Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45507549_45508213delCA2741808835MMACHCc.275_278del
c.104_107del
c.82-663_83del
1g.45508157_45508269dupCA2743432180MMACHCc.277-55_334dup
c.106-55_163dup
c.82-55_139dup
1g.45508168T>CCA2645391239MMACHCc.277-44T>C (n.277-44T>C)
c.106-44T>C (n.106-44T>C)
c.82-44T>C (n.82-44T>C)
 gnomAD v4
1g.45508169C>ACA2574352247MMACHCc.277-43C>A (n.277-43C>A)
c.106-43C>A (n.106-43C>A)
c.82-43C>A (n.82-43C>A)
1g.45508170C>ACA2645391240MMACHCc.277-42C>A (n.277-42C>A)
c.106-42C>A (n.106-42C>A)
c.82-42C>A (n.82-42C>A)
 gnomAD v4
1g.45508172C=CA1143944016MMACHCc.277-40C= (n.277-40C=)
c.106-40C= (n.106-40C=)
c.82-40C= (n.82-40C=)
1g.45508172C>TCA827687MMACHCc.277-40C>T (n.277-40C>T)
c.106-40C>T (n.106-40C>T)
c.82-40C>T (n.82-40C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508174C=CA1143451742MMACHCc.277-38C= (n.277-38C=)
c.106-38C= (n.106-38C=)
c.82-38C= (n.82-38C=)
1g.45508174C>TCA21829257MMACHCc.277-38C>T (n.277-38C>T)
c.106-38C>T (n.106-38C>T)
c.82-38C>T (n.82-38C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.45508175A>GCA2645391241MMACHCc.277-37A>G (n.277-37A>G)
c.106-37A>G (n.106-37A>G)
c.82-37A>G (n.82-37A>G)
 gnomAD v4
1g.45508176T>ACA522810645MMACHCc.277-36T>A (n.277-36T>A)
c.106-36T>A (n.106-36T>A)
c.82-36T>A (n.82-36T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.45508176T>CCA522810646MMACHCc.277-36T>C (n.277-36T>C)
c.106-36T>C (n.106-36T>C)
c.82-36T>C (n.82-36T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.45508176T>GCA1001243518MMACHCc.277-36T>G (n.277-36T>G)
c.106-36T>G (n.106-36T>G)
c.82-36T>G (n.82-36T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.45508176T=CA2473783329MMACHCc.277-36T= (n.277-36T=)
c.106-36T= (n.106-36T=)
c.82-36T= (n.82-36T=)
1g.45508177G>ACA2574352248MMACHCc.277-35G>A (n.277-35G>A)
c.106-35G>A (n.106-35G>A)
c.82-35G>A (n.82-35G>A)
 gnomAD v4
1g.45508178C=CA2473783330MMACHCc.277-34C= (n.277-34C=)
c.106-34C= (n.106-34C=)
c.82-34C= (n.82-34C=)
1g.45508178C>TCA522810647MMACHCc.277-34C>T (n.277-34C>T)
c.106-34C>T (n.106-34C>T)
c.82-34C>T (n.82-34C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508180G>ACA2645391242MMACHCc.277-32G>A (n.277-32G>A)
c.106-32G>A (n.106-32G>A)
c.82-32G>A (n.82-32G>A)
 gnomAD v4
1g.45508181A>GCA2645391243MMACHCc.277-31A>G (n.277-31A>G)
c.106-31A>G (n.106-31A>G)
c.82-31A>G (n.82-31A>G)
 gnomAD v4
1g.45508182C=CA2473783331MMACHCc.277-30C= (n.277-30C=)
c.106-30C= (n.106-30C=)
c.82-30C= (n.82-30C=)
1g.45508182C>TCA522810648MMACHCc.277-30C>T (n.277-30C>T)
c.106-30C>T (n.106-30C>T)
c.82-30C>T (n.82-30C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.45508183A=CA1143512230MMACHCc.277-29A= (n.277-29A=)
c.106-29A= (n.106-29A=)
c.82-29A= (n.82-29A=)
1g.45508183A>GCA21829258MMACHCc.277-29A>G (n.277-29A>G)
c.106-29A>G (n.106-29A>G)
c.82-29A>G (n.82-29A>G)
 dbSNP gnomAD v4
1g.45508184G>ACA2574352249MMACHCc.277-28G>A (n.277-28G>A)
c.106-28G>A (n.106-28G>A)
c.82-28G>A (n.82-28G>A)
 dbSNP gnomAD v4
1g.45508184G>CCA2645391244MMACHCc.277-28G>C (n.277-28G>C)
c.106-28G>C (n.106-28G>C)
c.82-28G>C (n.82-28G>C)
 gnomAD v4
1g.45508185T>ACA2645391245MMACHCc.277-27T>A (n.277-27T>A)
c.106-27T>A (n.106-27T>A)
c.82-27T>A (n.82-27T>A)
 gnomAD v4
1g.45508185T>CCA827688MMACHCc.277-27T>C (n.277-27T>C)
c.106-27T>C (n.106-27T>C)
c.82-27T>C (n.82-27T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508185T=CA2473783332MMACHCc.277-27T= (n.277-27T=)
c.106-27T= (n.106-27T=)
c.82-27T= (n.82-27T=)
1g.45508188C>ACA827689MMACHCc.277-24C>A (n.277-24C>A)
c.106-24C>A (n.106-24C>A)
c.82-24C>A (n.82-24C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508188C=CA2473783333MMACHCc.277-24C= (n.277-24C=)
c.106-24C= (n.106-24C=)
c.82-24C= (n.82-24C=)
1g.45508189_45508192delCA2574352250MMACHCc.277-23_277-20del (n.277-23_277-20del)
c.106-23_106-20del (n.106-23_106-20del)
c.82-23_82-20del (n.82-23_82-20del)
 gnomAD v4
1g.45508191C=CA2473783334MMACHCc.277-21C= (n.277-21C=)
c.106-21C= (n.106-21C=)
c.82-21C= (n.82-21C=)
