Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.31719135A>CCA449669433LY6G6C,MPIG6Bc.339T>G (p.Leu113=)
n.90+452A>C
c.171T>G (p.Leu57=)
6g.31719135A>GCA449669434LY6G6C,MPIG6Bc.339T>C (p.Leu113=)
n.90+452A>G
c.171T>C (p.Leu57=)
6g.31719135A>TCA449669436LY6G6C,MPIG6Bc.339T>A (p.Leu113=)
n.90+452A>T
c.171T>A (p.Leu57=)
6g.31719136A>CCA363364986LY6G6C,MPIG6Bc.338T>G (p.Leu113Arg)
n.90+453A>C
c.170T>G (p.Leu57Arg)
6g.31719136A>GCA363364988LY6G6C,MPIG6Bc.338T>C (p.Leu113Pro)
n.90+453A>G
c.170T>C (p.Leu57Pro)
gnomAD v4
6g.31719136A>TCA363364990LY6G6C,MPIG6Bc.338T>A (p.Leu113His)
n.90+453A>T
c.170T>A (p.Leu57His)
6g.31719137G>ACA363364993LY6G6C,MPIG6Bc.337C>T (p.Leu113Phe)
n.90+454G>A
c.169C>T (p.Leu57Phe)
6g.31719137G>CCA363364995LY6G6C,MPIG6Bc.337C>G (p.Leu113Val)
n.90+454G>C
c.169C>G (p.Leu57Val)
6g.31719137G>TCA363364996LY6G6C,MPIG6Bc.337C>A (p.Leu113Ile)
n.90+454G>T
c.169C>A (p.Leu57Ile)
6g.31719138G>ACA449669446LY6G6C,MPIG6Bc.336C>T (p.Phe112=)
n.90+455G>A
c.168C>T (p.Phe56=)
COSMIC
6g.31719138G>CCA363364998LY6G6C,MPIG6Bc.336C>G (p.Phe112Leu)
n.90+455G>C
c.168C>G (p.Phe56Leu)
6g.31719138G>TCA363365000LY6G6C,MPIG6Bc.336C>A (p.Phe112Leu)
n.90+455G>T
c.168C>A (p.Phe56Leu)
6g.31719139A>CCA363365003LY6G6C,MPIG6Bc.335T>G (p.Phe112Cys)
n.90+456A>C
c.167T>G (p.Phe56Cys)
6g.31719139A>GCA363365004LY6G6C,MPIG6Bc.335T>C (p.Phe112Ser)
n.90+456A>G
c.167T>C (p.Phe56Ser)
6g.31719139A>TCA363365001LY6G6C,MPIG6Bc.335T>A (p.Phe112Tyr)
n.90+456A>T
c.167T>A (p.Phe56Tyr)
6g.31719140A>CCA363365009LY6G6C,MPIG6Bc.334T>G (p.Phe112Val)
n.90+457A>C
c.166T>G (p.Phe56Val)
6g.31719140A>GCA363365007LY6G6C,MPIG6Bc.334T>C (p.Phe112Leu)
n.90+457A>G
c.166T>C (p.Phe56Leu)
6g.31719140A>TCA363365010LY6G6C,MPIG6Bc.334T>A (p.Phe112Ile)
n.90+457A>T
c.166T>A (p.Phe56Ile)
6g.31719141G>ACA449669453LY6G6C,MPIG6Bc.333C>T (p.Val111=)
n.90+458G>A
c.165C>T (p.Val55=)
gnomAD v4
6g.31719141G>CCA449669454LY6G6C,MPIG6Bc.333C>G (p.Val111=)
n.90+458G>C
c.165C>G (p.Val55=)
6g.31719141G=CA1619276976LY6G6C,MPIG6Bc.333C= (p.Val111=)
n.90+458G=
c.165C= (p.Val55=)
6g.31719141G>TCA3720108LY6G6C,MPIG6Bc.333C>A (p.Val111=)
n.90+458G>T
c.165C>A (p.Val55=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719142A=CA1619276977LY6G6C,MPIG6Bc.332T= (p.Val111=)
n.90+459A=
c.164T= (p.Val55=)
6g.31719142A>CCA363365013LY6G6C,MPIG6Bc.332T>G (p.Val111Gly)
n.90+459A>C
c.164T>G (p.Val55Gly)
6g.31719142A>GCA363365014LY6G6C,MPIG6Bc.332T>C (p.Val111Ala)
n.90+459A>G
c.164T>C (p.Val55Ala)
dbSNP gnomAD v2 gnomAD v4
6g.31719142A>TCA363365016LY6G6C,MPIG6Bc.332T>A (p.Val111Asp)
n.90+459A>T
c.164T>A (p.Val55Asp)
6g.31719143C>ACA363365018LY6G6C,MPIG6Bc.331G>T (p.Val111Phe)
n.90+460C>A
c.163G>T (p.Val55Phe)
6g.31719143C>GCA363365019LY6G6C,MPIG6Bc.331G>C (p.Val111Leu)
n.90+460C>G
c.163G>C (p.Val55Leu)
6g.31719143C>TCA363365021LY6G6C,MPIG6Bc.331G>A (p.Val111Ile)
n.90+460C>T
c.163G>A (p.Val55Ile)
6g.31719144A>CCA449669456LY6G6C,MPIG6Bc.330T>G (p.Leu110=)
n.90+461A>C
c.162T>G (p.Leu54=)
6g.31719144A>GCA449669458LY6G6C,MPIG6Bc.330T>C (p.Leu110=)
n.90+461A>G
c.162T>C (p.Leu54=)
6g.31719144A>TCA449669457LY6G6C,MPIG6Bc.330T>A (p.Leu110=)
n.90+461A>T
c.162T>A (p.Leu54=)
6g.31719145A>CCA363365024LY6G6C,MPIG6Bc.329T>G (p.Leu110Arg)
n.90+462A>C
c.161T>G (p.Leu54Arg)
6g.31719145A>GCA363365026LY6G6C,MPIG6Bc.329T>C (p.Leu110Pro)
n.90+462A>G
c.161T>C (p.Leu54Pro)
6g.31719145A>TCA363365027LY6G6C,MPIG6Bc.329T>A (p.Leu110His)
n.90+462A>T
c.161T>A (p.Leu54His)
6g.31719146G>ACA363365036LY6G6C,MPIG6Bc.328C>T (p.Leu110Phe)
n.90+463G>A
c.160C>T (p.Leu54Phe)
6g.31719146G>CCA363365033LY6G6C,MPIG6Bc.328C>G (p.Leu110Val)
n.90+463G>C
c.160C>G (p.Leu54Val)
6g.31719146G>TCA363365031LY6G6C,MPIG6Bc.328C>A (p.Leu110Ile)
n.90+463G>T
c.160C>A (p.Leu54Ile)
6g.31719147G>ACA3720109LY6G6C,MPIG6Bc.327C>T (p.Gly109=)
n.90+464G>A
c.159C>T (p.Gly53=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719147G>CCA449669459LY6G6C,MPIG6Bc.327C>G (p.Gly109=)
n.90+464G>C
c.159C>G (p.Gly53=)
6g.31719147G=CA1619276978LY6G6C,MPIG6Bc.327C= (p.Gly109=)
n.90+464G=
c.159C= (p.Gly53=)
6g.31719147G>TCA449669460LY6G6C,MPIG6Bc.327C>A (p.Gly109=)
n.90+464G>T
c.159C>A (p.Gly53=)
gnomAD v4
6g.31719148C>ACA363365039LY6G6C,MPIG6Bc.326G>T (p.Gly109Val)
n.90+465C>A
c.158G>T (p.Gly53Val)
6g.31719148C>GCA363365041LY6G6C,MPIG6Bc.326G>C (p.Gly109Ala)
n.90+465C>G
c.158G>C (p.Gly53Ala)
6g.31719148C>TCA363365043LY6G6C,MPIG6Bc.326G>A (p.Gly109Asp)
