| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.113113851G>A | CA485020346 | F7 | c.255G>A (p.Gly85=) c.321G>A (p.Gly107=) c.*63G>A (n.*63G>A) n.202G>A n.588G>A c.69G>A (p.Gly23=) n.342G>A c.216G>A (p.Gly72=) c.300G>A (p.Gly100=) c.114G>A (p.Gly38=) n.339G>A | |
| 13 | g.113113851G>C | CA485020347 | F7 | c.255G>C (p.Gly85=) c.321G>C (p.Gly107=) c.*63G>C (n.*63G>C) n.202G>C n.588G>C c.69G>C (p.Gly23=) n.342G>C c.216G>C (p.Gly72=) c.300G>C (p.Gly100=) c.114G>C (p.Gly38=) n.339G>C | |
| 13 | g.113113851G>T | CA485020348 | F7 | c.255G>T (p.Gly85=) c.321G>T (p.Gly107=) c.*63G>T (n.*63G>T) n.202G>T n.588G>T c.69G>T (p.Gly23=) n.342G>T c.216G>T (p.Gly72=) c.300G>T (p.Gly100=) c.114G>T (p.Gly38=) n.339G>T | |
| 13 | g.113113852G>A | CA256458240 | F7 | c.256G>A (p.Asp86Asn) c.322G>A (p.Asp108Asn) c.*64G>A (n.*64G>A) n.203G>A n.589G>A c.70G>A (p.Asp24Asn) n.343G>A c.217G>A (p.Asp73Asn) c.301G>A (p.Asp101Asn) c.115G>A (p.Asp39Asn) n.340G>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113113852G>C | CA388782103 | F7 | c.256G>C (p.Asp86His) c.322G>C (p.Asp108His) c.*64G>C (n.*64G>C) n.203G>C n.589G>C c.70G>C (p.Asp24His) n.343G>C c.217G>C (p.Asp73His) c.301G>C (p.Asp101His) c.115G>C (p.Asp39His) n.340G>C | |
| 13 | g.113113852G= | CA2120135545 | F7 | c.256G= (p.Asp86=) c.322G= (p.Asp108=) c.*64G= (n.*64G=) n.203G= n.589G= c.70G= (p.Asp24=) n.343G= c.217G= (p.Asp73=) c.301G= (p.Asp101=) c.115G= (p.Asp39=) n.340G= | |
| 13 | g.113113852G>T | CA388782105 | F7 | c.256G>T (p.Asp86Tyr) c.322G>T (p.Asp108Tyr) c.*64G>T (n.*64G>T) n.203G>T n.589G>T c.70G>T (p.Asp24Tyr) n.343G>T c.217G>T (p.Asp73Tyr) c.301G>T (p.Asp101Tyr) c.115G>T (p.Asp39Tyr) n.340G>T | |
| 13 | g.113113853A>C | CA388782107 | F7 | c.257A>C (p.Asp86Ala) c.323A>C (p.Asp108Ala) c.*65A>C (n.*65A>C) n.204A>C n.590A>C c.71A>C (p.Asp24Ala) n.344A>C c.218A>C (p.Asp73Ala) c.302A>C (p.Asp101Ala) c.116A>C (p.Asp39Ala) n.341A>C | |
| 13 | g.113113853A>G | CA388782108 | F7 | c.257A>G (p.Asp86Gly) c.323A>G (p.Asp108Gly) c.*65A>G (n.*65A>G) n.204A>G n.590A>G c.71A>G (p.Asp24Gly) n.344A>G c.218A>G (p.Asp73Gly) c.302A>G (p.Asp101Gly) c.116A>G (p.Asp39Gly) n.341A>G | gnomAD v4 |
| 13 | g.113113853A>T | CA388782110 | F7 | c.257A>T (p.Asp86Val) c.323A>T (p.Asp108Val) c.*65A>T (n.*65A>T) n.204A>T n.590A>T c.71A>T (p.Asp24Val) n.344A>T c.218A>T (p.Asp73Val) c.302A>T (p.Asp101Val) c.116A>T (p.Asp39Val) n.341A>T | |
| 13 | g.113113854C>A | CA388782112 | F7 | c.258C>A (p.Asp86Glu) c.324C>A (p.Asp108Glu) c.*66C>A (n.*66C>A) n.205C>A n.591C>A c.72C>A (p.Asp24Glu) n.345C>A c.219C>A (p.Asp73Glu) c.303C>A (p.Asp101Glu) c.117C>A (p.Asp39Glu) n.342C>A | |
| 13 | g.113113854C= | CA2120135551 | F7 | c.258C= (p.Asp86=) c.324C= (p.Asp108=) c.*66C= (n.*66C=) n.205C= n.591C= c.72C= (p.Asp24=) n.345C= c.219C= (p.Asp73=) c.303C= (p.Asp101=) c.117C= (p.Asp39=) n.342C= | |