1g.45508191C>GCA827690MMACHCc.277-21C>G (n.277-21C>G)
c.106-21C>G (n.106-21C>G)
c.82-21C>G (n.82-21C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508192T>CCA2645391246MMACHCc.277-20T>C (n.277-20T>C)
c.106-20T>C (n.106-20T>C)
c.82-20T>C (n.82-20T>C)
 ClinVar gnomAD v4
1g.45508193A=CA2473783335MMACHCc.277-19A= (n.277-19A=)
c.106-19A= (n.106-19A=)
c.82-19A= (n.82-19A=)
1g.45508193A>CCA2473783336MMACHCc.277-19A>C (n.277-19A>C)
c.106-19A>C (n.106-19A>C)
c.82-19A>C (n.82-19A>C)
 dbSNP gnomAD v4
1g.45508194T>CCA2645391248MMACHCc.277-18T>C (n.277-18T>C)
c.106-18T>C (n.106-18T>C)
c.82-18T>C (n.82-18T>C)
 gnomAD v4
1g.45508197dupCA913187007MMACHCc.277-15dup (n.277-15dup)
c.106-15dup (n.106-15dup)
c.82-15dup (n.82-15dup)
1g.45508195T=CA2473783337MMACHCc.277-17T= (n.277-17T=)
c.106-17T= (n.106-17T=)
c.82-17T= (n.82-17T=)
1g.45508195_45508196insACA2473783338MMACHCc.277-17_277-16insA (n.277-17_277-16insA)
c.106-17_106-16insA (n.106-17_106-16insA)
c.82-17_82-16insA (n.82-17_82-16insA)
 ClinVar dbSNP
1g.45508197T>CCA2574352251MMACHCc.277-15T>C (n.277-15T>C)
c.106-15T>C (n.106-15T>C)
c.82-15T>C (n.82-15T>C)
1g.45508197T>GCA2645391249MMACHCc.277-15T>G (n.277-15T>G)
c.106-15T>G (n.106-15T>G)
c.82-15T>G (n.82-15T>G)
 ClinVar gnomAD v4
1g.45508198G>ACA827691MMACHCc.277-14G>A (n.277-14G>A)
c.106-14G>A (n.106-14G>A)
c.82-14G>A (n.82-14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508198G=CA2473783339MMACHCc.277-14G= (n.277-14G=)
c.106-14G= (n.106-14G=)
c.82-14G= (n.82-14G=)
1g.45508198G>TCA736189837MMACHCc.277-14G>T (n.277-14G>T)
c.106-14G>T (n.106-14G>T)
c.82-14G>T (n.82-14G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.45508199T>CCA2739272542MMACHCc.277-13T>C (n.277-13T>C)
c.106-13T>C (n.106-13T>C)
c.82-13T>C (n.82-13T>C)
 ClinVar
1g.45508201C>TCA2645391250MMACHCc.277-11C>T (n.277-11C>T)
c.106-11C>T (n.106-11C>T)
c.82-11C>T (n.82-11C>T)
 gnomAD v4
1g.45508202A=CA2473783340MMACHCc.277-10A= (n.277-10A=)
c.106-10A= (n.106-10A=)
c.82-10A= (n.82-10A=)
1g.45508202A>CCA2580062916MMACHCc.277-10A>C (n.277-10A>C)
c.106-10A>C (n.106-10A>C)
c.82-10A>C (n.82-10A>C)
 ClinVar
1g.45508202dupCA913075127MMACHCc.277-10dup (n.277-10dup)
c.106-10dup (n.106-10dup)
c.82-10dup (n.82-10dup)
1g.45508202_45508204delinsACTCA2473783341MMACHCc.277-10_277-8delinsACT (n.277-10_277-8delinsACT)
c.106-10_106-8delinsACT (n.106-10_106-8delinsACT)
c.82-10_82-8delinsACT (n.82-10_82-8delinsACT)
1g.45508203C>TCA2739272543MMACHCc.277-9C>T (n.277-9C>T)
c.106-9C>T (n.106-9C>T)
c.82-9C>T (n.82-9C>T)
 ClinVar
1g.45508203_45508204delCA522810649MMACHCc.277-9_277-8del (n.277-9_277-8del)
c.106-9_106-8del (n.106-9_106-8del)
c.82-9_82-8del (n.82-9_82-8del)
 dbSNP gnomAD v2 gnomAD v4
1g.45508204_45508209dupCA827692MMACHCc.277-8_277-3dup (n.277-8_277-3dup)
c.106-8_106-3dup (n.106-8_106-3dup)
c.82-8_82-3dup (n.82-8_82-3dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508204T>GCA736189865MMACHCc.277-8T>G (n.277-8T>G)
c.106-8T>G (n.106-8T>G)
c.82-8T>G (n.82-8T>G)
 dbSNP
1g.45508204T=CA2473783342MMACHCc.277-8T= (n.277-8T=)
c.106-8T= (n.106-8T=)
c.82-8T= (n.82-8T=)
1g.45508205G>ACA522810650MMACHCc.277-7G>A (n.277-7G>A)
c.106-7G>A (n.106-7G>A)
c.82-7G>A (n.82-7G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508205G=CA2473783343MMACHCc.277-7G= (n.277-7G=)
c.106-7G= (n.106-7G=)
c.82-7G= (n.82-7G=)
1g.45508206T>CCA2580062917MMACHCc.277-6T>C (n.277-6T>C)
c.106-6T>C (n.106-6T>C)
c.82-6T>C (n.82-6T>C)
 ClinVar gnomAD v4
1g.45508207T>CCA21829274MMACHCc.277-5T>C (n.277-5T>C)
c.106-5T>C (n.106-5T>C)
c.82-5T>C (n.82-5T>C)
 dbSNP gnomAD v4
1g.45508207T=CA2473783344MMACHCc.277-5T= (n.277-5T=)
c.106-5T= (n.106-5T=)
c.82-5T= (n.82-5T=)
1g.45508209_45508238delCA2586966634MMACHCc.277-3_303del
c.106-3_132del
c.82-3_108del
1g.45508208C>ACA915941283MMACHCc.277-4C>A (n.277-4C>A)
c.106-4C>A (n.106-4C>A)
c.82-4C>A (n.82-4C>A)
 ClinVar dbSNP
1g.45508208C=CA1143380791MMACHCc.277-4C= (n.277-4C=)
c.106-4C= (n.106-4C=)
c.82-4C= (n.82-4C=)
1g.45508208C>GCA827693MMACHCc.277-4C>G (n.277-4C>G)