n.90+465C>T
c.158G>A (p.Gly53Asp)
6g.31719149C>ACA363365045LY6G6C,MPIG6Bc.325G>T (p.Gly109Cys)
n.90+466C>A
c.157G>T (p.Gly53Cys)
6g.31719149C=CA1619276979LY6G6C,MPIG6Bc.325G= (p.Gly109=)
n.90+466C=
c.157G= (p.Gly53=)
6g.31719149C>GCA363365047LY6G6C,MPIG6Bc.325G>C (p.Gly109Arg)
n.90+466C>G
c.157G>C (p.Gly53Arg)
dbSNP gnomAD v2 gnomAD v4
6g.31719149C>TCA363365048LY6G6C,MPIG6Bc.325G>A (p.Gly109Ser)
n.90+466C>T
c.157G>A (p.Gly53Ser)
6g.31719150C>ACA449669461LY6G6C,MPIG6Bc.324G>T (p.Leu108=)
n.90+467C>A
c.156G>T (p.Leu52=)
6g.31719150C>GCA449669462LY6G6C,MPIG6Bc.324G>C (p.Leu108=)
n.90+467C>G
c.156G>C (p.Leu52=)
6g.31719150C>TCA449669463LY6G6C,MPIG6Bc.324G>A (p.Leu108=)
n.90+467C>T
c.156G>A (p.Leu52=)
6g.31719151A=CA1619276980LY6G6C,MPIG6Bc.323T= (p.Leu108=)
n.90+468A=
c.155T= (p.Leu52=)
6g.31719151A>CCA363365050LY6G6C,MPIG6Bc.323T>G (p.Leu108Arg)
n.90+468A>C
c.155T>G (p.Leu52Arg)
6g.31719151A>GCA3720110LY6G6C,MPIG6Bc.323T>C (p.Leu108Pro)
n.90+468A>G
c.155T>C (p.Leu52Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719151A>TCA363365051LY6G6C,MPIG6Bc.323T>A (p.Leu108Gln)
n.90+468A>T
c.155T>A (p.Leu52Gln)
6g.31719152G>ACA449669464LY6G6C,MPIG6Bc.322C>T (p.Leu108=)
n.90+469G>A
c.154C>T (p.Leu52=)
6g.31719152G>CCA363365053LY6G6C,MPIG6Bc.322C>G (p.Leu108Val)
n.90+469G>C
c.154C>G (p.Leu52Val)
dbSNP
6g.31719152G=CA1619276981LY6G6C,MPIG6Bc.322C= (p.Leu108=)
n.90+469G=
c.154C= (p.Leu52=)
6g.31719152G>TCA363365055LY6G6C,MPIG6Bc.322C>A (p.Leu108Met)
n.90+469G>T
c.154C>A (p.Leu52Met)
6g.31719153G>ACA449669469LY6G6C,MPIG6Bc.321C>T (p.Ala107=)
n.90+470G>A
c.153C>T (p.Ala51=)
6g.31719153G>CCA449669466LY6G6C,MPIG6Bc.321C>G (p.Ala107=)
n.90+470G>C
c.153C>G (p.Ala51=)
6g.31719153G>TCA449669467LY6G6C,MPIG6Bc.321C>A (p.Ala107=)
n.90+470G>T
c.153C>A (p.Ala51=)
6g.31719154G>ACA363365058LY6G6C,MPIG6Bc.320C>T (p.Ala107Val)
n.90+471G>A
c.152C>T (p.Ala51Val)
gnomAD v4
6g.31719154G>CCA363365059LY6G6C,MPIG6Bc.320C>G (p.Ala107Gly)
n.90+471G>C
c.152C>G (p.Ala51Gly)
6g.31719154G>TCA363365056LY6G6C,MPIG6Bc.320C>A (p.Ala107Asp)
n.90+471G>T
c.152C>A (p.Ala51Asp)
6g.31719155C>ACA363365060LY6G6C,MPIG6Bc.319G>T (p.Ala107Ser)
n.90+472C>A
c.151G>T (p.Ala51Ser)
6g.31719155C>GCA363365062LY6G6C,MPIG6Bc.319G>C (p.Ala107Pro)
n.90+472C>G
c.151G>C (p.Ala51Pro)
6g.31719155C>TCA363365064LY6G6C,MPIG6Bc.319G>A (p.Ala107Thr)
n.90+472C>T
c.151G>A (p.Ala51Thr)
6g.31719156T>ACA449669470LY6G6C,MPIG6Bc.318A>T (p.Pro106=)
n.90+473T>A
c.150A>T (p.Pro50=)
6g.31719156T>CCA449669471LY6G6C,MPIG6Bc.318A>G (p.Pro106=)
n.90+473T>C
c.150A>G (p.Pro50=)
6g.31719156T>GCA449669472LY6G6C,MPIG6Bc.318A>C (p.Pro106=)
n.90+473T>G
c.150A>C (p.Pro50=)
6g.31719157G>ACA363365066LY6G6C,MPIG6Bc.317C>T (p.Pro106Leu)
n.90+474G>A
c.149C>T (p.Pro50Leu)
COSMIC
6g.31719157G>CCA363365067LY6G6C,MPIG6Bc.317C>G (p.Pro106Arg)
n.90+474G>C
c.149C>G (p.Pro50Arg)
6g.31719157G>TCA363365069LY6G6C,MPIG6Bc.317C>A (p.Pro106Gln)
n.90+474G>T
c.149C>A (p.Pro50Gln)
6g.31719158G>ACA136869960LY6G6C,MPIG6Bc.316C>T (p.Pro106Ser)
n.90+475G>A
c.148C>T (p.Pro50Ser)
dbSNP gnomAD v3 gnomAD v4
6g.31719158G>CCA363365071LY6G6C,MPIG6Bc.316C>G (p.Pro106Ala)
n.90+475G>C
c.148C>G (p.Pro50Ala)
6g.31719158G=CA1619276982LY6G6C,MPIG6Bc.316C= (p.Pro106=)
n.90+475G=
c.148C= (p.Pro50=)
6g.31719158G>TCA363365074LY6G6C,MPIG6Bc.316C>A (p.Pro106Thr)
n.90+475G>T
c.148C>A (p.Pro50Thr)
6g.31719159A>CCA449669474LY6G6C,MPIG6Bc.315T>G (p.Thr105=)
n.90+476A>C
c.147T>G (p.Thr49=)
6g.31719159A>GCA449669476LY6G6C,MPIG6Bc.315T>C (p.Thr105=)
n.90+476A>G
c.147T>C (p.Thr49=)
6g.31719159A>TCA449669477LY6G6C,MPIG6Bc.315T>A (p.Thr105=)
n.90+476A>T
c.147T>A (p.Thr49=)
6g.31719160G>ACA363365077LY6G6C,MPIG6Bc.314C>T (p.Thr105Ile)
n.90+477G>A
c.146C>T (p.Thr49Ile)
6g.31719160G>CCA363365078LY6G6C,MPIG6Bc.314C>G (p.Thr105Ser)
n.90+477G>C
c.146C>G (p.Thr49Ser)
6g.31719160G=CA1619276983LY6G6C,MPIG6Bc.314C= (p.Thr105=)
n.90+477G=
c.146C= (p.Thr49=)
6g.31719160G>TCA363365079LY6G6C,MPIG6Bc.314C>A (p.Thr105Asn)
n.90+477G>T
c.146C>A (p.Thr49Asn)
ClinVar dbSNP
6g.31719161T>ACA363365083LY6G6C,MPIG6Bc.313A>T (p.Thr105Ser)
n.90+478T>A
c.145A>T (p.Thr49Ser)
6g.31719161T>CCA363365085LY6G6C,MPIG6Bc.313A>G (p.Thr105Ala)
n.90+478T>C
c.145A>G (p.Thr49Ala)
6g.31719161T>GCA363365081LY6G6C,MPIG6Bc.313A>C (p.Thr105Pro)
n.90+478T>G
c.145A>C (p.Thr49Pro)
6g.31719162G>ACA449669478LY6G6C,MPIG6Bc.312C>T (p.Pro104=)
