Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45507502_45507505delCA736189248MMACHCc.228_231del (p.Asp77GlnfsTer22)
c.57_60del (p.Asp20GlnfsTer22)
c.82-710_82-707del (n.82-710_82-707del)
 ClinVar dbSNP
1g.45507502T>ACA417704639MMACHCc.228T>A (p.Thr76=)
c.57T>A (p.Thr19=)
c.82-710T>A (n.82-710T>A)
 gnomAD v4
1g.45507502T>CCA417704640MMACHCc.228T>C (p.Thr76=)
c.57T>C (p.Thr19=)
c.82-710T>C (n.82-710T>C)
1g.45507502T>GCA417704641MMACHCc.228T>G (p.Thr76=)
c.57T>G (p.Thr19=)
c.82-710T>G (n.82-710T>G)
1g.45507503G>ACA340131951MMACHCc.229G>A (p.Asp77Asn)
c.58G>A (p.Asp20Asn)
c.82-709G>A (n.82-709G>A)
 gnomAD v4
1g.45507503G>CCA340131955MMACHCc.229G>C (p.Asp77His)
c.58G>C (p.Asp20His)
c.82-709G>C (n.82-709G>C)
1g.45507503G>TCA340131952MMACHCc.229G>T (p.Asp77Tyr)
c.58G>T (p.Asp20Tyr)
c.82-709G>T (n.82-709G>T)
1g.45507504A=CA2473783068MMACHCc.230A= (p.Asp77=)
c.59A= (p.Asp20=)
c.82-708A= (n.82-708A=)
1g.45507504A>CCA340131959MMACHCc.230A>C (p.Asp77Ala)
c.59A>C (p.Asp20Ala)
c.82-708A>C (n.82-708A>C)
1g.45507504A>GCA340131961MMACHCc.230A>G (p.Asp77Gly)
c.59A>G (p.Asp20Gly)
c.82-708A>G (n.82-708A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45507504A>TCA340131963MMACHCc.230A>T (p.Asp77Val)
c.59A>T (p.Asp20Val)
c.82-708A>T (n.82-708A>T)
1g.45507505C>ACA340131966MMACHCc.231C>A (p.Asp77Glu)
c.60C>A (p.Asp20Glu)
c.82-707C>A (n.82-707C>A)
1g.45507505C>GCA340131969MMACHCc.231C>G (p.Asp77Glu)
c.60C>G (p.Asp20Glu)
c.82-707C>G (n.82-707C>G)
1g.45507505C>TCA417704642MMACHCc.231C>T (p.Asp77=)
c.60C>T (p.Asp20=)
c.82-707C>T (n.82-707C>T)
 ClinVar dbSNP
1g.45507506C>ACA21828902MMACHCc.232C>A (p.Pro78Thr)
c.61C>A (p.Pro21Thr)
c.82-706C>A (n.82-706C>A)
 dbSNP gnomAD v4
1g.45507506C=CA2473783069MMACHCc.232C= (p.Pro78=)
c.61C= (p.Pro21=)
c.82-706C= (n.82-706C=)
1g.45507506C>GCA340131974MMACHCc.232C>G (p.Pro78Ala)
c.61C>G (p.Pro21Ala)
c.82-706C>G (n.82-706C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45507506C>TCA340131977MMACHCc.232C>T (p.Pro78Ser)
c.61C>T (p.Pro21Ser)
c.82-706C>T (n.82-706C>T)
1g.45507512_45507519delCA2645390920MMACHCc.238_245del (p.Asp80CysfsTer9)
c.67_74del (p.Asp23CysfsTer9)
c.82-700_82-693del (n.82-700_82-693del)
 gnomAD v4
1g.45507507C>ACA340131979MMACHCc.233C>A (p.Pro78Gln)
c.62C>A (p.Pro21Gln)
c.82-705C>A (n.82-705C>A)
1g.45507507C>GCA340131982MMACHCc.233C>G (p.Pro78Arg)
c.62C>G (p.Pro21Arg)
c.82-705C>G (n.82-705C>G)
 dbSNP gnomAD v4
1g.45507507C>TCA340131985MMACHCc.233C>T (p.Pro78Leu)
c.62C>T (p.Pro21Leu)
c.82-705C>T (n.82-705C>T)
 gnomAD v4
1g.45507508A=CA2473783070MMACHCc.234A= (p.Pro78=)
c.63A= (p.Pro21=)
c.82-704A= (n.82-704A=)
1g.45507508A>CCA417704643MMACHCc.234A>C (p.Pro78=)
c.63A>C (p.Pro21=)
c.82-704A>C (n.82-704A>C)
