Pro134=) c.284G>T (p.Arg95Leu) c.281G>T (p.Arg94Leu) n.668G>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109561067C= | CA2062448200 | MMAB | c.557G= (p.Arg186=) c.*122G= (n.*122G=) c.401G= (p.Arg134=) c.782G= (n.782G=) c.*438G= (n.*438G=) n.717G= c.402G= (p.Pro134=) c.284G= (p.Arg95=) c.281G= (p.Arg94=) n.668G= | |
| 12 | g.109561067C>G | CA386636903 | MMAB | c.557G>C (p.Arg186Pro) c.*122G>C (n.*122G>C) c.401G>C (p.Arg134Pro) c.782G>C (n.782G>C) c.*438G>C (n.*438G>C) n.717G>C c.402G>C (p.Pro134=) c.284G>C (p.Arg95Pro) c.281G>C (p.Arg94Pro) n.668G>C | ClinVar gnomAD v4 |
| 12 | g.109561067C>T | CA6778832 | MMAB | c.557G>A (p.Arg186Gln) c.*122G>A (n.*122G>A) c.401G>A (p.Arg134Gln) c.782G>A (n.782G>A) c.*438G>A (n.*438G>A) n.717G>A c.402G>A (p.Pro134=) c.284G>A (p.Arg95Gln) c.281G>A (p.Arg94Gln) n.668G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109561068G>A | CA312714 | MMAB | c.556C>T (p.Arg186Trp) c.*121C>T (n.*121C>T) c.400C>T (p.Arg134Trp) c.781C>T (n.781C>T) c.*437C>T (n.*437C>T) n.716C>T c.401C>T (p.Pro134Leu) c.283C>T (p.Arg95Trp) c.280C>T (p.Arg94Trp) n.667C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109561068G>C | CA386636913 | MMAB | c.556C>G (p.Arg186Gly) c.*121C>G (n.*121C>G) c.400C>G (p.Arg134Gly) c.781C>G (n.781C>G) c.*437C>G (n.*437C>G) n.716C>G c.401C>G (p.Pro134Arg) c.283C>G (p.Arg95Gly) c.280C>G (p.Arg94Gly) n.667C>G | ClinVar |
| 12 | g.109561068G= | CA2062448209 | MMAB | c.556C= (p.Arg186=) c.*121C= (n.*121C=) c.400C= (p.Arg134=) c.781C= (n.781C=) c.*437C= (n.*437C=) n.716C= c.401C= (p.Pro134=) c.283C= (p.Arg95=) c.280C= (p.Arg94=) n.667C= | |
| 12 | g.109561068G>T | CA481711176 | MMAB | c.556C>A (p.Arg186=) c.*121C>A (n.*121C>A) c.400C>A (p.Arg134=) c.781C>A (n.781C>A) c.*437C>A (n.*437C>A) n.716C>A c.401C>A (p.Pro134Gln) c.283C>A (p.Arg95=) c.280C>A (p.Arg94=) n.667C>A | ClinVar gnomAD v4 |
| 12 | g.109561069G>A | CA481711181 | MMAB | c.555C>T (p.Cys185=) c.*120C>T (n.*120C>T) c.399C>T (p.Cys133=) c.780C>T (n.780C>T) c.*436C>T (n.*436C>T) n.715C>T c.400C>T (p.Pro134Ser) c.282C>T (p.Cys94=) c.279C>T (p.Cys93=) n.666C>T | ClinVar gnomAD v4 |
| 12 | g.109561069G>C | CA386636916 | MMAB | c.555C>G (p.Cys185Trp) c.*120C>G (n.*120C>G) c.399C>G (p.Cys133Trp) c.780C>G (n.780C>G) c.*436C>G (n.*436C>G) n.715C>G c.400C>G (p.Pro134Ala) c.282C>G (p.Cys94Trp) c.279C>G (p.Cys93Trp) n.666C>G | |
| 12 | g.109561069G>T | CA386636918 | MMAB | c.555C>A (p.Cys185Ter) c.*120C>A (n.*120C>A) c.399C>A (p.Cys133Ter) c.780C>A (n.780C>A) c.*436C>A (n.*436C>A) n.715C>A c.400C>A (p.Pro134Thr) c.282C>A (p.Cys94Ter) c.279C>A (p.Cys93Ter) n.666C>A | gnomAD v4 COSMIC |
| 12 | g.109561069_109561078dup | CA2580085844 | MMAB | c.546_555dup (p.Arg186AlafsTer?) c.*111_*120dup (n.*111_*120dup) c.390_399dup (p.Arg134AlafsTer?) c.771_780dup (n.771_780dup) c.*427_*436dup (n.*427_*436dup) n.706_715dup c.391_400dup (p.Pro134ArgfsTer32) c.273_282dup (p.Arg95AlafsTer?) c.270_279dup (p.Arg94AlafsTer?) n.657_666dup | ClinVar |
| 12 | g.109561070C>A | CA386636919 | MMAB | c.554G>T (p.Cys185Phe) c.*119G>T (n.*119G>T) c.398G>T (p.Cys133Phe) c.779G>T (n.779G>T) c.*435G>T (n.*435G>T) n.714G>T c.399G>T (p.Leu133=) c.281G>T (p.Cys94Phe) c.278G>T (p.Cys93Phe) n.665G>T | dbSNP gnomAD v4 |