| 13 | g.113113854C>G | CA388782113 | F7 | c.258C>G (p.Asp86Glu) c.324C>G (p.Asp108Glu) c.*66C>G (n.*66C>G) n.205C>G n.591C>G c.72C>G (p.Asp24Glu) n.345C>G c.219C>G (p.Asp73Glu) c.303C>G (p.Asp101Glu) c.117C>G (p.Asp39Glu) n.342C>G | |
| 13 | g.113113854C>T | CA485020350 | F7 | c.258C>T (p.Asp86=) c.324C>T (p.Asp108=) c.*66C>T (n.*66C>T) n.205C>T n.591C>T c.72C>T (p.Asp24=) n.345C>T c.219C>T (p.Asp73=) c.303C>T (p.Asp101=) c.117C>T (p.Asp39=) n.342C>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113113855C>A | CA388782115 | F7 | c.259C>A (p.Gln87Lys) c.325C>A (p.Gln109Lys) c.*67C>A (n.*67C>A) n.206C>A n.592C>A c.73C>A (p.Gln25Lys) n.346C>A c.220C>A (p.Gln74Lys) c.304C>A (p.Gln102Lys) c.118C>A (p.Gln40Lys) n.343C>A | gnomAD v4 |
| 13 | g.113113855C>G | CA388782117 | F7 | c.259C>G (p.Gln87Glu) c.325C>G (p.Gln109Glu) c.*67C>G (n.*67C>G) n.206C>G n.592C>G c.73C>G (p.Gln25Glu) n.346C>G c.220C>G (p.Gln74Glu) c.304C>G (p.Gln102Glu) c.118C>G (p.Gln40Glu) n.343C>G | |
| 13 | g.113113855C>T | CA388782119 | F7 | c.259C>T (p.Gln87Ter) c.325C>T (p.Gln109Ter) c.*67C>T (n.*67C>T) n.206C>T n.592C>T c.73C>T (p.Gln25Ter) n.346C>T c.220C>T (p.Gln74Ter) c.304C>T (p.Gln102Ter) c.118C>T (p.Gln40Ter) n.343C>T | gnomAD v4 |
| 13 | g.113113856A>C | CA388782120 | F7 | c.260A>C (p.Gln87Pro) c.326A>C (p.Gln109Pro) c.*68A>C (n.*68A>C) n.207A>C n.593A>C c.74A>C (p.Gln25Pro) n.347A>C c.221A>C (p.Gln74Pro) c.305A>C (p.Gln102Pro) c.119A>C (p.Gln40Pro) n.344A>C | |
| 13 | g.113113856A>G | CA388782121 | F7 | c.260A>G (p.Gln87Arg) c.326A>G (p.Gln109Arg) c.*68A>G (n.*68A>G) n.207A>G n.593A>G c.74A>G (p.Gln25Arg) n.347A>G c.221A>G (p.Gln74Arg) c.305A>G (p.Gln102Arg) c.119A>G (p.Gln40Arg) n.344A>G | gnomAD v4 |
| 13 | g.113113856A>T | CA388782123 | F7 | c.260A>T (p.Gln87Leu) c.326A>T (p.Gln109Leu) c.*68A>T (n.*68A>T) n.207A>T n.593A>T c.74A>T (p.Gln25Leu) n.347A>T c.221A>T (p.Gln74Leu) c.305A>T (p.Gln102Leu) c.119A>T (p.Gln40Leu) n.344A>T | |
| 13 | g.113113857G>A | CA485020351 | F7 | c.261G>A (p.Gln87=) c.327G>A (p.Gln109=) c.*69G>A (n.*69G>A) n.208G>A n.594G>A c.75G>A (p.Gln25=) n.348G>A c.222G>A (p.Gln74=) c.306G>A (p.Gln102=) c.120G>A (p.Gln40=) n.345G>A | |
| 13 | g.113113857G>C | CA388782127 | F7 | c.261G>C (p.Gln87His) c.327G>C (p.Gln109His) c.*69G>C (n.*69G>C) n.208G>C n.594G>C c.75G>C (p.Gln25His) n.348G>C c.222G>C (p.Gln74His) c.306G>C (p.Gln102His) c.120G>C (p.Gln40His) n.345G>C | |
| 13 | g.113113857G>T | CA388782125 | F7 | c.261G>T (p.Gln87His) c.327G>T (p.Gln109His) c.*69G>T (n.*69G>T) n.208G>T n.594G>T c.75G>T (p.Gln25His) n.348G>T c.222G>T (p.Gln74His) c.306G>T (p.Gln102His) c.120G>T (p.Gln40His) n.345G>T | |
| 13 | g.113113858T>A | CA388782128 | F7 | c.262T>A (p.Cys88Ser) c.328T>A (p.Cys110Ser) c.*70T>A (n.*70T>A) n.209T>A n.595T>A c.76T>A (p.Cys26Ser) n.349T>A c.223T>A (p.Cys75Ser) c.307T>A (p.Cys103Ser) c.121T>A (p.Cys41Ser) n.346T>A | |