n.90+479G>A
c.144C>T (p.Pro48=)
6g.31719162G>CCA449669479LY6G6C,MPIG6Bc.312C>G (p.Pro104=)
n.90+479G>C
c.144C>G (p.Pro48=)
gnomAD v4
6g.31719162G>TCA449669480LY6G6C,MPIG6Bc.312C>A (p.Pro104=)
n.90+479G>T
c.144C>A (p.Pro48=)
6g.31719163G>ACA363365087LY6G6C,MPIG6Bc.311C>T (p.Pro104Leu)
n.90+480G>A
c.143C>T (p.Pro48Leu)
6g.31719163G>CCA363365088LY6G6C,MPIG6Bc.311C>G (p.Pro104Arg)
n.90+480G>C
c.143C>G (p.Pro48Arg)
6g.31719163G>TCA363365090LY6G6C,MPIG6Bc.311C>A (p.Pro104His)
n.90+480G>T
c.143C>A (p.Pro48His)
6g.31719164G>ACA3720111LY6G6C,MPIG6Bc.310C>T (p.Pro104Ser)
n.90+481G>A
c.142C>T (p.Pro48Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719164G>CCA363365092LY6G6C,MPIG6Bc.310C>G (p.Pro104Ala)
n.90+481G>C
c.142C>G (p.Pro48Ala)
gnomAD v4
6g.31719164G=CA1619276984LY6G6C,MPIG6Bc.310C= (p.Pro104=)
n.90+481G=
c.142C= (p.Pro48=)
6g.31719164G>TCA363365094LY6G6C,MPIG6Bc.310C>A (p.Pro104Thr)
n.90+481G>T
c.142C>A (p.Pro48Thr)
6g.31719165C>ACA449669482LY6G6C,MPIG6Bc.309G>T (p.Arg103=)
n.90+482C>A
c.141G>T (p.Arg47=)
6g.31719165C=CA1619276985LY6G6C,MPIG6Bc.309G= (p.Arg103=)
n.90+482C=
c.141G= (p.Arg47=)
6g.31719165C>GCA449669483LY6G6C,MPIG6Bc.309G>C (p.Arg103=)
n.90+482C>G
c.141G>C (p.Arg47=)
6g.31719165C>TCA449669484LY6G6C,MPIG6Bc.309G>A (p.Arg103=)
n.90+482C>T
c.141G>A (p.Arg47=)
dbSNP gnomAD v3 gnomAD v4
6g.31719166C>ACA363365096LY6G6C,MPIG6Bc.308G>T (p.Arg103Leu)
n.90+483C>A
c.140G>T (p.Arg47Leu)
6g.31719166C=CA1619276987LY6G6C,MPIG6Bc.308G= (p.Arg103=)
n.90+483C=
c.140G= (p.Arg47=)
6g.31719166C>GCA363365098LY6G6C,MPIG6Bc.308G>C (p.Arg103Pro)
n.90+483C>G
c.140G>C (p.Arg47Pro)
6g.31719166C>TCA3720112LY6G6C,MPIG6Bc.308G>A (p.Arg103Gln)
n.90+483C>T
c.140G>A (p.Arg47Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719166_31719167delinsCGCA1619276986LY6G6C,MPIG6Bc.307_308delinsCG (p.Arg103=)
n.90+483_90+484delinsCG
c.139_140delinsCG (p.Arg47=)
6g.31719167G>ACA3720113LY6G6C,MPIG6Bc.307C>T (p.Arg103Trp)
n.90+484G>A
c.139C>T (p.Arg47Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719167G>CCA363365101LY6G6C,MPIG6Bc.307C>G (p.Arg103Gly)
n.90+484G>C
c.139C>G (p.Arg47Gly)
6g.31719167G=CA1619276989LY6G6C,MPIG6Bc.307C= (p.Arg103=)
n.90+484G=
c.139C= (p.Arg47=)
6g.31719167G>TCA449669485LY6G6C,MPIG6Bc.307C>A (p.Arg103=)
n.90+484G>T
c.139C>A (p.Arg47=)
6g.31719170delCA1619276988LY6G6C,MPIG6Bc.307del (p.Arg103GlyfsTer?)
n.90+487del
c.139del (p.Arg47GlyfsTer?)
dbSNP gnomAD v4
6g.31719168G>ACA449669486LY6G6C,MPIG6Bc.306C>T (p.Pro102=)
n.90+485G>A
c.138C>T (p.Pro46=)
COSMIC
6g.31719168G>CCA449669487LY6G6C,MPIG6Bc.306C>G (p.Pro102=)
n.90+485G>C
c.138C>G (p.Pro46=)
6g.31719168G=CA1619276990LY6G6C,MPIG6Bc.306C= (p.Pro102=)
n.90+485G=
c.138C= (p.Pro46=)
6g.31719168G>TCA449669488LY6G6C,MPIG6Bc.306C>A (p.Pro102=)
n.90+485G>T
c.138C>A (p.Pro46=)
dbSNP gnomAD v2 gnomAD v4
6g.31719169G>ACA3720114LY6G6C,MPIG6Bc.305C>T (p.Pro102Leu)
n.90+486G>A
c.137C>T (p.Pro46Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719169G>CCA363365105LY6G6C,MPIG6Bc.305C>G (p.Pro102Arg)
n.90+486G>C
c.137C>G (p.Pro46Arg)
dbSNP
6g.31719169G=CA1619276991LY6G6C,MPIG6Bc.305C= (p.Pro102=)
n.90+486G=
c.137C= (p.Pro46=)
6g.31719169G>TCA363365107LY6G6C,MPIG6Bc.305C>A (p.Pro102His)
n.90+486G>T
c.137C>A (p.Pro46His)
6g.31719170G>ACA363365111LY6G6C,MPIG6Bc.304C>T (p.Pro102Ser)
n.90+487G>A
c.136C>T (p.Pro46Ser)
6g.31719170G>CCA363365112LY6G6C,MPIG6Bc.304C>G (p.Pro102Ala)
n.90+487G>C
c.136C>G (p.Pro46Ala)
6g.31719170G>TCA363365109LY6G6C,MPIG6Bc.304C>A (p.Pro102Thr)
n.90+487G>T
c.136C>A (p.Pro46Thr)
6g.31719171T>ACA449669490LY6G6C,MPIG6Bc.303A>T (p.Gly101=)
n.90+488T>A
c.135A>T (p.Gly45=)
6g.31719171T>CCA449669491LY6G6C,MPIG6Bc.303A>G (p.Gly101=)
n.90+488T>C
c.135A>G (p.Gly45=)
6g.31719171T>GCA449669492LY6G6C,MPIG6Bc.303A>C (p.Gly101=)
n.90+488T>G
c.135A>C (p.Gly45=)
6g.31719172C>ACA363365119LY6G6C,MPIG6Bc.302G>T (p.Gly101Val)
n.90+489C>A
c.134G>T (p.Gly45Val)
6g.31719172C>GCA363365116LY6G6C,MPIG6Bc.302G>C (p.Gly101Ala)
n.90+489C>G
c.134G>C (p.Gly45Ala)
6g.31719172C>TCA363365117LY6G6C,MPIG6Bc.302G>A (p.Gly101Glu)
n.90+489C>T
c.134G>A (p.Gly45Glu)
6g.31719173C>ACA363365122LY6G6C,MPIG6Bc.301G>T (p.Gly101Ter)
n.90+490C>A
c.133G>T (p.Gly45Ter)
6g.31719173C>GCA363365123LY6G6C,MPIG6Bc.301G>C (p.Gly101Arg)
n.90+490C>G
c.133G>C (p.Gly45Arg)
6g.31719173C>TCA363365124LY6G6C,MPIG6Bc.301G>A (p.Gly101Arg)
n.90+490C>T
c.133G>A (p.Gly45Arg)