c.106-4C>G (n.106-4C>G)
c.82-4C>G (n.82-4C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508208C>TCA2645391251MMACHCc.277-4C>T (n.277-4C>T)
c.106-4C>T (n.106-4C>T)
c.82-4C>T (n.82-4C>T)
 ClinVar gnomAD v4
1g.45508209delCA2574352252MMACHCc.277-3del (n.277-3del)
c.106-3del (n.106-3del)
c.82-3del (n.82-3del)
 gnomAD v4
1g.45508215_45508224delCA21829276MMACHCc.280_289del
c.109_118del
c.85_94del
1g.45508209C>GCA2645391252MMACHCc.277-3C>G (n.277-3C>G)
c.106-3C>G (n.106-3C>G)
c.82-3C>G (n.82-3C>G)
 gnomAD v4
1g.45508210A=CA1143518869MMACHCc.277-2A= (n.277-2A=)
c.106-2A= (n.106-2A=)
c.82-2A= (n.82-2A=)
1g.45508210A>CCA340132082MMACHCc.277-2A>C (n.277-2A>C)
c.106-2A>C (n.106-2A>C)
c.82-2A>C (n.82-2A>C)
1g.45508210A>GCA827694MMACHCc.277-2A>G (n.277-2A>G)
c.106-2A>G (n.106-2A>G)
c.82-2A>G (n.82-2A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508210A>TCA340132083MMACHCc.277-2A>T (n.277-2A>T)
c.106-2A>T (n.106-2A>T)
c.82-2A>T (n.82-2A>T)
1g.45508211G>ACA340132084MMACHCc.277-1G>A (n.277-1G>A)
c.106-1G>A (n.106-1G>A)
c.82-1G>A (n.82-1G>A)
 ClinVar gnomAD v4
1g.45508211G>CCA340132085MMACHCc.277-1G>C (n.277-1G>C)
c.106-1G>C (n.106-1G>C)
c.82-1G>C (n.82-1G>C)
1g.45508211G>TCA340132086MMACHCc.277-1G>T (n.277-1G>T)
c.106-1G>T (n.106-1G>T)
c.82-1G>T (n.82-1G>T)
1g.45508212A>CCA340132087MMACHCc.277A>C (p.Ser93Arg)
c.106A>C (p.Ser36Arg)
c.82A>C (p.Ser28Arg)
1g.45508212A>GCA340132088MMACHCc.277A>G (p.Ser93Gly)
c.106A>G (p.Ser36Gly)
c.82A>G (p.Ser28Gly)
 gnomAD v4
1g.45508212A>TCA340132089MMACHCc.277A>T (p.Ser93Cys)
c.106A>T (p.Ser36Cys)
c.82A>T (p.Ser28Cys)
1g.45508213G>ACA340132092MMACHCc.278G>A (p.Ser93Asn)
c.107G>A (p.Ser36Asn)
c.83G>A (p.Ser28Asn)
1g.45508213G>CCA340132090MMACHCc.278G>C (p.Ser93Thr)
c.107G>C (p.Ser36Thr)
c.83G>C (p.Ser28Thr)
1g.45508213G>TCA340132091MMACHCc.278G>T (p.Ser93Ile)
c.107G>T (p.Ser36Ile)
c.83G>T (p.Ser28Ile)
1g.45508214C>ACA340132093MMACHCc.279C>A (p.Ser93Arg)
c.108C>A (p.Ser36Arg)
c.84C>A (p.Ser28Arg)
1g.45508214C>GCA340132094MMACHCc.279C>G (p.Ser93Arg)
c.108C>G (p.Ser36Arg)
c.84C>G (p.Ser28Arg)
1g.45508214C>TCA417705475MMACHCc.279C>T (p.Ser93=)
c.108C>T (p.Ser36=)
c.84C>T (p.Ser28=)
 gnomAD v4
1g.45508215C>ACA340132095MMACHCc.280C>A (p.Leu94Ile)
c.109C>A (p.Leu37Ile)
c.85C>A (p.Leu29Ile)
1g.45508215C>GCA340132096MMACHCc.280C>G (p.Leu94Val)
c.109C>G (p.Leu37Val)
c.85C>G (p.Leu29Val)
1g.45508215C>TCA340132097MMACHCc.280C>T (p.Leu94Phe)
c.109C>T (p.Leu37Phe)
c.85C>T (p.Leu29Phe)
 gnomAD v4
1g.45508216T>ACA340132098MMACHCc.281T>A (p.Leu94His)
c.110T>A (p.Leu37His)
c.86T>A (p.Leu29His)
1g.45508216T>CCA340132099MMACHCc.281T>C (p.Leu94Pro)
c.110T>C (p.Leu37Pro)
c.86T>C (p.Leu29Pro)
1g.45508216T>GCA340132100MMACHCc.281T>G (p.Leu94Arg)
c.110T>G (p.Leu37Arg)
c.86T>G (p.Leu29Arg)
1g.45508216_45508225delCA2739272544MMACHCc.281_290del (p.Leu94ArgfsTer3)
c.110_119del (p.Leu37ArgfsTer3)
c.86_95del (p.Leu29ArgfsTer3)
 ClinVar
1g.45508217C>ACA417705476MMACHCc.282C>A (p.Leu94=)
c.111C>A (p.Leu37=)
c.87C>A (p.Leu29=)
1g.45508217C=CA2473783345MMACHCc.282C= (p.Leu94=)
c.111C= (p.Leu37=)
c.87C= (p.Leu29=)
1g.45508217C>GCA827695MMACHCc.282C>G (p.Leu94=)
c.111C>G (p.Leu37=)
c.87C>G (p.Leu29=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508217C>TCA417705477MMACHCc.282C>T (p.Leu94=)
c.111C>T (p.Leu37=)
c.87C>T (p.Leu29=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45508219dupCA913075128MMACHCc.284dup (p.Glu96ArgfsTer9)
c.113dup (p.Glu39ArgfsTer9)
c.89dup (p.Glu31ArgfsTer9)
1g.45508218C>ACA340132101MMACHCc.283C>A (p.Pro95Thr)
c.112C>A (p.Pro38Thr)
c.88C>A (p.Pro30Thr)
1g.45508218C=CA2473783346MMACHCc.283C= (p.Pro95=)
c.112C= (p.Pro38=)
c.88C= (p.Pro30=)
1g.45508218C>GCA340132102MMACHCc.283C>G (p.Pro95Ala)
c.112C>G (p.Pro38Ala)
c.88C>G (p.Pro30Ala)
1g.45508218C>TCA340132103MMACHCc.283C>T (p.Pro95Ser)
c.112C>T (p.Pro38Ser)
c.88C>T (p.Pro30Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508219C>ACA340132106MMACHCc.284C>A (p.Pro95Gln)
c.113C>A (p.Pro38Gln)
c.89C>A (p.Pro30Gln)
1g.45508219C=CA2473783347MMACHCc.284C= (p.Pro95=)