| 12 | g.109561070C= | CA2062448217 | MMAB | c.554G= (p.Cys185=) c.*119G= (n.*119G=) c.398G= (p.Cys133=) c.779G= (n.779G=) c.*435G= (n.*435G=) n.714G= c.399G= (p.Leu133=) c.281G= (p.Cys94=) c.278G= (p.Cys93=) n.665G= | |
| 12 | g.109561070C>G | CA386636920 | MMAB | c.554G>C (p.Cys185Ser) c.*119G>C (n.*119G>C) c.398G>C (p.Cys133Ser) c.779G>C (n.779G>C) c.*435G>C (n.*435G>C) n.714G>C c.399G>C (p.Leu133=) c.281G>C (p.Cys94Ser) c.278G>C (p.Cys93Ser) n.665G>C | |
| 12 | g.109561070C>T | CA6778833 | MMAB | c.554G>A (p.Cys185Tyr) c.*119G>A (n.*119G>A) c.398G>A (p.Cys133Tyr) c.779G>A (n.779G>A) c.*435G>A (n.*435G>A) n.714G>A c.399G>A (p.Leu133=) c.281G>A (p.Cys94Tyr) c.278G>A (p.Cys93Tyr) n.665G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109561071_109561084dup | CA2695199170 | MMAB | c.541_554dup (p.Cys185TrpfsTer34) c.*106_*119dup (n.*106_*119dup) c.385_398dup (p.Cys133TrpfsTer34) c.766_779dup (n.766_779dup) c.*422_*435dup (n.*422_*435dup) n.701_714dup c.386_399dup (p.Pro134AlafsTer?) c.268_281dup (p.Cys94TrpfsTer34) c.265_278dup (p.Cys93TrpfsTer34) n.652_665dup | ClinVar |
| 12 | g.109561071A>C | CA386636923 | MMAB | c.553T>G (p.Cys185Gly) c.*118T>G (n.*118T>G) c.397T>G (p.Cys133Gly) c.778T>G (n.778T>G) c.*434T>G (n.*434T>G) n.713T>G c.398T>G (p.Leu133Arg) c.280T>G (p.Cys94Gly) c.277T>G (p.Cys93Gly) n.664T>G | |
| 12 | g.109561071A>G | CA386636928 | MMAB | c.553T>C (p.Cys185Arg) c.*118T>C (n.*118T>C) c.397T>C (p.Cys133Arg) c.778T>C (n.778T>C) c.*434T>C (n.*434T>C) n.713T>C c.398T>C (p.Leu133Pro) c.280T>C (p.Cys94Arg) c.277T>C (p.Cys93Arg) n.664T>C | |
| 12 | g.109561071A>T | CA386636929 | MMAB | c.553T>A (p.Cys185Ser) c.*118T>A (n.*118T>A) c.397T>A (p.Cys133Ser) c.778T>A (n.778T>A) c.*434T>A (n.*434T>A) n.713T>A c.398T>A (p.Leu133Gln) c.280T>A (p.Cys94Ser) c.277T>A (p.Cys93Ser) n.664T>A | |
| 12 | g.109561072G>A | CA481711542 | MMAB | c.552C>T (p.Phe184=) c.*117C>T (n.*117C>T) c.396C>T (p.Phe132=) c.777C>T (n.777C>T) c.*433C>T (n.*433C>T) n.712C>T c.397C>T (p.Leu133=) c.279C>T (p.Phe93=) c.276C>T (p.Phe92=) n.663C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109561072G>C | CA386636930 | MMAB | c.552C>G (p.Phe184Leu) c.*117C>G (n.*117C>G) c.396C>G (p.Phe132Leu) c.777C>G (n.777C>G) c.*433C>G (n.*433C>G) n.712C>G c.397C>G (p.Leu133Val) c.279C>G (p.Phe93Leu) c.276C>G (p.Phe92Leu) n.663C>G | gnomAD v4 |
| 12 | g.109561072G= | CA2062448222 | MMAB | c.552C= (p.Phe184=) c.*117C= (n.*117C=) c.396C= (p.Phe132=) c.777C= (n.777C=) c.*433C= (n.*433C=) n.712C= c.397C= (p.Leu133=) c.279C= (p.Phe93=) c.276C= (p.Phe92=) n.663C= | |
| 12 | g.109561072G>T | CA386636932 | MMAB | c.552C>A (p.Phe184Leu) c.*117C>A (n.*117C>A) c.396C>A (p.Phe132Leu) c.777C>A (n.777C>A) c.*433C>A (n.*433C>A) n.712C>A c.397C>A (p.Leu133Met) c.279C>A (p.Phe93Leu) c.276C>A (p.Phe92Leu) n.663C>A | gnomAD v4 |
| 12 | g.109561073A>C | CA386636933 | MMAB | c.551T>G (p.Phe184Cys) c.*116T>G (n.*116T>G) c.395T>G (p.Phe132Cys) c.776T>G (n.776T>G) c.*432T>G (n.*432T>G) n.711T>G c.396T>G (p.Phe132Leu) c.278T>G (p.Phe93Cys) c.275T>G (p.Phe92Cys) n.662T>G |