6g.31719174T>ACA449669497LY6G6C,MPIG6Bc.300A>T (p.Ala100=)
n.90+491T>A
c.132A>T (p.Ala44=)
6g.31719174T>CCA449669494LY6G6C,MPIG6Bc.300A>G (p.Ala100=)
n.90+491T>C
c.132A>G (p.Ala44=)
6g.31719174T>GCA449669496LY6G6C,MPIG6Bc.300A>C (p.Ala100=)
n.90+491T>G
c.132A>C (p.Ala44=)
6g.31719175G>ACA363365131LY6G6C,MPIG6Bc.299C>T (p.Ala100Val)
n.90+492G>A
c.131C>T (p.Ala44Val)
dbSNP gnomAD v3 gnomAD v4
6g.31719175G>CCA363365129LY6G6C,MPIG6Bc.299C>G (p.Ala100Gly)
n.90+492G>C
c.131C>G (p.Ala44Gly)
6g.31719175G=CA1619276992LY6G6C,MPIG6Bc.299C= (p.Ala100=)
n.90+492G=
c.131C= (p.Ala44=)
6g.31719175G>TCA363365127LY6G6C,MPIG6Bc.299C>A (p.Ala100Glu)
n.90+492G>T
c.131C>A (p.Ala44Glu)
6g.31719176C>ACA363365133LY6G6C,MPIG6Bc.298G>T (p.Ala100Ser)
n.90+493C>A
c.130G>T (p.Ala44Ser)
6g.31719176C=CA1619276993LY6G6C,MPIG6Bc.298G= (p.Ala100=)
n.90+493C=
c.130G= (p.Ala44=)
6g.31719176C>GCA363365135LY6G6C,MPIG6Bc.298G>C (p.Ala100Pro)
n.90+493C>G
c.130G>C (p.Ala44Pro)
6g.31719176C>TCA3720115LY6G6C,MPIG6Bc.298G>A (p.Ala100Thr)
n.90+493C>T
c.130G>A (p.Ala44Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719177G>ACA3720116LY6G6C,MPIG6Bc.297C>T (p.Ser99=)
n.90+494G>A
c.129C>T (p.Ser43=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719177G>CCA363365138LY6G6C,MPIG6Bc.297C>G (p.Ser99Arg)
n.90+494G>C
c.129C>G (p.Ser43Arg)
6g.31719177G=CA1619276994LY6G6C,MPIG6Bc.297C= (p.Ser99=)
n.90+494G=
c.129C= (p.Ser43=)
6g.31719177G>TCA136869988LY6G6C,MPIG6Bc.297C>A (p.Ser99Arg)
n.90+494G>T
c.129C>A (p.Ser43Arg)
dbSNP gnomAD v4
6g.31719178C>ACA363365146LY6G6C,MPIG6Bc.296G>T (p.Ser99Ile)
n.90+495C>A
c.128G>T (p.Ser43Ile)
dbSNP gnomAD v3 gnomAD v4
6g.31719178C=CA1619276995LY6G6C,MPIG6Bc.296G= (p.Ser99=)
n.90+495C=
c.128G= (p.Ser43=)
6g.31719178C>GCA363365150LY6G6C,MPIG6Bc.296G>C (p.Ser99Thr)
n.90+495C>G
c.128G>C (p.Ser43Thr)
6g.31719178C>TCA363365147LY6G6C,MPIG6Bc.296G>A (p.Ser99Asn)
n.90+495C>T
c.128G>A (p.Ser43Asn)
gnomAD v4
6g.31719179T>ACA363365152LY6G6C,MPIG6Bc.295A>T (p.Ser99Cys)
n.90+496T>A
c.127A>T (p.Ser43Cys)
6g.31719179T>CCA363365154LY6G6C,MPIG6Bc.295A>G (p.Ser99Gly)
n.90+496T>C
c.127A>G (p.Ser43Gly)
COSMIC
6g.31719179T>GCA363365156LY6G6C,MPIG6Bc.295A>C (p.Ser99Arg)
n.90+496T>G
c.127A>C (p.Ser43Arg)
6g.31719180G>ACA449669501LY6G6C,MPIG6Bc.294C>T (p.Asn98=)
n.90+497G>A
c.126C>T (p.Asn42=)
6g.31719180G>CCA363365158LY6G6C,MPIG6Bc.294C>G (p.Asn98Lys)
n.90+497G>C
c.126C>G (p.Asn42Lys)
6g.31719180G>TCA363365160LY6G6C,MPIG6Bc.294C>A (p.Asn98Lys)
n.90+497G>T
c.126C>A (p.Asn42Lys)
6g.31719181T>ACA363365161LY6G6C,MPIG6Bc.293A>T (p.Asn98Ile)
n.90+498T>A
c.125A>T (p.Asn42Ile)
6g.31719181T>CCA363365162LY6G6C,MPIG6Bc.293A>G (p.Asn98Ser)
n.90+498T>C
c.125A>G (p.Asn42Ser)
6g.31719181T>GCA363365163LY6G6C,MPIG6Bc.293A>C (p.Asn98Thr)
n.90+498T>G
c.125A>C (p.Asn42Thr)
6g.31719182T>ACA363365166LY6G6C,MPIG6Bc.292A>T (p.Asn98Tyr)
n.90+499T>A
c.124A>T (p.Asn42Tyr)
6g.31719182T>CCA363365167LY6G6C,MPIG6Bc.292A>G (p.Asn98Asp)
n.90+499T>C
c.124A>G (p.Asn42Asp)
6g.31719182T>GCA363365169LY6G6C,MPIG6Bc.292A>C (p.Asn98His)
n.90+499T>G
c.124A>C (p.Asn42His)
6g.31719183G>ACA449669502LY6G6C,MPIG6Bc.291C>T (p.Cys97=)
n.90+500G>A
c.123C>T (p.Cys41=)
6g.31719183G>CCA363365173LY6G6C,MPIG6Bc.291C>G (p.Cys97Trp)
n.90+500G>C
c.123C>G (p.Cys41Trp)
6g.31719183G>TCA363365171LY6G6C,MPIG6Bc.291C>A (p.Cys97Ter)
n.90+500G>T
c.123C>A (p.Cys41Ter)
6g.31719184C>ACA363365176LY6G6C,MPIG6Bc.290G>T (p.Cys97Phe)
n.90+501C>A
c.122G>T (p.Cys41Phe)
gnomAD v4
6g.31719184C>GCA363365179LY6G6C,MPIG6Bc.290G>C (p.Cys97Ser)
n.90+501C>G
c.122G>C (p.Cys41Ser)
gnomAD v4
6g.31719184C>TCA363365178LY6G6C,MPIG6Bc.290G>A (p.Cys97Tyr)
n.90+501C>T
c.122G>A (p.Cys41Tyr)
6g.31719184_31719186delinsCAGCA1619276996LY6G6C,MPIG6Bc.288_290delinsCTG (p.Asn96=)
n.90+501_90+503delinsCAG
c.120_122delinsCTG (p.Asn40=)
6g.31719185A=CA1619276997LY6G6C,MPIG6Bc.289T= (p.Cys97=)
n.90+502A=
c.121T= (p.Cys41=)
6g.31719185A>CCA363365181LY6G6C,MPIG6Bc.289T>G (p.Cys97Gly)
n.90+502A>C
c.121T>G (p.Cys41Gly)
6g.31719185A>GCA3720119LY6G6C,MPIG6Bc.289T>C (p.Cys97Arg)
n.90+502A>G
c.121T>C (p.Cys41Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719185A>TCA3720118LY6G6C,MPIG6Bc.289T>A (p.Cys97Ser)
n.90+502A>T
c.121T>A (p.Cys41Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719185_31719186delCA566691407LY6G6C,MPIG6Bc.288_289del (p.Asn96LysfsTer?)
n.90+502_90+503del
c.120_121del (p.Asn40LysfsTer?)