c.113C= (p.Pro38=)
c.89C= (p.Pro30=)
1g.45508219C>GCA340132105MMACHCc.284C>G (p.Pro95Arg)
c.113C>G (p.Pro38Arg)
c.89C>G (p.Pro30Arg)
 gnomAD v4
1g.45508219C>TCA340132104MMACHCc.284C>T (p.Pro95Leu)
c.113C>T (p.Pro38Leu)
c.89C>T (p.Pro30Leu)
1g.45508220A>CCA417705478MMACHCc.285A>C (p.Pro95=)
c.114A>C (p.Pro38=)
c.90A>C (p.Pro30=)
1g.45508220A>GCA417705480MMACHCc.285A>G (p.Pro95=)
c.114A>G (p.Pro38=)
c.90A>G (p.Pro30=)
1g.45508220A>TCA417705479MMACHCc.285A>T (p.Pro95=)
c.114A>T (p.Pro38=)
c.90A>T (p.Pro30=)
1g.45508220dupCA658821022MMACHCc.285dup (p.Glu96ArgfsTer9)
c.114dup (p.Glu39ArgfsTer9)
c.90dup (p.Glu31ArgfsTer9)
 ClinVar dbSNP
1g.45508221G>ACA340132107MMACHCc.286G>A (p.Glu96Lys)
c.115G>A (p.Glu39Lys)
c.91G>A (p.Glu31Lys)
 ClinVar gnomAD v4
1g.45508221G>CCA340132109MMACHCc.286G>C (p.Glu96Gln)
c.115G>C (p.Glu39Gln)
c.91G>C (p.Glu31Gln)
1g.45508221G>TCA340132108MMACHCc.286G>T (p.Glu96Ter)
c.115G>T (p.Glu39Ter)
c.91G>T (p.Glu31Ter)
1g.45508222A>CCA340132110MMACHCc.287A>C (p.Glu96Ala)
c.116A>C (p.Glu39Ala)
c.92A>C (p.Glu31Ala)
1g.45508222A>GCA340132112MMACHCc.287A>G (p.Glu96Gly)
c.116A>G (p.Glu39Gly)
c.92A>G (p.Glu31Gly)
 gnomAD v4
1g.45508222A>TCA340132111MMACHCc.287A>T (p.Glu96Val)
c.116A>T (p.Glu39Val)
c.92A>T (p.Glu31Val)
1g.45508223G>ACA417705481MMACHCc.288G>A (p.Glu96=)
c.117G>A (p.Glu39=)
c.93G>A (p.Glu31=)
 ClinVar dbSNP
1g.45508223G>CCA340132113MMACHCc.288G>C (p.Glu96Asp)
c.117G>C (p.Glu39Asp)
c.93G>C (p.Glu31Asp)
1g.45508223G=CA2473783348MMACHCc.288G= (p.Glu96=)
c.117G= (p.Glu39=)
c.93G= (p.Glu31=)
1g.45508223G>TCA340132114MMACHCc.288G>T (p.Glu96Asp)
c.117G>T (p.Glu39Asp)
c.93G>T (p.Glu31Asp)
1g.45508224C>ACA340132115MMACHCc.289C>A (p.Leu97Met)
c.118C>A (p.Leu40Met)
c.94C>A (p.Leu32Met)
1g.45508224C>GCA340132116MMACHCc.289C>G (p.Leu97Val)
c.118C>G (p.Leu40Val)
c.94C>G (p.Leu32Val)
1g.45508224C>TCA417705482MMACHCc.289C>T (p.Leu97=)
c.118C>T (p.Leu40=)
c.94C>T (p.Leu32=)
 gnomAD v4
1g.45508225T>ACA340132117MMACHCc.290T>A (p.Leu97Gln)
c.119T>A (p.Leu40Gln)
c.95T>A (p.Leu32Gln)
1g.45508225T>CCA340132118MMACHCc.290T>C (p.Leu97Pro)
c.119T>C (p.Leu40Pro)
c.95T>C (p.Leu32Pro)
1g.45508225T>GCA340132119MMACHCc.290T>G (p.Leu97Arg)
c.119T>G (p.Leu40Arg)
c.95T>G (p.Leu32Arg)
1g.45508226G>ACA21829286MMACHCc.291G>A (p.Leu97=)
c.120G>A (p.Leu40=)
c.96G>A (p.Leu32=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508226G>CCA417705483MMACHCc.291G>C (p.Leu97=)
c.120G>C (p.Leu40=)
c.96G>C (p.Leu32=)
1g.45508226G=CA1147214759MMACHCc.291G= (p.Leu97=)
c.120G= (p.Leu40=)
c.96G= (p.Leu32=)
1g.45508226G>TCA417705484MMACHCc.291G>T (p.Leu97=)
c.120G>T (p.Leu40=)
c.96G>T (p.Leu32=)
1g.45508227C>ACA340132120MMACHCc.292C>A (p.Gln98Lys)
c.121C>A (p.Gln41Lys)
c.97C>A (p.Gln33Lys)
1g.45508227C=CA2473783349MMACHCc.292C= (p.Gln98=)
c.121C= (p.Gln41=)
c.97C= (p.Gln33=)
1g.45508227C>GCA340132121MMACHCc.292C>G (p.Gln98Glu)
c.121C>G (p.Gln41Glu)
c.97C>G (p.Gln33Glu)
1g.45508227C>TCA827696MMACHCc.292C>T (p.Gln98Ter)
c.121C>T (p.Gln41Ter)
c.97C>T (p.Gln33Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508228A>CCA340132122MMACHCc.293A>C (p.Gln98Pro)
c.122A>C (p.Gln41Pro)
c.98A>C (p.Gln33Pro)
1g.45508228A>GCA340132124MMACHCc.293A>G (p.Gln98Arg)
c.122A>G (p.Gln41Arg)
c.98A>G (p.Gln33Arg)
1g.45508228A>TCA340132123MMACHCc.293A>T (p.Gln98Leu)
c.122A>T (p.Gln41Leu)
c.98A>T (p.Gln33Leu)
1g.45508229G>ACA417705485MMACHCc.294G>A (p.Gln98=)
c.123G>A (p.Gln41=)
c.99G>A (p.Gln33=)
1g.45508229G>CCA340132125MMACHCc.294G>C (p.Gln98His)
c.123G>C (p.Gln41His)
c.99G>C (p.Gln33His)
1g.45508229G>TCA340132126MMACHCc.294G>T (p.Gln98His)
c.123G>T (p.Gln41His)
c.99G>T (p.Gln33His)
1g.45508230A>CCA340132127MMACHCc.295A>C (p.Ile99Leu)
c.124A>C (p.Ile42Leu)
c.100A>C (p.Ile34Leu)
1g.45508230A>GCA340132128MMACHCc.295A>G (p.Ile99Val)
c.124A>G (p.Ile42Val)
c.100A>G (p.Ile34Val)
1g.45508230A>TCA340132129MMACHCc.295A>T (p.Ile99Leu)
c.124A>T (p.Ile42Leu)
c.100A>T (p.Ile34Leu)
1g.45508231T>ACA340132130MMACHCc.296T>A (p.Ile99Lys)
c.125T>A (p.Ile42Lys)