| 13 | g.113113858T>C | CA388782129 | F7 | c.262T>C (p.Cys88Arg) c.328T>C (p.Cys110Arg) c.*70T>C (n.*70T>C) n.209T>C n.595T>C c.76T>C (p.Cys26Arg) n.349T>C c.223T>C (p.Cys75Arg) c.307T>C (p.Cys103Arg) c.121T>C (p.Cys41Arg) n.346T>C | |
| 13 | g.113113858T>G | CA388782130 | F7 | c.262T>G (p.Cys88Gly) c.328T>G (p.Cys110Gly) c.*70T>G (n.*70T>G) n.209T>G n.595T>G c.76T>G (p.Cys26Gly) n.349T>G c.223T>G (p.Cys75Gly) c.307T>G (p.Cys103Gly) c.121T>G (p.Cys41Gly) n.346T>G | |
| 13 | g.113113859G>A | CA388782132 | F7 | c.263G>A (p.Cys88Tyr) c.329G>A (p.Cys110Tyr) c.*71G>A (n.*71G>A) n.210G>A n.596G>A c.77G>A (p.Cys26Tyr) n.350G>A c.224G>A (p.Cys75Tyr) c.308G>A (p.Cys103Tyr) c.122G>A (p.Cys41Tyr) n.347G>A | gnomAD v4 |
| 13 | g.113113859G>C | CA388782134 | F7 | c.263G>C (p.Cys88Ser) c.329G>C (p.Cys110Ser) c.*71G>C (n.*71G>C) n.210G>C n.596G>C c.77G>C (p.Cys26Ser) n.350G>C c.224G>C (p.Cys75Ser) c.308G>C (p.Cys103Ser) c.122G>C (p.Cys41Ser) n.347G>C | |
| 13 | g.113113859G>T | CA388782135 | F7 | c.263G>T (p.Cys88Phe) c.329G>T (p.Cys110Phe) c.*71G>T (n.*71G>T) n.210G>T n.596G>T c.77G>T (p.Cys26Phe) n.350G>T c.224G>T (p.Cys75Phe) c.308G>T (p.Cys103Phe) c.122G>T (p.Cys41Phe) n.347G>T | |
| 13 | g.113113860T>A | CA388782138 | F7 | c.264T>A (p.Cys88Ter) c.330T>A (p.Cys110Ter) c.*72T>A (n.*72T>A) n.211T>A n.597T>A c.78T>A (p.Cys26Ter) n.351T>A c.225T>A (p.Cys75Ter) c.309T>A (p.Cys103Ter) c.123T>A (p.Cys41Ter) n.348T>A | |
| 13 | g.113113860T>C | CA485020352 | F7 | c.264T>C (p.Cys88=) c.330T>C (p.Cys110=) c.*72T>C (n.*72T>C) n.211T>C n.597T>C c.78T>C (p.Cys26=) n.351T>C c.225T>C (p.Cys75=) c.309T>C (p.Cys103=) c.123T>C (p.Cys41=) n.348T>C | |
| 13 | g.113113860T>G | CA388782136 | F7 | c.264T>G (p.Cys88Trp) c.330T>G (p.Cys110Trp) c.*72T>G (n.*72T>G) n.211T>G n.597T>G c.78T>G (p.Cys26Trp) n.351T>G c.225T>G (p.Cys75Trp) c.309T>G (p.Cys103Trp) c.123T>G (p.Cys41Trp) n.348T>G | |
| 13 | g.113113861G>A | CA388782140 | F7 | c.265G>A (p.Ala89Thr) c.331G>A (p.Ala111Thr) c.*73G>A (n.*73G>A) n.212G>A n.598G>A c.79G>A (p.Ala27Thr) n.352G>A c.226G>A (p.Ala76Thr) c.310G>A (p.Ala104Thr) c.124G>A (p.Ala42Thr) n.349G>A | |
| 13 | g.113113861G>C | CA388782142 | F7 | c.265G>C (p.Ala89Pro) c.331G>C (p.Ala111Pro) c.*73G>C (n.*73G>C) n.212G>C n.598G>C c.79G>C (p.Ala27Pro) n.352G>C c.226G>C (p.Ala76Pro) c.310G>C (p.Ala104Pro) c.124G>C (p.Ala42Pro) n.349G>C | |
| 13 | g.113113861G>T | CA388782143 | F7 | c.265G>T (p.Ala89Ser) c.331G>T (p.Ala111Ser) c.*73G>T (n.*73G>T) n.212G>T n.598G>T c.79G>T (p.Ala27Ser) n.352G>T c.226G>T (p.Ala76Ser) c.310G>T (p.Ala104Ser) c.124G>T (p.Ala42Ser) n.349G>T | |
| 13 | g.113113862C>A | CA388782144 | F7 | c.266C>A (p.Ala89Asp) c.332C>A (p.Ala111Asp) c.*74C>A (n.*74C>A) n.213C>A n.599C>A c.80C>A (p.Ala27Asp) n.353C>A c.227C>A (p.Ala76Asp) c.311C>A (p.Ala104Asp) c.125C>A (p.Ala42Asp) n.350C>A | |