dbSNP gnomAD v2 gnomAD v4
6g.31719185_31719191delinsAGTTGTCCA1619276998LY6G6C,MPIG6Bc.283_289delinsGACAACT (p.Asp95=)
n.90+502_90+508delinsAGTTGTC
c.115_121delinsGACAACT (p.Asp39=)
6g.31719186G>ACA449669504LY6G6C,MPIG6Bc.288C>T (p.Asn96=)
n.90+503G>A
c.120C>T (p.Asn40=)
6g.31719186G>CCA363365186LY6G6C,MPIG6Bc.288C>G (p.Asn96Lys)
n.90+503G>C
c.120C>G (p.Asn40Lys)
6g.31719186G>TCA363365188LY6G6C,MPIG6Bc.288C>A (p.Asn96Lys)
n.90+503G>T
c.120C>A (p.Asn40Lys)
6g.31719186_31719191delCA3720117LY6G6C,MPIG6Bc.283_288del (p.Asp95_Asn96del)
n.90+503_90+508del
c.115_120del (p.Asp39_Asn40del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719187T>ACA363365191LY6G6C,MPIG6Bc.287A>T (p.Asn96Ile)
n.90+504T>A
c.119A>T (p.Asn40Ile)
6g.31719187T>CCA363365193LY6G6C,MPIG6Bc.287A>G (p.Asn96Ser)
n.90+504T>C
c.119A>G (p.Asn40Ser)
6g.31719187T>GCA363365194LY6G6C,MPIG6Bc.287A>C (p.Asn96Thr)
n.90+504T>G
c.119A>C (p.Asn40Thr)
6g.31719187_31719188dupCA2678026351LY6G6C,MPIG6Bc.286_287dup (p.Asn96LysfsTer?)
n.90+504_90+505dup
c.118_119dup (p.Asn40LysfsTer?)
gnomAD v4
6g.31719188T>ACA363365197LY6G6C,MPIG6Bc.286A>T (p.Asn96Tyr)
n.90+505T>A
c.118A>T (p.Asn40Tyr)
6g.31719188T>CCA363365198LY6G6C,MPIG6Bc.286A>G (p.Asn96Asp)
n.90+505T>C
c.118A>G (p.Asn40Asp)
6g.31719188T>GCA363365200LY6G6C,MPIG6Bc.286A>C (p.Asn96His)
n.90+505T>G
c.118A>C (p.Asn40His)
6g.31719189G>ACA449669507LY6G6C,MPIG6Bc.285C>T (p.Asp95=)
n.90+506G>A
c.117C>T (p.Asp39=)
gnomAD v4
6g.31719189G>CCA363365202LY6G6C,MPIG6Bc.285C>G (p.Asp95Glu)
n.90+506G>C
c.117C>G (p.Asp39Glu)
6g.31719189G>TCA363365204LY6G6C,MPIG6Bc.285C>A (p.Asp95Glu)
n.90+506G>T
c.117C>A (p.Asp39Glu)
6g.31719190T>ACA363365208LY6G6C,MPIG6Bc.284A>T (p.Asp95Val)
n.90+507T>A
c.116A>T (p.Asp39Val)
6g.31719190T>CCA363365210LY6G6C,MPIG6Bc.284A>G (p.Asp95Gly)
n.90+507T>C
c.116A>G (p.Asp39Gly)
gnomAD v4
6g.31719190T>GCA363365211LY6G6C,MPIG6Bc.284A>C (p.Asp95Ala)
n.90+507T>G
c.116A>C (p.Asp39Ala)
6g.31719191C>ACA363365213LY6G6C,MPIG6Bc.283G>T (p.Asp95Tyr)
n.90+508C>A
c.115G>T (p.Asp39Tyr)
6g.31719191C>GCA363365215LY6G6C,MPIG6Bc.283G>C (p.Asp95His)
n.90+508C>G
c.115G>C (p.Asp39His)
6g.31719191C>TCA363365217LY6G6C,MPIG6Bc.283G>A (p.Asp95Asn)
n.90+508C>T
c.115G>A (p.Asp39Asn)
6g.31719192C>ACA363365218LY6G6C,MPIG6Bc.282G>T (p.Lys94Asn)
n.90+509C>A
c.114G>T (p.Lys38Asn)
6g.31719192C>GCA363365220LY6G6C,MPIG6Bc.282G>C (p.Lys94Asn)
n.90+509C>G
c.114G>C (p.Lys38Asn)
6g.31719192C>TCA449669511LY6G6C,MPIG6Bc.282G>A (p.Lys94=)
n.90+509C>T
c.114G>A (p.Lys38=)
6g.31719193T>ACA3720120LY6G6C,MPIG6Bc.281A>T (p.Lys94Met)
n.90+510T>A
c.113A>T (p.Lys38Met)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719193T>CCA363365223LY6G6C,MPIG6Bc.281A>G (p.Lys94Arg)
n.90+510T>C
c.113A>G (p.Lys38Arg)
6g.31719193T>GCA363365225LY6G6C,MPIG6Bc.281A>C (p.Lys94Thr)
n.90+510T>G
c.113A>C (p.Lys38Thr)
6g.31719193T=CA1619276999LY6G6C,MPIG6Bc.281A= (p.Lys94=)
n.90+510T=
c.113A= (p.Lys38=)
6g.31719194T>ACA363365227LY6G6C,MPIG6Bc.280A>T (p.Lys94Ter)
n.90+511T>A
c.112A>T (p.Lys38Ter)
dbSNP gnomAD v2 gnomAD v4
6g.31719194T>CCA363365229LY6G6C,MPIG6Bc.280A>G (p.Lys94Glu)
n.90+511T>C
c.112A>G (p.Lys38Glu)
6g.31719194T>GCA363365230LY6G6C,MPIG6Bc.280A>C (p.Lys94Gln)
n.90+511T>G
c.112A>C (p.Lys38Gln)
6g.31719194T=CA1619277000LY6G6C,MPIG6Bc.280A= (p.Lys94=)
n.90+511T=
c.112A= (p.Lys38=)
6g.31719195G>ACA449669512LY6G6C,MPIG6Bc.279C>T (p.Asn93=)
n.90+512G>A
c.111C>T (p.Asn37=)
6g.31719195G>CCA363365232LY6G6C,MPIG6Bc.279C>G (p.Asn93Lys)
n.90+512G>C
c.111C>G (p.Asn37Lys)
6g.31719195G>TCA363365234LY6G6C,MPIG6Bc.279C>A (p.Asn93Lys)
n.90+512G>T
c.111C>A (p.Asn37Lys)
6g.31719196T>ACA136869995LY6G6C,MPIG6Bc.278A>T (p.Asn93Ile)
n.90+513T>A
c.110A>T (p.Asn37Ile)
dbSNP gnomAD v4
6g.31719196T>CCA363365238LY6G6C,MPIG6Bc.278A>G (p.Asn93Ser)
n.90+513T>C
c.110A>G (p.Asn37Ser)
6g.31719196T>GCA363365236LY6G6C,MPIG6Bc.278A>C (p.Asn93Thr)
n.90+513T>G
c.110A>C (p.Asn37Thr)
6g.31719196T=CA1619277001LY6G6C,MPIG6Bc.278A= (p.Asn93=)
n.90+513T=
c.110A= (p.Asn37=)
6g.31719197T>ACA363365241LY6G6C,MPIG6Bc.277A>T (p.Asn93Tyr)
n.90+514T>A
c.109A>T (p.Asn37Tyr)
6g.31719197T>CCA363365245LY6G6C,MPIG6Bc.277A>G (p.Asn93Asp)
n.90+514T>C
c.109A>G (p.Asn37Asp)
6g.31719197T>GCA363365242LY6G6C,MPIG6Bc.277A>C (p.Asn93His)
n.90+514T>G
c.109A>C (p.Asn37His)
6g.31719198G>ACA449669516LY6G6C,MPIG6Bc.276C>T (p.Cys92=)
n.90+515G>A
c.108C>T (p.Cys36=)
6g.31719198G>CCA363365247LY6G6C,MPIG6Bc.276C>G (p.Cys92Trp)