c.101T>A (p.Ile34Lys)
 gnomAD v4
1g.45508231T>CCA827697MMACHCc.296T>C (p.Ile99Thr)
c.125T>C (p.Ile42Thr)
c.101T>C (p.Ile34Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508231T>GCA340132131MMACHCc.296T>G (p.Ile99Arg)
c.125T>G (p.Ile42Arg)
c.101T>G (p.Ile34Arg)
1g.45508231T=CA1143715737MMACHCc.296T= (p.Ile99=)
c.125T= (p.Ile42=)
c.101T= (p.Ile34=)
1g.45508232A>CCA417705486MMACHCc.297A>C (p.Ile99=)
c.126A>C (p.Ile42=)
c.102A>C (p.Ile34=)
 ClinVar
1g.45508232A>GCA340132132MMACHCc.297A>G (p.Ile99Met)
c.126A>G (p.Ile42Met)
c.102A>G (p.Ile34Met)
 gnomAD v4
1g.45508232A>TCA417705487MMACHCc.297A>T (p.Ile99=)
c.126A>T (p.Ile42=)
c.102A>T (p.Ile34=)
1g.45508233G>ACA340132134MMACHCc.298G>A (p.Glu100Lys)
c.127G>A (p.Glu43Lys)
c.103G>A (p.Glu35Lys)
1g.45508233G>CCA340132135MMACHCc.298G>C (p.Glu100Gln)
c.127G>C (p.Glu43Gln)
c.103G>C (p.Glu35Gln)
1g.45508233G>TCA340132133MMACHCc.298G>T (p.Glu100Ter)
c.127G>T (p.Glu43Ter)
c.103G>T (p.Glu35Ter)
1g.45508234A>CCA340132136MMACHCc.299A>C (p.Glu100Ala)
c.128A>C (p.Glu43Ala)
c.104A>C (p.Glu35Ala)
1g.45508234A>GCA340132137MMACHCc.299A>G (p.Glu100Gly)
c.128A>G (p.Glu43Gly)
c.104A>G (p.Glu35Gly)
1g.45508234A>TCA340132138MMACHCc.299A>T (p.Glu100Val)
c.128A>T (p.Glu43Val)
c.104A>T (p.Glu35Val)
1g.45508235A>CCA340132139MMACHCc.300A>C (p.Glu100Asp)
c.129A>C (p.Glu43Asp)
c.105A>C (p.Glu35Asp)
1g.45508235A>GCA417705488MMACHCc.300A>G (p.Glu100=)
c.129A>G (p.Glu43=)
c.105A>G (p.Glu35=)
1g.45508235A>TCA340132140MMACHCc.300A>T (p.Glu100Asp)
c.129A>T (p.Glu43Asp)
c.105A>T (p.Glu35Asp)
1g.45508236A>CCA340132141MMACHCc.301A>C (p.Ile101Leu)
c.130A>C (p.Ile44Leu)
c.106A>C (p.Ile36Leu)
1g.45508236A>GCA340132142MMACHCc.301A>G (p.Ile101Val)
c.130A>G (p.Ile44Val)
c.106A>G (p.Ile36Val)
 COSMIC
1g.45508236A>TCA340132143MMACHCc.301A>T (p.Ile101Phe)
c.130A>T (p.Ile44Phe)
c.106A>T (p.Ile36Phe)
1g.45508237T>ACA340132144MMACHCc.302T>A (p.Ile101Asn)
c.131T>A (p.Ile44Asn)
c.107T>A (p.Ile36Asn)
1g.45508237T>CCA340132145MMACHCc.302T>C (p.Ile101Thr)
c.131T>C (p.Ile44Thr)
c.107T>C (p.Ile36Thr)
1g.45508237T>GCA340132146MMACHCc.302T>G (p.Ile101Ser)
c.131T>G (p.Ile44Ser)
c.107T>G (p.Ile36Ser)
1g.45508238C>ACA417705489MMACHCc.303C>A (p.Ile101=)
c.132C>A (p.Ile44=)
c.108C>A (p.Ile36=)
 gnomAD v4
1g.45508238C>GCA340132147MMACHCc.303C>G (p.Ile101Met)
c.132C>G (p.Ile44Met)
c.108C>G (p.Ile36Met)
1g.45508238C>TCA417705490MMACHCc.303C>T (p.Ile101=)
c.132C>T (p.Ile44=)
c.108C>T (p.Ile36=)
1g.45508239A=CA2473783350MMACHCc.304A= (p.Ile102=)
c.133A= (p.Ile45=)
c.109A= (p.Ile37=)
1g.45508239A>CCA340132149MMACHCc.304A>C (p.Ile102Leu)
c.133A>C (p.Ile45Leu)
c.109A>C (p.Ile37Leu)
1g.45508239A>GCA827698MMACHCc.304A>G (p.Ile102Val)
c.133A>G (p.Ile45Val)
c.109A>G (p.Ile37Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508239A>TCA340132148MMACHCc.304A>T (p.Ile102Phe)
c.133A>T (p.Ile45Phe)
c.109A>T (p.Ile37Phe)
1g.45508240T>ACA340132150MMACHCc.305T>A (p.Ile102Asn)
c.134T>A (p.Ile45Asn)
c.110T>A (p.Ile37Asn)
1g.45508240T>CCA340132151MMACHCc.305T>C (p.Ile102Thr)
c.134T>C (p.Ile45Thr)
c.110T>C (p.Ile37Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.45508240T>GCA340132152MMACHCc.305T>G (p.Ile102Ser)
c.134T>G (p.Ile45Ser)
c.110T>G (p.Ile37Ser)
1g.45508240T=CA2473783351MMACHCc.305T= (p.Ile102=)
c.134T= (p.Ile45=)
c.110T= (p.Ile37=)
1g.45508241T>ACA417705491MMACHCc.306T>A (p.Ile102=)
c.135T>A (p.Ile45=)
c.111T>A (p.Ile37=)
1g.45508241T>CCA417705492MMACHCc.306T>C (p.Ile102=)
c.135T>C (p.Ile45=)
c.111T>C (p.Ile37=)
1g.45508241T>GCA340132153MMACHCc.306T>G (p.Ile102Met)
c.135T>G (p.Ile45Met)
c.111T>G (p.Ile37Met)
1g.45508242G>ACA340132154MMACHCc.307G>A (p.Ala103Thr)
c.136G>A (p.Ala46Thr)
c.112G>A (p.Ala38Thr)
1g.45508242G>CCA340132155MMACHCc.307G>C (p.Ala103Pro)
c.136G>C (p.Ala46Pro)
c.112G>C (p.Ala38Pro)
1g.45508242G>TCA340132156MMACHCc.307G>T (p.Ala103Ser)
c.136G>T (p.Ala46Ser)
c.112G>T (p.Ala38Ser)
1g.45508242_45508246delCA913075129MMACHCc.307_311del (p.Ala103LeufsTer?)
c.136_140del (p.Ala46LeufsTer?)
c.112_116del (p.Ala38LeufsTer?)