| 13 | g.113113862C= | CA2120135557 | F7 | c.266C= (p.Ala89=) c.332C= (p.Ala111=) c.*74C= (n.*74C=) n.213C= n.599C= c.80C= (p.Ala27=) n.353C= c.227C= (p.Ala76=) c.311C= (p.Ala104=) c.125C= (p.Ala42=) n.350C= | |
| 13 | g.113113862C>G | CA388782145 | F7 | c.266C>G (p.Ala89Gly) c.332C>G (p.Ala111Gly) c.*74C>G (n.*74C>G) n.213C>G n.599C>G c.80C>G (p.Ala27Gly) n.353C>G c.227C>G (p.Ala76Gly) c.311C>G (p.Ala104Gly) c.125C>G (p.Ala42Gly) n.350C>G | |
| 13 | g.113113862C>T | CA388782147 | F7 | c.266C>T (p.Ala89Val) c.332C>T (p.Ala111Val) c.*74C>T (n.*74C>T) n.213C>T n.599C>T c.80C>T (p.Ala27Val) n.353C>T c.227C>T (p.Ala76Val) c.311C>T (p.Ala104Val) c.125C>T (p.Ala42Val) n.350C>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113113863C>A | CA485020353 | F7 | c.267C>A (p.Ala89=) c.333C>A (p.Ala111=) c.*75C>A (n.*75C>A) n.214C>A n.600C>A c.81C>A (p.Ala27=) n.354C>A c.228C>A (p.Ala76=) c.312C>A (p.Ala104=) c.126C>A (p.Ala42=) n.351C>A | |
| 13 | g.113113863C= | CA2120135559 | F7 | c.267C= (p.Ala89=) c.333C= (p.Ala111=) c.*75C= (n.*75C=) n.214C= n.600C= c.81C= (p.Ala27=) n.354C= c.228C= (p.Ala76=) c.312C= (p.Ala104=) c.126C= (p.Ala42=) n.351C= | |
| 13 | g.113113863C>G | CA485020354 | F7 | c.267C>G (p.Ala89=) c.333C>G (p.Ala111=) c.*75C>G (n.*75C>G) n.214C>G n.600C>G c.81C>G (p.Ala27=) n.354C>G c.228C>G (p.Ala76=) c.312C>G (p.Ala104=) c.126C>G (p.Ala42=) n.351C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113113863C>T | CA485020355 | F7 | c.267C>T (p.Ala89=) c.333C>T (p.Ala111=) c.*75C>T (n.*75C>T) n.214C>T n.600C>T c.81C>T (p.Ala27=) n.354C>T c.228C>T (p.Ala76=) c.312C>T (p.Ala104=) c.126C>T (p.Ala42=) n.351C>T | |
| 13 | g.113113864T>A | CA388782152 | F7 | c.268T>A (p.Ser90Thr) c.334T>A (p.Ser112Thr) c.*76T>A (n.*76T>A) n.215T>A n.601T>A c.82T>A (p.Ser28Thr) n.355T>A c.229T>A (p.Ser77Thr) c.313T>A (p.Ser105Thr) c.127T>A (p.Ser43Thr) n.352T>A | |
| 13 | g.113113864T>C | CA388782149 | F7 | c.268T>C (p.Ser90Pro) c.334T>C (p.Ser112Pro) c.*76T>C (n.*76T>C) n.215T>C n.601T>C c.82T>C (p.Ser28Pro) n.355T>C c.229T>C (p.Ser77Pro) c.313T>C (p.Ser105Pro) c.127T>C (p.Ser43Pro) n.352T>C | gnomAD v4 |
| 13 | g.113113864T>G | CA388782151 | F7 | c.268T>G (p.Ser90Ala) c.334T>G (p.Ser112Ala) c.*76T>G (n.*76T>G) n.215T>G n.601T>G c.82T>G (p.Ser28Ala) n.355T>G c.229T>G (p.Ser77Ala) c.313T>G (p.Ser105Ala) c.127T>G (p.Ser43Ala) n.352T>G | |
| 13 | g.113113865C>A | CA388782154 | F7 | c.269C>A (p.Ser90Ter) c.335C>A (p.Ser112Ter) c.*77C>A (n.*77C>A) n.216C>A n.602C>A c.83C>A (p.Ser28Ter) n.356C>A c.230C>A (p.Ser77Ter) c.314C>A (p.Ser105Ter) c.128C>A (p.Ser43Ter) n.353C>A | |
| 13 | g.113113865C>G | CA388782156 | F7 | c.269C>G (p.Ser90Ter) c.335C>G (p.Ser112Ter) c.*77C>G (n.*77C>G) n.216C>G n.602C>G c.83C>G (p.Ser28Ter) n.356C>G c.230C>G (p.Ser77Ter) c.314C>G (p.Ser105Ter) c.128C>G (p.Ser43Ter) n.353C>G | |