n.90+515G>C
c.108C>G (p.Cys36Trp)
6g.31719198G>TCA363365249LY6G6C,MPIG6Bc.276C>A (p.Cys92Ter)
n.90+515G>T
c.108C>A (p.Cys36Ter)
6g.31719199C>ACA363365251LY6G6C,MPIG6Bc.275G>T (p.Cys92Phe)
n.90+516C>A
c.107G>T (p.Cys36Phe)
6g.31719199C>GCA363365253LY6G6C,MPIG6Bc.275G>C (p.Cys92Ser)
n.90+516C>G
c.107G>C (p.Cys36Ser)
gnomAD v4
6g.31719199C>TCA363365254LY6G6C,MPIG6Bc.275G>A (p.Cys92Tyr)
n.90+516C>T
c.107G>A (p.Cys36Tyr)
6g.31719200A=CA1619277002LY6G6C,MPIG6Bc.274T= (p.Cys92=)
n.90+517A=
c.106T= (p.Cys36=)
6g.31719200A>CCA363365257LY6G6C,MPIG6Bc.274T>G (p.Cys92Gly)
n.90+517A>C
c.106T>G (p.Cys36Gly)
6g.31719200A>GCA3720121LY6G6C,MPIG6Bc.274T>C (p.Cys92Arg)
n.90+517A>G
c.106T>C (p.Cys36Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719200A>TCA363365259LY6G6C,MPIG6Bc.274T>A (p.Cys92Ser)
n.90+517A>T
c.106T>A (p.Cys36Ser)
6g.31719201G>ACA449669517LY6G6C,MPIG6Bc.273C>T (p.Cys91=)
n.90+518G>A
c.105C>T (p.Cys35=)
COSMIC
6g.31719201G>CCA363365261LY6G6C,MPIG6Bc.273C>G (p.Cys91Trp)
n.90+518G>C
c.105C>G (p.Cys35Trp)
6g.31719201G>TCA363365266LY6G6C,MPIG6Bc.273C>A (p.Cys91Ter)
n.90+518G>T
c.105C>A (p.Cys35Ter)
COSMIC
6g.31719202C>ACA363365268LY6G6C,MPIG6Bc.272G>T (p.Cys91Phe)
n.90+519C>A
c.104G>T (p.Cys35Phe)
6g.31719202C=CA1619277003LY6G6C,MPIG6Bc.272G= (p.Cys91=)
n.90+519C=
c.104G= (p.Cys35=)
6g.31719202C>GCA363365270LY6G6C,MPIG6Bc.272G>C (p.Cys91Ser)
n.90+519C>G
c.104G>C (p.Cys35Ser)
6g.31719202C>TCA363365272LY6G6C,MPIG6Bc.272G>A (p.Cys91Tyr)
n.90+519C>T
c.104G>A (p.Cys35Tyr)
dbSNP
6g.31719203A=CA1619277004LY6G6C,MPIG6Bc.271T= (p.Cys91=)
n.90+520A=
c.103T= (p.Cys35=)
6g.31719203A>CCA363365277LY6G6C,MPIG6Bc.271T>G (p.Cys91Gly)
n.90+520A>C
c.103T>G (p.Cys35Gly)
6g.31719203A>GCA363365274LY6G6C,MPIG6Bc.271T>C (p.Cys91Arg)
n.90+520A>G
c.103T>C (p.Cys35Arg)
dbSNP gnomAD v2 gnomAD v4
6g.31719203A>TCA363365275LY6G6C,MPIG6Bc.271T>A (p.Cys91Ser)
n.90+520A>T
c.103T>A (p.Cys35Ser)
6g.31719204G>ACA449669519LY6G6C,MPIG6Bc.270C>T (p.Thr90=)
n.90+521G>A
c.102C>T (p.Thr34=)
dbSNP gnomAD v3 gnomAD v4
6g.31719204G>CCA449669520LY6G6C,MPIG6Bc.270C>G (p.Thr90=)
n.90+521G>C
c.102C>G (p.Thr34=)
6g.31719204G=CA1619277005LY6G6C,MPIG6Bc.270C= (p.Thr90=)
n.90+521G=
c.102C= (p.Thr34=)
6g.31719204G>TCA449669521LY6G6C,MPIG6Bc.270C>A (p.Thr90=)
n.90+521G>T
c.102C>A (p.Thr34=)
6g.31719205G>ACA363365279LY6G6C,MPIG6Bc.269C>T (p.Thr90Ile)
n.90+522G>A
c.101C>T (p.Thr34Ile)
dbSNP gnomAD v2 gnomAD v4
6g.31719205G>CCA363365281LY6G6C,MPIG6Bc.269C>G (p.Thr90Ser)
n.90+522G>C
c.101C>G (p.Thr34Ser)
6g.31719205G=CA1619277006LY6G6C,MPIG6Bc.269C= (p.Thr90=)
n.90+522G=
c.101C= (p.Thr34=)
6g.31719205G>TCA363365283LY6G6C,MPIG6Bc.269C>A (p.Thr90Asn)
n.90+522G>T
c.101C>A (p.Thr34Asn)
6g.31719206T>ACA363365286LY6G6C,MPIG6Bc.268A>T (p.Thr90Ser)
n.90+523T>A
c.100A>T (p.Thr34Ser)
6g.31719206T>CCA363365287LY6G6C,MPIG6Bc.268A>G (p.Thr90Ala)
n.90+523T>C
c.100A>G (p.Thr34Ala)
gnomAD v4
6g.31719206T>GCA363365289LY6G6C,MPIG6Bc.268A>C (p.Thr90Pro)
n.90+523T>G
c.100A>C (p.Thr34Pro)
dbSNP gnomAD v2 gnomAD v4
6g.31719206T=CA1619277007LY6G6C,MPIG6Bc.268A= (p.Thr90=)
n.90+523T=
c.100A= (p.Thr34=)
6g.31719207G>ACA449669523LY6G6C,MPIG6Bc.267C>T (p.Thr89=)
n.90+524G>A
c.99C>T (p.Thr33=)
gnomAD v4
6g.31719207G>CCA449669524LY6G6C,MPIG6Bc.267C>G (p.Thr89=)
n.90+524G>C
c.99C>G (p.Thr33=)
6g.31719207G>TCA449669525LY6G6C,MPIG6Bc.267C>A (p.Thr89=)
n.90+524G>T
c.99C>A (p.Thr33=)
6g.31719208G>ACA363365292LY6G6C,MPIG6Bc.266C>T (p.Thr89Ile)
n.90+525G>A
c.98C>T (p.Thr33Ile)
6g.31719208G>CCA363365294LY6G6C,MPIG6Bc.266C>G (p.Thr89Ser)
n.90+525G>C
c.98C>G (p.Thr33Ser)
gnomAD v4 COSMIC
6g.31719208G>TCA363365296LY6G6C,MPIG6Bc.266C>A (p.Thr89Asn)
n.90+525G>T
c.98C>A (p.Thr33Asn)
gnomAD v4
6g.31719209T>ACA363365297LY6G6C,MPIG6Bc.265A>T (p.Thr89Ser)
n.90+526T>A
c.97A>T (p.Thr33Ser)
6g.31719209T>CCA363365298LY6G6C,MPIG6Bc.265A>G (p.Thr89Ala)
n.90+526T>C
c.97A>G (p.Thr33Ala)
6g.31719209T>GCA363365300LY6G6C,MPIG6Bc.265A>C (p.Thr89Pro)
n.90+526T>G
c.97A>C (p.Thr33Pro)
6g.31719210G>ACA449669526LY6G6C,MPIG6Bc.264C>T (p.Asn88=)
n.90+527G>A
c.96C>T (p.Asn32=)
6g.31719210G>CCA363365303LY6G6C,MPIG6Bc.264C>G (p.Asn88Lys)
n.90+527G>C
c.96C>G (p.Asn32Lys)
6g.31719210G>TCA363365304LY6G6C,MPIG6Bc.264C>A (p.Asn88Lys)
n.90+527G>T
c.96C>A (p.Asn32Lys)
6g.31719211T>ACA363365305LY6G6C,MPIG6Bc.263A>T (p.Asn88Ile)
n.90+528T>A
c.95A>T (p.Asn32Ile)
6g.31719211T>CCA363365306LY6G6C,MPIG6Bc.263A>G (p.Asn88Ser)
n.90+528T>C