1g.45508242_45508246delinsGCTGACA2473783352MMACHCc.307_311delinsGCTGA (p.Ala103=)
c.136_140delinsGCTGA (p.Ala46=)
c.112_116delinsGCTGA (p.Ala38=)
1g.45508243C>ACA340132157MMACHCc.308C>A (p.Ala103Asp)
c.137C>A (p.Ala46Asp)
c.113C>A (p.Ala38Asp)
1g.45508243C>GCA340132158MMACHCc.308C>G (p.Ala103Gly)
c.137C>G (p.Ala46Gly)
c.113C>G (p.Ala38Gly)
1g.45508243C>TCA340132159MMACHCc.308C>T (p.Ala103Val)
c.137C>T (p.Ala46Val)
c.113C>T (p.Ala38Val)
1g.45508245_45508248delCA658821023MMACHCc.310_313del (p.Asp104ThrfsTer19)
c.139_142del (p.Asp47ThrfsTer19)
c.115_118del (p.Asp39ThrfsTer19)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45508244T>ACA417705493MMACHCc.309T>A (p.Ala103=)
c.138T>A (p.Ala46=)
c.114T>A (p.Ala38=)
1g.45508244T>CCA417705494MMACHCc.309T>C (p.Ala103=)
c.138T>C (p.Ala46=)
c.114T>C (p.Ala38=)
1g.45508244T>GCA417705495MMACHCc.309T>G (p.Ala103=)
c.138T>G (p.Ala46=)
c.114T>G (p.Ala38=)
1g.45508245G>ACA827699MMACHCc.310G>A (p.Asp104Asn)
c.139G>A (p.Asp47Asn)
c.115G>A (p.Asp39Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508245G>CCA340132160MMACHCc.310G>C (p.Asp104His)
c.139G>C (p.Asp47His)
c.115G>C (p.Asp39His)
1g.45508245G=CA2473783353MMACHCc.310G= (p.Asp104=)
c.139G= (p.Asp47=)
c.115G= (p.Asp39=)
1g.45508245G>TCA340132161MMACHCc.310G>T (p.Asp104Tyr)
c.139G>T (p.Asp47Tyr)
c.115G>T (p.Asp39Tyr)
1g.45508245_45508248delinsGACTCA2473783354MMACHCc.310_313delinsGACT (p.Asp104=)
c.139_142delinsGACT (p.Asp47=)
c.115_118delinsGACT (p.Asp39=)
1g.45508246A=CA2473783355MMACHCc.311A= (p.Asp104=)
c.140A= (p.Asp47=)
c.116A= (p.Asp39=)
1g.45508246A>CCA340132163MMACHCc.311A>C (p.Asp104Ala)
c.140A>C (p.Asp47Ala)
c.116A>C (p.Asp39Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.45508246A>GCA340132164MMACHCc.311A>G (p.Asp104Gly)
c.140A>G (p.Asp47Gly)
c.116A>G (p.Asp39Gly)
1g.45508246A>TCA340132162MMACHCc.311A>T (p.Asp104Val)
c.140A>T (p.Asp47Val)
c.116A>T (p.Asp39Val)
 ClinVar dbSNP gnomAD v4
1g.45508248_45508250delCA522810651MMACHCc.313_315del (p.Tyr105del)
c.142_144del (p.Tyr48del)
c.118_120del (p.Tyr40del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508247C>ACA340132166MMACHCc.312C>A (p.Asp104Glu)
c.141C>A (p.Asp47Glu)
c.117C>A (p.Asp39Glu)
1g.45508247C>GCA340132165MMACHCc.312C>G (p.Asp104Glu)
c.141C>G (p.Asp47Glu)
c.117C>G (p.Asp39Glu)
1g.45508247C>TCA417705496MMACHCc.312C>T (p.Asp104=)
c.141C>T (p.Asp47=)
c.117C>T (p.Asp39=)
 ClinVar gnomAD v4
1g.45508248T>ACA340132167MMACHCc.313T>A (p.Tyr105Asn)
c.142T>A (p.Tyr48Asn)
c.118T>A (p.Tyr40Asn)
1g.45508248T>CCA340132168MMACHCc.313T>C (p.Tyr105His)
c.142T>C (p.Tyr48His)
c.118T>C (p.Tyr40His)
1g.45508248T>GCA340132169MMACHCc.313T>G (p.Tyr105Asp)
c.142T>G (p.Tyr48Asp)
c.118T>G (p.Tyr40Asp)
1g.45508249A>CCA340132170MMACHCc.314A>C (p.Tyr105Ser)
c.143A>C (p.Tyr48Ser)
c.119A>C (p.Tyr40Ser)
1g.45508249A>GCA340132171MMACHCc.314A>G (p.Tyr105Cys)
c.143A>G (p.Tyr48Cys)
c.119A>G (p.Tyr40Cys)
1g.45508249A>TCA340132172MMACHCc.314A>T (p.Tyr105Phe)
c.143A>T (p.Tyr48Phe)
c.119A>T (p.Tyr40Phe)
1g.45508250C>ACA340132173MMACHCc.315C>A (p.Tyr105Ter)
c.144C>A (p.Tyr48Ter)
c.120C>A (p.Tyr40Ter)
 ClinVar dbSNP
1g.45508250C=CA1144347614MMACHCc.315C= (p.Tyr105=)
c.144C= (p.Tyr48=)
c.120C= (p.Tyr40=)
1g.45508250C>GCA340132174MMACHCc.315C>G (p.Tyr105Ter)
c.144C>G (p.Tyr48Ter)
c.120C>G (p.Tyr40Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45508250C>TCA827700MMACHCc.315C>T (p.Tyr105=)
c.144C>T (p.Tyr48=)
c.120C>T (p.Tyr40=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508251G>ACA312730MMACHCc.316G>A (p.Glu106Lys)
c.145G>A (p.Glu49Lys)
c.121G>A (p.Glu41Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508251G>CCA340132175MMACHCc.316G>C (p.Glu106Gln)
c.145G>C (p.Glu49Gln)
c.121G>C (p.Glu41Gln)
1g.45508251G=CA1143494261MMACHCc.316G= (p.Glu106=)
c.145G= (p.Glu49=)
c.121G= (p.Glu41=)
1g.45508251G>TCA340132176MMACHCc.316G>T (p.Glu106Ter)
c.145G>T (p.Glu49Ter)