| 13 | g.113113865C>T | CA388782158 | F7 | c.269C>T (p.Ser90Leu) c.335C>T (p.Ser112Leu) c.*77C>T (n.*77C>T) n.216C>T n.602C>T c.83C>T (p.Ser28Leu) n.356C>T c.230C>T (p.Ser77Leu) c.314C>T (p.Ser105Leu) c.128C>T (p.Ser43Leu) n.353C>T | |
| 13 | g.113113866A>C | CA485020356 | F7 | c.270A>C (p.Ser90=) c.336A>C (p.Ser112=) c.*78A>C (n.*78A>C) n.217A>C n.603A>C c.84A>C (p.Ser28=) n.357A>C c.231A>C (p.Ser77=) c.315A>C (p.Ser105=) c.129A>C (p.Ser43=) n.354A>C | |
| 13 | g.113113866A>G | CA485020357 | F7 | c.270A>G (p.Ser90=) c.336A>G (p.Ser112=) c.*78A>G (n.*78A>G) n.217A>G n.603A>G c.84A>G (p.Ser28=) n.357A>G c.231A>G (p.Ser77=) c.315A>G (p.Ser105=) c.129A>G (p.Ser43=) n.354A>G | gnomAD v4 |
| 13 | g.113113866A>T | CA485020358 | F7 | c.270A>T (p.Ser90=) c.336A>T (p.Ser112=) c.*78A>T (n.*78A>T) n.217A>T n.603A>T c.84A>T (p.Ser28=) n.357A>T c.231A>T (p.Ser77=) c.315A>T (p.Ser105=) c.129A>T (p.Ser43=) n.354A>T | |
| 13 | g.113113867A>C | CA388782160 | F7 | c.271A>C (p.Ser91Arg) c.337A>C (p.Ser113Arg) c.*79A>C (n.*79A>C) n.218A>C n.604A>C c.85A>C (p.Ser29Arg) n.358A>C c.232A>C (p.Ser78Arg) c.316A>C (p.Ser106Arg) c.130A>C (p.Ser44Arg) n.355A>C | |
| 13 | g.113113867A>G | CA388782161 | F7 | c.271A>G (p.Ser91Gly) c.337A>G (p.Ser113Gly) c.*79A>G (n.*79A>G) n.218A>G n.604A>G c.85A>G (p.Ser29Gly) n.358A>G c.232A>G (p.Ser78Gly) c.316A>G (p.Ser106Gly) c.130A>G (p.Ser44Gly) n.355A>G | |
| 13 | g.113113867A>T | CA388782162 | F7 | c.271A>T (p.Ser91Cys) c.337A>T (p.Ser113Cys) c.*79A>T (n.*79A>T) n.218A>T n.604A>T c.85A>T (p.Ser29Cys) n.358A>T c.232A>T (p.Ser78Cys) c.316A>T (p.Ser106Cys) c.130A>T (p.Ser44Cys) n.355A>T | |
| 13 | g.113113868G>A | CA388782167 | F7 | c.272G>A (p.Ser91Asn) c.338G>A (p.Ser113Asn) c.*80G>A (n.*80G>A) n.219G>A n.605G>A c.86G>A (p.Ser29Asn) n.359G>A c.233G>A (p.Ser78Asn) c.317G>A (p.Ser106Asn) c.131G>A (p.Ser44Asn) n.356G>A | dbSNP |
| 13 | g.113113868G>C | CA388782164 | F7 | c.272G>C (p.Ser91Thr) c.338G>C (p.Ser113Thr) c.*80G>C (n.*80G>C) n.219G>C n.605G>C c.86G>C (p.Ser29Thr) n.359G>C c.233G>C (p.Ser78Thr) c.317G>C (p.Ser106Thr) c.131G>C (p.Ser44Thr) n.356G>C | |
| 13 | g.113113868G>T | CA388782166 | F7 | c.272G>T (p.Ser91Ile) c.338G>T (p.Ser113Ile) c.*80G>T (n.*80G>T) n.219G>T n.605G>T c.86G>T (p.Ser29Ile) n.359G>T c.233G>T (p.Ser78Ile) c.317G>T (p.Ser106Ile) c.131G>T (p.Ser44Ile) n.356G>T | |
| 13 | g.113113869T>A | CA388782169 | F7 | c.273T>A (p.Ser91Arg) c.339T>A (p.Ser113Arg) c.*81T>A (n.*81T>A) n.220T>A n.606T>A c.87T>A (p.Ser29Arg) n.360T>A c.234T>A (p.Ser78Arg) c.318T>A (p.Ser106Arg) c.132T>A (p.Ser44Arg) n.357T>A | |
| 13 | g.113113869T>C | CA485020359 | F7 | c.273T>C (p.Ser91=) c.339T>C (p.Ser113=) c.*81T>C (n.*81T>C) n.220T>C n.606T>C c.87T>C (p.Ser29=) n.360T>C c.234T>C (p.Ser78=) c.318T>C (p.Ser106=) c.132T>C (p.Ser44=) n.357T>C | |
| 13 | g.113113869T>G | CA388782171 | F7 | c.273T>G (p.Ser91Arg) c.339T>G (p.Ser113Arg) c.*81T>G (n.*81T>G) n.220T>G n.606T>G c.87T>G (p.Ser29Arg) n.360T>G c.234T>G (p.Ser78Arg) c.318T>G (p.Ser106Arg) c.132T>G (p.Ser44Arg) n.357T>G | |