c.95A>G (p.Asn32Ser)
6g.31719211T>GCA363365307LY6G6C,MPIG6Bc.263A>C (p.Asn88Thr)
n.90+528T>G
c.95A>C (p.Asn32Thr)
6g.31719212T>ACA363365308LY6G6C,MPIG6Bc.262A>T (p.Asn88Tyr)
n.90+529T>A
c.94A>T (p.Asn32Tyr)
6g.31719212T>CCA363365309LY6G6C,MPIG6Bc.262A>G (p.Asn88Asp)
n.90+529T>C
c.94A>G (p.Asn32Asp)
gnomAD v4
6g.31719212T>GCA363365310LY6G6C,MPIG6Bc.262A>C (p.Asn88His)
n.90+529T>G
c.94A>C (p.Asn32His)
6g.31719213A>CCA363365312LY6G6C,MPIG6Bc.261T>G (p.Tyr87Ter)
n.90+530A>C
c.93T>G (p.Tyr31Ter)
6g.31719213A>GCA449669528LY6G6C,MPIG6Bc.261T>C (p.Tyr87=)
n.90+530A>G
c.93T>C (p.Tyr31=)
gnomAD v4
6g.31719213A>TCA363365311LY6G6C,MPIG6Bc.261T>A (p.Tyr87Ter)
n.90+530A>T
c.93T>A (p.Tyr31Ter)
6g.31719213dupCA2678026455LY6G6C,MPIG6Bc.261dup (p.Asn88Ter)
n.90+530dup
c.93dup (p.Asn32Ter)
gnomAD v4
6g.31719214T>ACA363365313LY6G6C,MPIG6Bc.260A>T (p.Tyr87Phe)
n.90+531T>A
c.92A>T (p.Tyr31Phe)
6g.31719214T>CCA363365314LY6G6C,MPIG6Bc.260A>G (p.Tyr87Cys)
n.90+531T>C
c.92A>G (p.Tyr31Cys)
gnomAD v4
6g.31719214T>GCA363365315LY6G6C,MPIG6Bc.260A>C (p.Tyr87Ser)
n.90+531T>G
c.92A>C (p.Tyr31Ser)
6g.31719215A=CA1619277008LY6G6C,MPIG6Bc.259T= (p.Tyr87=)
n.90+532A=
c.91T= (p.Tyr31=)
6g.31719215A>CCA363365316LY6G6C,MPIG6Bc.259T>G (p.Tyr87Asp)
n.90+532A>C
c.91T>G (p.Tyr31Asp)
6g.31719215A>GCA363365317LY6G6C,MPIG6Bc.259T>C (p.Tyr87His)
n.90+532A>G
c.91T>C (p.Tyr31His)
dbSNP gnomAD v3 gnomAD v4
6g.31719215A>TCA363365318LY6G6C,MPIG6Bc.259T>A (p.Tyr87Asn)
n.90+532A>T
c.91T>A (p.Tyr31Asn)
6g.31719216T>ACA449669534LY6G6C,MPIG6Bc.258A>T (p.Thr86=)
n.90+533T>A
c.90A>T (p.Thr30=)
6g.31719216T>CCA449669532LY6G6C,MPIG6Bc.258A>G (p.Thr86=)
n.90+533T>C
c.90A>G (p.Thr30=)
6g.31719216T>GCA449669530LY6G6C,MPIG6Bc.258A>C (p.Thr86=)
n.90+533T>G
c.90A>C (p.Thr30=)
gnomAD v4
6g.31719217G>ACA363365319LY6G6C,MPIG6Bc.257C>T (p.Thr86Ile)
n.90+534G>A
c.89C>T (p.Thr30Ile)
dbSNP gnomAD v3 gnomAD v4
6g.31719217G>CCA363365321LY6G6C,MPIG6Bc.257C>G (p.Thr86Arg)
n.90+534G>C
c.89C>G (p.Thr30Arg)
6g.31719217G=CA1619277009LY6G6C,MPIG6Bc.257C= (p.Thr86=)
n.90+534G=
c.89C= (p.Thr30=)
6g.31719217G>TCA363365320LY6G6C,MPIG6Bc.257C>A (p.Thr86Lys)
n.90+534G>T
c.89C>A (p.Thr30Lys)
6g.31719218T>ACA363365322LY6G6C,MPIG6Bc.256A>T (p.Thr86Ser)
n.90+535T>A
c.88A>T (p.Thr30Ser)
6g.31719218T>CCA363365323LY6G6C,MPIG6Bc.256A>G (p.Thr86Ala)
n.90+535T>C
c.88A>G (p.Thr30Ala)
dbSNP gnomAD v3 gnomAD v4
6g.31719218T>GCA363365324LY6G6C,MPIG6Bc.256A>C (p.Thr86Pro)
n.90+535T>G
c.88A>C (p.Thr30Pro)
dbSNP gnomAD v3 gnomAD v4
6g.31719218T=CA1619277010LY6G6C,MPIG6Bc.256A= (p.Thr86=)
n.90+535T=
c.88A= (p.Thr30=)
6g.31719219C>ACA449669535LY6G6C,MPIG6Bc.255G>T (p.Leu85=)
n.90+536C>A
c.87G>T (p.Leu29=)
6g.31719219C>GCA449669536LY6G6C,MPIG6Bc.255G>C (p.Leu85=)
n.90+536C>G
c.87G>C (p.Leu29=)
6g.31719219C>TCA449669537LY6G6C,MPIG6Bc.255G>A (p.Leu85=)
n.90+536C>T
c.87G>A (p.Leu29=)
6g.31719220A>CCA363365325LY6G6C,MPIG6Bc.254T>G (p.Leu85Arg)
n.90+537A>C
c.86T>G (p.Leu29Arg)
6g.31719220A>GCA363365326LY6G6C,MPIG6Bc.254T>C (p.Leu85Pro)
n.90+537A>G
c.86T>C (p.Leu29Pro)
6g.31719220A>TCA363365327LY6G6C,MPIG6Bc.254T>A (p.Leu85Gln)
n.90+537A>T
c.86T>A (p.Leu29Gln)
6g.31719221G>ACA449669538LY6G6C,MPIG6Bc.253C>T (p.Leu85=)
n.90+538G>A
c.85C>T (p.Leu29=)
6g.31719221G>CCA363365328LY6G6C,MPIG6Bc.253C>G (p.Leu85Val)
n.90+538G>C
c.85C>G (p.Leu29Val)
6g.31719221G>TCA363365329LY6G6C,MPIG6Bc.253C>A (p.Leu85Met)
n.90+538G>T
c.85C>A (p.Leu29Met)
6g.31719222A>CCA449669541LY6G6C,MPIG6Bc.252T>G (p.Gly84=)
n.90+539A>C
c.84T>G (p.Gly28=)
6g.31719222A>GCA449669544LY6G6C,MPIG6Bc.252T>C (p.Gly84=)
n.90+539A>G
c.84T>C (p.Gly28=)
6g.31719222A>TCA449669543LY6G6C,MPIG6Bc.252T>A (p.Gly84=)
n.90+539A>T
c.84T>A (p.Gly28=)
6g.31719223C>ACA363365330LY6G6C,MPIG6Bc.251G>T (p.Gly84Val)
n.90+540C>A
c.83G>T (p.Gly28Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31719223C=CA1619277011LY6G6C,MPIG6Bc.251G= (p.Gly84=)
n.90+540C=
c.83G= (p.Gly28=)
6g.31719223C>GCA363365331LY6G6C,MPIG6Bc.251G>C (p.Gly84Ala)
n.90+540C>G
c.83G>C (p.Gly28Ala)
6g.31719223C>TCA363365332LY6G6C,MPIG6Bc.251G>A (p.Gly84Asp)
n.90+540C>T
c.83G>A (p.Gly28Asp)
6g.31719224C>ACA363365333LY6G6C,MPIG6Bc.250G>T (p.Gly84Cys)
n.90+541C>A
c.82G>T (p.Gly28Cys)
dbSNP gnomAD v3 gnomAD v4
6g.31719224C=CA1619277012LY6G6C,MPIG6Bc.250G= (p.Gly84=)
n.90+541C=
c.82G= (p.Gly28=)
6g.31719224C>GCA363365335LY6G6C,MPIG6Bc.250G>C (p.Gly84Arg)
n.90+541C>G
c.82G>C (p.Gly28Arg)