c.121G>T (p.Glu41Ter)
1g.45508252A>CCA340132179MMACHCc.317A>C (p.Glu106Ala)
c.146A>C (p.Glu49Ala)
c.122A>C (p.Glu41Ala)
 COSMIC
1g.45508252A>GCA340132177MMACHCc.317A>G (p.Glu106Gly)
c.146A>G (p.Glu49Gly)
c.122A>G (p.Glu41Gly)
1g.45508252A>TCA340132178MMACHCc.317A>T (p.Glu106Val)
c.146A>T (p.Glu49Val)
c.122A>T (p.Glu41Val)
1g.45508253G>ACA417705497MMACHCc.318G>A (p.Glu106=)
c.147G>A (p.Glu49=)
c.123G>A (p.Glu41=)
 ClinVar COSMIC
1g.45508253G>CCA340132180MMACHCc.318G>C (p.Glu106Asp)
c.147G>C (p.Glu49Asp)
c.123G>C (p.Glu41Asp)
1g.45508253G>TCA340132181MMACHCc.318G>T (p.Glu106Asp)
c.147G>T (p.Glu49Asp)
c.123G>T (p.Glu41Asp)
1g.45508254G>ACA827701MMACHCc.319G>A (p.Val107Met)
c.148G>A (p.Val50Met)
c.124G>A (p.Val42Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508254G>CCA340132182MMACHCc.319G>C (p.Val107Leu)
c.148G>C (p.Val50Leu)
c.124G>C (p.Val42Leu)
1g.45508254G=CA2473783356MMACHCc.319G= (p.Val107=)
c.148G= (p.Val50=)
c.124G= (p.Val42=)
1g.45508254G>TCA340132183MMACHCc.319G>T (p.Val107Leu)
c.148G>T (p.Val50Leu)
c.124G>T (p.Val42Leu)
1g.45508255T>ACA340132184MMACHCc.320T>A (p.Val107Glu)
c.149T>A (p.Val50Glu)
c.125T>A (p.Val42Glu)
1g.45508255T>CCA340132185MMACHCc.320T>C (p.Val107Ala)
c.149T>C (p.Val50Ala)
c.125T>C (p.Val42Ala)
1g.45508255T>GCA340132186MMACHCc.320T>G (p.Val107Gly)
c.149T>G (p.Val50Gly)
c.125T>G (p.Val42Gly)
1g.45508256G>ACA285689MMACHCc.321G>A (p.Val107=)
c.150G>A (p.Val50=)
c.126G>A (p.Val42=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508256G>CCA417705499MMACHCc.321G>C (p.Val107=)
c.150G>C (p.Val50=)
c.126G>C (p.Val42=)
 dbSNP
1g.45508256G=CA1139925561MMACHCc.321G= (p.Val107=)
c.150G= (p.Val50=)
c.126G= (p.Val42=)
1g.45508256G>TCA417705498MMACHCc.321G>T (p.Val107=)
c.150G>T (p.Val50=)
c.126G>T (p.Val42=)
1g.45508256_45508264delinsACACCCA2580611161MMACHCc.321_329delinsACACC (p.Asn110AspfsTer13)
c.150_158delinsACACC (p.Asn53AspfsTer13)
c.126_134delinsACACC (p.Asn45AspfsTer13)
 ClinVar
1g.45508257C>ACA340132187MMACHCc.322C>A (p.His108Asn)
c.151C>A (p.His51Asn)
c.127C>A (p.His43Asn)
1g.45508257C=CA2473783357MMACHCc.322C= (p.His108=)
c.151C= (p.His51=)
c.127C= (p.His43=)
1g.45508257C>GCA340132188MMACHCc.322C>G (p.His108Asp)
c.151C>G (p.His51Asp)
c.127C>G (p.His43Asp)
1g.45508257C>TCA340132189MMACHCc.322C>T (p.His108Tyr)
c.151C>T (p.His51Tyr)
c.127C>T (p.His43Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.45508258A>CCA340132192MMACHCc.323A>C (p.His108Pro)
c.152A>C (p.His51Pro)
c.128A>C (p.His43Pro)
1g.45508258A>GCA340132191MMACHCc.323A>G (p.His108Arg)
c.152A>G (p.His51Arg)
c.128A>G (p.His43Arg)
 gnomAD v4
1g.45508258A>TCA340132190MMACHCc.323A>T (p.His108Leu)
c.152A>T (p.His51Leu)
c.128A>T (p.His43Leu)
1g.45508259C>ACA340132193MMACHCc.324C>A (p.His108Gln)
c.153C>A (p.His51Gln)
c.129C>A (p.His43Gln)
1g.45508259C>GCA340132194MMACHCc.324C>G (p.His108Gln)
c.153C>G (p.His51Gln)
c.129C>G (p.His43Gln)
1g.45508259C>TCA417705500MMACHCc.324C>T (p.His108=)
c.153C>T (p.His51=)
c.129C>T (p.His43=)
1g.45508262delCA2645391254MMACHCc.327del (p.Asn110ThrfsTer14)
c.156del (p.Asn53ThrfsTer14)
c.132del (p.Asn45ThrfsTer14)
 gnomAD v4
1g.45508260C>ACA340132195MMACHCc.325C>A (p.Pro109Thr)
c.154C>A (p.Pro52Thr)
c.130C>A (p.Pro44Thr)
1g.45508260C=CA2473783359MMACHCc.325C= (p.Pro109=)
c.154C= (p.Pro52=)
c.130C= (p.Pro44=)
1g.45508260C>GCA340132196MMACHCc.325C>G (p.Pro109Ala)
c.154C>G (p.Pro52Ala)
c.130C>G (p.Pro44Ala)
1g.45508260C>TCA340132197MMACHCc.325C>T (p.Pro109Ser)
c.154C>T (p.Pro52Ser)
c.130C>T (p.Pro44Ser)
1g.45508260_45508264delinsCCCAACA2473783358MMACHCc.325_329delinsCCCAA (p.Pro109=)
c.154_158delinsCCCAA (p.Pro52=)
c.130_134delinsCCCAA (p.Pro44=)
1g.45508261C>ACA340132198MMACHCc.326C>A (p.Pro109His)
c.155C>A (p.Pro52His)
c.131C>A (p.Pro44His)
1g.45508261C=CA1148444789MMACHCc.326C= (p.Pro109=)
c.155C= (p.Pro52=)
c.131C= (p.Pro44=)
1g.45508261C>GCA340132199MMACHCc.326C>G (p.Pro109Arg)