| 13 | g.113113870C>A | CA388782173 | F7 | c.274C>A (p.Pro92Thr) c.340C>A (p.Pro114Thr) c.*82C>A (n.*82C>A) n.221C>A n.607C>A c.88C>A (p.Pro30Thr) n.361C>A c.235C>A (p.Pro79Thr) c.319C>A (p.Pro107Thr) c.133C>A (p.Pro45Thr) n.358C>A | |
| 13 | g.113113870C>G | CA388782174 | F7 | c.274C>G (p.Pro92Ala) c.340C>G (p.Pro114Ala) c.*82C>G (n.*82C>G) n.221C>G n.607C>G c.88C>G (p.Pro30Ala) n.361C>G c.235C>G (p.Pro79Ala) c.319C>G (p.Pro107Ala) c.133C>G (p.Pro45Ala) n.358C>G | |
| 13 | g.113113870C>T | CA388782175 | F7 | c.274C>T (p.Pro92Ser) c.340C>T (p.Pro114Ser) c.*82C>T (n.*82C>T) n.221C>T n.607C>T c.88C>T (p.Pro30Ser) n.361C>T c.235C>T (p.Pro79Ser) c.319C>T (p.Pro107Ser) c.133C>T (p.Pro45Ser) n.358C>T | |
| 13 | g.113113871C>A | CA388782180 | F7 | c.275C>A (p.Pro92Gln) c.341C>A (p.Pro114Gln) c.*83C>A (n.*83C>A) n.222C>A n.608C>A c.89C>A (p.Pro30Gln) n.362C>A c.236C>A (p.Pro79Gln) c.320C>A (p.Pro107Gln) c.134C>A (p.Pro45Gln) n.359C>A | |
| 13 | g.113113871C>G | CA388782177 | F7 | c.275C>G (p.Pro92Arg) c.341C>G (p.Pro114Arg) c.*83C>G (n.*83C>G) n.222C>G n.608C>G c.89C>G (p.Pro30Arg) n.362C>G c.236C>G (p.Pro79Arg) c.320C>G (p.Pro107Arg) c.134C>G (p.Pro45Arg) n.359C>G | |
| 13 | g.113113871C>T | CA388782179 | F7 | c.275C>T (p.Pro92Leu) c.341C>T (p.Pro114Leu) c.*83C>T (n.*83C>T) n.222C>T n.608C>T c.89C>T (p.Pro30Leu) n.362C>T c.236C>T (p.Pro79Leu) c.320C>T (p.Pro107Leu) c.134C>T (p.Pro45Leu) n.359C>T | gnomAD v4 |
| 13 | g.113113872A= | CA2120135562 | F7 | c.276A= (p.Pro92=) c.342A= (p.Pro114=) c.*84A= (n.*84A=) n.223A= n.609A= c.90A= (p.Pro30=) n.363A= c.237A= (p.Pro79=) c.321A= (p.Pro107=) c.135A= (p.Pro45=) n.360A= | |
| 13 | g.113113872A>C | CA485020361 | F7 | c.276A>C (p.Pro92=) c.342A>C (p.Pro114=) c.*84A>C (n.*84A>C) n.223A>C n.609A>C c.90A>C (p.Pro30=) n.363A>C c.237A>C (p.Pro79=) c.321A>C (p.Pro107=) c.135A>C (p.Pro45=) n.360A>C | |
| 13 | g.113113872A>G | CA485020360 | F7 | c.276A>G (p.Pro92=) c.342A>G (p.Pro114=) c.*84A>G (n.*84A>G) n.223A>G n.609A>G c.90A>G (p.Pro30=) n.363A>G c.237A>G (p.Pro79=) c.321A>G (p.Pro107=) c.135A>G (p.Pro45=) n.360A>G | |
| 13 | g.113113872A>T | CA7059913 | F7 | c.276A>T (p.Pro92=) c.342A>T (p.Pro114=) c.*84A>T (n.*84A>T) n.223A>T n.609A>T c.90A>T (p.Pro30=) n.363A>T c.237A>T (p.Pro79=) c.321A>T (p.Pro107=) c.135A>T (p.Pro45=) n.360A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113113873T>A | CA388782182 | F7 | c.277T>A (p.Cys93Ser) c.343T>A (p.Cys115Ser) c.*85T>A (n.*85T>A) n.224T>A n.610T>A c.91T>A (p.Cys31Ser) n.364T>A c.238T>A (p.Cys80Ser) c.322T>A (p.Cys108Ser) c.136T>A (p.Cys46Ser) n.361T>A | |
| 13 | g.113113873T>C | CA388782183 | F7 | c.277T>C (p.Cys93Arg) c.343T>C (p.Cys115Arg) c.*85T>C (n.*85T>C) n.224T>C n.610T>C c.91T>C (p.Cys31Arg) n.364T>C c.238T>C (p.Cys80Arg) c.322T>C (p.Cys108Arg) c.136T>C (p.Cys46Arg) n.361T>C | |