6g.31719224C>TCA363365334LY6G6C,MPIG6Bc.250G>A (p.Gly84Ser)
n.90+541C>T
c.82G>A (p.Gly28Ser)
6g.31719225C>ACA449669545LY6G6C,MPIG6Bc.249G>T (p.Leu83=)
n.90+542C>A
c.81G>T (p.Leu27=)
6g.31719225C=CA1619277013LY6G6C,MPIG6Bc.249G= (p.Leu83=)
n.90+542C=
c.81G= (p.Leu27=)
6g.31719225C>GCA449669546LY6G6C,MPIG6Bc.249G>C (p.Leu83=)
n.90+542C>G
c.81G>C (p.Leu27=)
6g.31719225C>TCA136869997LY6G6C,MPIG6Bc.249G>A (p.Leu83=)
n.90+542C>T
c.81G>A (p.Leu27=)
dbSNP
6g.31719226A=CA1619277014LY6G6C,MPIG6Bc.248T= (p.Leu83=)
n.90+543A=
c.80T= (p.Leu27=)
6g.31719226A>CCA363365337LY6G6C,MPIG6Bc.248T>G (p.Leu83Arg)
n.90+543A>C
c.80T>G (p.Leu27Arg)
6g.31719226A>GCA136869998LY6G6C,MPIG6Bc.248T>C (p.Leu83Pro)
n.90+543A>G
c.80T>C (p.Leu27Pro)
dbSNP gnomAD v4
6g.31719226A>TCA363365340LY6G6C,MPIG6Bc.248T>A (p.Leu83Gln)
n.90+543A>T
c.80T>A (p.Leu27Gln)
6g.31719227G>ACA449669548LY6G6C,MPIG6Bc.247C>T (p.Leu83=)
n.90+544G>A
c.79C>T (p.Leu27=)
6g.31719227G>CCA363365342LY6G6C,MPIG6Bc.247C>G (p.Leu83Val)
n.90+544G>C
c.79C>G (p.Leu27Val)
gnomAD v4
6g.31719227G>TCA363365344LY6G6C,MPIG6Bc.247C>A (p.Leu83Met)
n.90+544G>T
c.79C>A (p.Leu27Met)
6g.31719228C>ACA363365346LY6G6C,MPIG6Bc.246G>T (p.Lys82Asn)
n.90+545C>A
c.78G>T (p.Lys26Asn)
6g.31719228C=CA1619277015LY6G6C,MPIG6Bc.246G= (p.Lys82=)
n.90+545C=
c.78G= (p.Lys26=)
6g.31719228C>GCA363365348LY6G6C,MPIG6Bc.246G>C (p.Lys82Asn)
n.90+545C>G
c.78G>C (p.Lys26Asn)
6g.31719228C>TCA449669551LY6G6C,MPIG6Bc.246G>A (p.Lys82=)
n.90+545C>T
c.78G>A (p.Lys26=)
6g.31719229T>ACA363365350LY6G6C,MPIG6Bc.245A>T (p.Lys82Met)
n.90+546T>A
c.77A>T (p.Lys26Met)
6g.31719229T>CCA363365352LY6G6C,MPIG6Bc.245A>G (p.Lys82Arg)
n.90+546T>C
c.77A>G (p.Lys26Arg)
6g.31719229T>GCA363365351LY6G6C,MPIG6Bc.245A>C (p.Lys82Thr)
n.90+546T>G
c.77A>C (p.Lys26Thr)
6g.31719230dupCA136869999LY6G6C,MPIG6Bc.245dup (p.Leu83AlafsTer6)
n.90+547dup
c.77dup (p.Leu27AlafsTer6)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31719230T>ACA363365355LY6G6C,MPIG6Bc.244A>T (p.Lys82Ter)
n.90+547T>A
c.76A>T (p.Lys26Ter)
6g.31719230T>CCA363365356LY6G6C,MPIG6Bc.244A>G (p.Lys82Glu)
n.90+547T>C
c.76A>G (p.Lys26Glu)
6g.31719230T>GCA363365357LY6G6C,MPIG6Bc.244A>C (p.Lys82Gln)
n.90+547T>G
c.76A>C (p.Lys26Gln)
6g.31719231G>ACA3720122LY6G6C,MPIG6Bc.243C>T (p.Arg81=)
n.90+548G>A
c.75C>T (p.Arg25=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719231G>CCA449669552LY6G6C,MPIG6Bc.243C>G (p.Arg81=)
n.90+548G>C
c.75C>G (p.Arg25=)
6g.31719231G=CA1619277016LY6G6C,MPIG6Bc.243C= (p.Arg81=)
n.90+548G=
c.75C= (p.Arg25=)
6g.31719231G>TCA449669553LY6G6C,MPIG6Bc.243C>A (p.Arg81=)
n.90+548G>T
c.75C>A (p.Arg25=)
6g.31719232C>ACA363365362LY6G6C,MPIG6Bc.242G>T (p.Arg81Leu)
n.90+549C>A
c.74G>T (p.Arg25Leu)
6g.31719232C=CA1619277017LY6G6C,MPIG6Bc.242G= (p.Arg81=)
n.90+549C=
c.74G= (p.Arg25=)
6g.31719232C>GCA363365361LY6G6C,MPIG6Bc.242G>C (p.Arg81Pro)
n.90+549C>G
c.74G>C (p.Arg25Pro)
6g.31719232C>TCA3720123LY6G6C,MPIG6Bc.242G>A (p.Arg81His)
n.90+549C>T
c.74G>A (p.Arg25His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.31719233G>ACA3720124LY6G6C,MPIG6Bc.241C>T (p.Arg81Cys)
n.90+550G>A
c.73C>T (p.Arg25Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719233G>CCA363365366LY6G6C,MPIG6Bc.241C>G (p.Arg81Gly)
n.90+550G>C
c.73C>G (p.Arg25Gly)
6g.31719233G=CA1619277018LY6G6C,MPIG6Bc.241C= (p.Arg81=)
n.90+550G=
c.73C= (p.Arg25=)
6g.31719233G>TCA363365368LY6G6C,MPIG6Bc.241C>A (p.Arg81Ser)
n.90+550G>T
c.73C>A (p.Arg25Ser)
dbSNP gnomAD v3 gnomAD v4
6g.31719237_31719240dupCA2678026506LY6G6C,MPIG6Bc.238_241dup (p.Arg81GlnfsTer9)
n.90+554_90+557dup
c.70_73dup (p.Arg25GlnfsTer9)
gnomAD v4
6g.31719234G>ACA3720125LY6G6C,MPIG6Bc.240C>T (p.Asn80=)
n.90+551G>A
c.72C>T (p.Asn24=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719234G>CCA363365370LY6G6C,MPIG6Bc.240C>G (p.Asn80Lys)
n.90+551G>C
c.72C>G (p.Asn24Lys)
6g.31719234G=CA1619277019LY6G6C,MPIG6Bc.240C= (p.Asn80=)
n.90+551G=
c.72C= (p.Asn24=)
6g.31719234G>TCA363365372LY6G6C,MPIG6Bc.240C>A (p.Asn80Lys)
n.90+551G>T
c.72C>A (p.Asn24Lys)
6g.31719235T>ACA363365374LY6G6C,MPIG6Bc.239A>T (p.Asn80Ile)
n.90+552T>A
c.71A>T (p.Asn24Ile)
6g.31719235T>CCA3720126LY6G6C,MPIG6Bc.239A>G (p.Asn80Ser)
n.90+552T>C
c.71A>G (p.Asn24Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719235T>GCA363365377LY6G6C,MPIG6Bc.239A>C (p.Asn80Thr)
n.90+552T>G
c.71A>C (p.Asn24Thr)
6g.31719235T=CA1619277020LY6G6C,MPIG6Bc.239A= (p.Asn80=)
n.90+552T=
c.71A= (p.Asn24=)

Number of alleles fetched