 ClinVar
1g.45507508A>GCA417704644MMACHCc.234A>G (p.Pro78=)
c.63A>G (p.Pro21=)
c.82-704A>G (n.82-704A>G)
 dbSNP
1g.45507508A>TCA417704645MMACHCc.234A>T (p.Pro78=)
c.63A>T (p.Pro21=)
c.82-704A>T (n.82-704A>T)
1g.45507509G>ACA340131990MMACHCc.235G>A (p.Val79Met)
c.64G>A (p.Val22Met)
c.82-703G>A (n.82-703G>A)
1g.45507509G>CCA340131989MMACHCc.235G>C (p.Val79Leu)
c.64G>C (p.Val22Leu)
c.82-703G>C (n.82-703G>C)
1g.45507509G>TCA340131988MMACHCc.235G>T (p.Val79Leu)
c.64G>T (p.Val22Leu)
c.82-703G>T (n.82-703G>T)
1g.45507510T>ACA340131991MMACHCc.236T>A (p.Val79Glu)
c.65T>A (p.Val22Glu)
c.82-702T>A (n.82-702T>A)
1g.45507510T>CCA340131992MMACHCc.236T>C (p.Val79Ala)
c.65T>C (p.Val22Ala)
c.82-702T>C (n.82-702T>C)
 dbSNP
1g.45507510T>GCA340131993MMACHCc.236T>G (p.Val79Gly)
c.65T>G (p.Val22Gly)
c.82-702T>G (n.82-702T>G)
1g.45507510T=CA2473783071MMACHCc.236T= (p.Val79=)
c.65T= (p.Val22=)
c.82-702T= (n.82-702T=)
1g.45507511G>ACA417704646MMACHCc.237G>A (p.Val79=)
c.66G>A (p.Val22=)
c.82-701G>A (n.82-701G>A)
1g.45507511G>CCA417704647MMACHCc.237G>C (p.Val79=)
c.66G>C (p.Val22=)
c.82-701G>C (n.82-701G>C)
1g.45507511G>TCA417704649MMACHCc.237G>T (p.Val79=)
c.66G>T (p.Val22=)
c.82-701G>T (n.82-701G>T)
1g.45507512G>ACA340131994MMACHCc.238G>A (p.Asp80Asn)
c.67G>A (p.Asp23Asn)
c.82-700G>A (n.82-700G>A)
1g.45507512G>CCA340131995MMACHCc.238G>C (p.Asp80His)
c.67G>C (p.Asp23His)
c.82-700G>C (n.82-700G>C)
1g.45507512G>TCA340131996MMACHCc.238G>T (p.Asp80Tyr)
c.67G>T (p.Asp23Tyr)
c.82-700G>T (n.82-700G>T)
1g.45507513A>CCA340131997MMACHCc.239A>C (p.Asp80Ala)
c.68A>C (p.Asp23Ala)
c.82-699A>C (n.82-699A>C)
1g.45507513A>GCA340131998MMACHCc.239A>G (p.Asp80Gly)
c.68A>G (p.Asp23Gly)
c.82-699A>G (n.82-699A>G)
 gnomAD v4
1g.45507513A>TCA340131999MMACHCc.239A>T (p.Asp80Val)
c.68A>T (p.Asp23Val)
c.82-699A>T (n.82-699A>T)
1g.45507514C>ACA340132000MMACHCc.240C>A (p.Asp80Glu)
c.69C>A (p.Asp23Glu)
c.82-698C>A (n.82-698C>A)
1g.45507514C=CA1144206713MMACHCc.240C= (p.Asp80=)
c.69C= (p.Asp23=)
c.82-698C= (n.82-698C=)
1g.45507514C>GCA340132001MMACHCc.240C>G (p.Asp80Glu)
c.69C>G (p.Asp23Glu)
c.82-698C>G (n.82-698C>G)
 gnomAD v4
1g.45507514C>TCA21828905MMACHCc.240C>T (p.Asp80=)
c.69C>T (p.Asp23=)
c.82-698C>T (n.82-698C>T)
 dbSNP gnomAD v4
1g.45507515C>ACA340132002MMACHCc.241C>A (p.Gln81Lys)
c.70C>A (p.Gln24Lys)
c.82-697C>A (n.82-697C>A)
1g.45507515C=CA1143915365MMACHCc.241C= (p.Gln81=)
c.70C= (p.Gln24=)
c.82-697C= (n.82-697C=)
1g.45507515C>GCA827669MMACHCc.241C>G (p.Gln81Glu)
c.70C>G (p.Gln24Glu)
c.82-697C>G (n.82-697C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45507515C>TCA10611318MMACHCc.241C>T (p.Gln81Ter)
c.70C>T (p.Gln24Ter)
c.82-697C>T (n.82-697C>T)
 ClinVar dbSNP

Number of alleles fetched