| 13 | g.113113873T>G | CA388782184 | F7 | c.277T>G (p.Cys93Gly) c.343T>G (p.Cys115Gly) c.*85T>G (n.*85T>G) n.224T>G n.610T>G c.91T>G (p.Cys31Gly) n.364T>G c.238T>G (p.Cys80Gly) c.322T>G (p.Cys108Gly) c.136T>G (p.Cys46Gly) n.361T>G | |
| 13 | g.113113874G>A | CA388782185 | F7 | c.278G>A (p.Cys93Tyr) c.344G>A (p.Cys115Tyr) c.*86G>A (n.*86G>A) n.225G>A n.611G>A c.92G>A (p.Cys31Tyr) n.365G>A c.239G>A (p.Cys80Tyr) c.323G>A (p.Cys108Tyr) c.137G>A (p.Cys46Tyr) n.362G>A | |
| 13 | g.113113874G>C | CA388782186 | F7 | c.278G>C (p.Cys93Ser) c.344G>C (p.Cys115Ser) c.*86G>C (n.*86G>C) n.225G>C n.611G>C c.92G>C (p.Cys31Ser) n.365G>C c.239G>C (p.Cys80Ser) c.323G>C (p.Cys108Ser) c.137G>C (p.Cys46Ser) n.362G>C | |
| 13 | g.113113874G>T | CA388782187 | F7 | c.278G>T (p.Cys93Phe) c.344G>T (p.Cys115Phe) c.*86G>T (n.*86G>T) n.225G>T n.611G>T c.92G>T (p.Cys31Phe) n.365G>T c.239G>T (p.Cys80Phe) c.323G>T (p.Cys108Phe) c.137G>T (p.Cys46Phe) n.362G>T | |
| 13 | g.113113875C>A | CA388782189 | F7 | c.279C>A (p.Cys93Ter) c.345C>A (p.Cys115Ter) c.*87C>A (n.*87C>A) n.226C>A n.612C>A c.93C>A (p.Cys31Ter) n.366C>A c.240C>A (p.Cys80Ter) c.324C>A (p.Cys108Ter) c.138C>A (p.Cys46Ter) n.363C>A | dbSNP |
| 13 | g.113113875C= | CA2120135567 | F7 | c.279C= (p.Cys93=) c.345C= (p.Cys115=) c.*87C= (n.*87C=) n.226C= n.612C= c.93C= (p.Cys31=) n.366C= c.240C= (p.Cys80=) c.324C= (p.Cys108=) c.138C= (p.Cys46=) n.363C= | |
| 13 | g.113113875C>G | CA388782191 | F7 | c.279C>G (p.Cys93Trp) c.345C>G (p.Cys115Trp) c.*87C>G (n.*87C>G) n.226C>G n.612C>G c.93C>G (p.Cys31Trp) n.366C>G c.240C>G (p.Cys80Trp) c.324C>G (p.Cys108Trp) c.138C>G (p.Cys46Trp) n.363C>G | |
| 13 | g.113113875C>T | CA485020362 | F7 | c.279C>T (p.Cys93=) c.345C>T (p.Cys115=) c.*87C>T (n.*87C>T) n.226C>T n.612C>T c.93C>T (p.Cys31=) n.366C>T c.240C>T (p.Cys80=) c.324C>T (p.Cys108=) c.138C>T (p.Cys46=) n.363C>T | dbSNP |
| 13 | g.113113876C>A | CA388782193 | F7 | c.280C>A (p.Gln94Lys) c.346C>A (p.Gln116Lys) c.*88C>A (n.*88C>A) n.227C>A n.613C>A c.94C>A (p.Gln32Lys) n.367C>A c.241C>A (p.Gln81Lys) c.325C>A (p.Gln109Lys) c.139C>A (p.Gln47Lys) n.364C>A | |
| 13 | g.113113876C>G | CA388782195 | F7 | c.280C>G (p.Gln94Glu) c.346C>G (p.Gln116Glu) c.*88C>G (n.*88C>G) n.227C>G n.613C>G c.94C>G (p.Gln32Glu) n.367C>G c.241C>G (p.Gln81Glu) c.325C>G (p.Gln109Glu) c.139C>G (p.Gln47Glu) n.364C>G | |
| 13 | g.113113876C>T | CA388782196 | F7 | c.280C>T (p.Gln94Ter) c.346C>T (p.Gln116Ter) c.*88C>T (n.*88C>T) n.227C>T n.613C>T c.94C>T (p.Gln32Ter) n.367C>T c.241C>T (p.Gln81Ter) c.325C>T (p.Gln109Ter) c.139C>T (p.Gln47Ter) n.364C>T | |
| 13 | g.113113877A>C | CA388782199 | F7 | c.281A>C (p.Gln94Pro) c.347A>C (p.Gln116Pro) c.*89A>C (n.*89A>C) n.228A>C n.614A>C c.95A>C (p.Gln32Pro) n.368A>C c.242A>C (p.Gln81Pro) c.326A>C (p.Gln109Pro) c.140A>C (p.Gln47Pro) n.365A>C | |