c.155C>G (p.Pro52Arg)
c.131C>G (p.Pro44Arg)
1g.45508261C>TCA827702MMACHCc.326C>T (p.Pro109Leu)
c.155C>T (p.Pro52Leu)
c.131C>T (p.Pro44Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508261_45508262insATTGCTGACCA736190161MMACHCc.326_327insATTGCTGAC (p.Pro109_Asn110insLeuLeuThr)
c.155_156insATTGCTGAC (p.Pro52_Asn53insLeuLeuThr)
c.131_132insATTGCTGAC (p.Pro44_Asn45insLeuLeuThr)
 dbSNP
1g.45508263_45508266delCA312742MMACHCc.328_331del (p.Asn110AspfsTer13)
c.157_160del (p.Asn53AspfsTer13)
c.133_136del (p.Asn45AspfsTer13)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508261_45508262insATTGCA1001243618MMACHCc.326_327insATTG (p.Asn110LeufsTer30)
c.155_156insATTG (p.Asn53LeufsTer30)
c.131_132insATTG (p.Asn45LeufsTer30)
 dbSNP gnomAD v3 gnomAD v4
1g.45508262C>ACA417705501MMACHCc.327C>A (p.Pro109=)
c.156C>A (p.Pro52=)
c.132C>A (p.Pro44=)
1g.45508262C=CA2473783360MMACHCc.327C= (p.Pro109=)
c.156C= (p.Pro52=)
c.132C= (p.Pro44=)
1g.45508262C>GCA417705502MMACHCc.327C>G (p.Pro109=)
c.156C>G (p.Pro52=)
c.132C>G (p.Pro44=)
1g.45508262C>TCA417705503MMACHCc.327C>T (p.Pro109=)
c.156C>T (p.Pro52=)
c.132C>T (p.Pro44=)
 dbSNP
1g.45508262_45508264delinsATTGCTGACTACCA2573051583MMACHCc.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)
c.156_158delinsATTGCTGACTAC (p.Asn53delinsLeuLeuThrThr)
c.132_134delinsATTGCTGACTAC (p.Asn45delinsLeuLeuThrThr)
 ClinVar dbSNP
1g.45508262_45508263insTGACTCA1001243631MMACHCc.327_328insTGACT (p.Asn110Ter)
c.156_157insTGACT (p.Asn53Ter)
c.132_133insTGACT (p.Asn45Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.45508263A=CA1144988325MMACHCc.328A= (p.Asn110=)
c.157A= (p.Asn53=)
c.133A= (p.Asn45=)
1g.45508263A>CCA827703MMACHCc.328A>C (p.Asn110His)
c.157A>C (p.Asn53His)
c.133A>C (p.Asn45His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508263A>GCA340132200MMACHCc.328A>G (p.Asn110Asp)
c.157A>G (p.Asn53Asp)
c.133A>G (p.Asn45Asp)
1g.45508263A>TCA340132201MMACHCc.328A>T (p.Asn110Tyr)
c.157A>T (p.Asn53Tyr)
c.133A>T (p.Asn45Tyr)
1g.45508264A=CA2473783361MMACHCc.329A= (p.Asn110=)
c.158A= (p.Asn53=)
c.134A= (p.Asn45=)
1g.45508264A>CCA340132203MMACHCc.329A>C (p.Asn110Thr)
c.158A>C (p.Asn53Thr)
c.134A>C (p.Asn45Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.45508264A>GCA827704MMACHCc.329A>G (p.Asn110Ser)
c.158A>G (p.Asn53Ser)
c.134A>G (p.Asn45Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508264A>TCA340132202MMACHCc.329A>T (p.Asn110Ile)
c.158A>T (p.Asn53Ile)
c.134A>T (p.Asn45Ile)
1g.45508265C>ACA340132204MMACHCc.330C>A (p.Asn110Lys)
c.159C>A (p.Asn53Lys)
c.135C>A (p.Asn45Lys)
1g.45508265C>GCA340132205MMACHCc.330C>G (p.Asn110Lys)
c.159C>G (p.Asn53Lys)
c.135C>G (p.Asn45Lys)
1g.45508265C>TCA417705504MMACHCc.330C>T (p.Asn110=)
c.159C>T (p.Asn53=)
c.135C>T (p.Asn45=)
1g.45508266C>ACA417705505MMACHCc.331C>A (p.Arg111=)
c.160C>A (p.Arg54=)
c.136C>A (p.Arg46=)
1g.45508266C=CA1141580768MMACHCc.331C= (p.Arg111=)
c.160C= (p.Arg54=)
c.136C= (p.Arg46=)
1g.45508266C>GCA340132206MMACHCc.331C>G (p.Arg111Gly)
c.160C>G (p.Arg54Gly)
c.136C>G (p.Arg46Gly)
1g.45508266C>TCA251789MMACHCc.331C>T (p.Arg111Ter)
c.160C>T (p.Arg54Ter)
c.136C>T (p.Arg46Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508267G>ACA827705MMACHCc.332G>A (p.Arg111Gln)
c.161G>A (p.Arg54Gln)
c.137G>A (p.Arg46Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508267G>CCA340132208MMACHCc.332G>C (p.Arg111Pro)
c.161G>C (p.Arg54Pro)
c.137G>C (p.Arg46Pro)
1g.45508267G=CA1143408233MMACHCc.332G= (p.Arg111=)
c.161G= (p.Arg54=)
c.137G= (p.Arg46=)
1g.45508267G>TCA340132207MMACHCc.332G>T (p.Arg111Leu)
c.161G>T (p.Arg54Leu)
c.137G>T (p.Arg46Leu)
1g.45508268A>CCA417705506MMACHCc.333A>C (p.Arg111=)
c.162A>C (p.Arg54=)
c.138A>C (p.Arg46=)
1g.45508268A>GCA417705507MMACHCc.333A>G (p.Arg111=)
c.162A>G (p.Arg54=)
c.138A>G (p.Arg46=)
1g.45508268A>TCA417705508MMACHCc.333A>T (p.Arg111=)
c.162A>T (p.Arg54=)
c.138A>T (p.Arg46=)

Number of alleles fetched