| 13 | g.113113877A>G | CA388782202 | F7 | c.281A>G (p.Gln94Arg) c.347A>G (p.Gln116Arg) c.*89A>G (n.*89A>G) n.228A>G n.614A>G c.95A>G (p.Gln32Arg) n.368A>G c.242A>G (p.Gln81Arg) c.326A>G (p.Gln109Arg) c.140A>G (p.Gln47Arg) n.365A>G | |
| 13 | g.113113877A>T | CA388782200 | F7 | c.281A>T (p.Gln94Leu) c.347A>T (p.Gln116Leu) c.*89A>T (n.*89A>T) n.228A>T n.614A>T c.95A>T (p.Gln32Leu) n.368A>T c.242A>T (p.Gln81Leu) c.326A>T (p.Gln109Leu) c.140A>T (p.Gln47Leu) n.365A>T | |
| 13 | g.113113878G>A | CA485020363 | F7 | c.282G>A (p.Gln94=) c.348G>A (p.Gln116=) c.*90G>A (n.*90G>A) n.229G>A n.615G>A c.96G>A (p.Gln32=) n.369G>A c.243G>A (p.Gln81=) c.327G>A (p.Gln109=) c.141G>A (p.Gln47=) n.366G>A | gnomAD v4 |
| 13 | g.113113878G>C | CA388782203 | F7 | c.282G>C (p.Gln94His) c.348G>C (p.Gln116His) c.*90G>C (n.*90G>C) n.229G>C n.615G>C c.96G>C (p.Gln32His) n.369G>C c.243G>C (p.Gln81His) c.327G>C (p.Gln109His) c.141G>C (p.Gln47His) n.366G>C | |
| 13 | g.113113878G>T | CA388782204 | F7 | c.282G>T (p.Gln94His) c.348G>T (p.Gln116His) c.*90G>T (n.*90G>T) n.229G>T n.615G>T c.96G>T (p.Gln32His) n.369G>T c.243G>T (p.Gln81His) c.327G>T (p.Gln109His) c.141G>T (p.Gln47His) n.366G>T | |
| 13 | g.113113879A= | CA2120135571 | F7 | c.283A= (p.Asn95=) c.349A= (p.Asn117=) c.*91A= (n.*91A=) n.230A= n.616A= c.97A= (p.Asn33=) n.370A= c.244A= (p.Asn82=) c.328A= (p.Asn110=) c.142A= (p.Asn48=) n.367A= | |
| 13 | g.113113879A>C | CA388782207 | F7 | c.283A>C (p.Asn95His) c.349A>C (p.Asn117His) c.*91A>C (n.*91A>C) n.230A>C n.616A>C c.97A>C (p.Asn33His) n.370A>C c.244A>C (p.Asn82His) c.328A>C (p.Asn110His) c.142A>C (p.Asn48His) n.367A>C | |
| 13 | g.113113879A>G | CA256458253 | F7 | c.283A>G (p.Asn95Asp) c.349A>G (p.Asn117Asp) c.*91A>G (n.*91A>G) n.230A>G n.616A>G c.97A>G (p.Asn33Asp) n.370A>G c.244A>G (p.Asn82Asp) c.328A>G (p.Asn110Asp) c.142A>G (p.Asn48Asp) n.367A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113113879A>T | CA388782209 | F7 | c.283A>T (p.Asn95Tyr) c.349A>T (p.Asn117Tyr) c.*91A>T (n.*91A>T) n.230A>T n.616A>T c.97A>T (p.Asn33Tyr) n.370A>T c.244A>T (p.Asn82Tyr) c.328A>T (p.Asn110Tyr) c.142A>T (p.Asn48Tyr) n.367A>T | |
| 13 | g.113113880A>C | CA388782212 | F7 | c.284A>C (p.Asn95Thr) c.350A>C (p.Asn117Thr) c.*92A>C (n.*92A>C) n.231A>C n.617A>C c.98A>C (p.Asn33Thr) n.371A>C c.245A>C (p.Asn82Thr) c.329A>C (p.Asn110Thr) c.143A>C (p.Asn48Thr) n.368A>C | |
| 13 | g.113113880A>G | CA388782213 | F7 | c.284A>G (p.Asn95Ser) c.350A>G (p.Asn117Ser) c.*92A>G (n.*92A>G) n.231A>G n.617A>G c.98A>G (p.Asn33Ser) n.371A>G c.245A>G (p.Asn82Ser) c.329A>G (p.Asn110Ser) c.143A>G (p.Asn48Ser) n.368A>G | gnomAD v4 |
| 13 | g.113113880A>T | CA388782214 | F7 | c.284A>T (p.Asn95Ile) c.350A>T (p.Asn117Ile) c.*92A>T (n.*92A>T) n.231A>T n.617A>T c.98A>T (p.Asn33Ile) n.371A>T c.245A>T (p.Asn82Ile) c.329A>T (p.Asn110Ile) c.143A>T (p.Asn48Ile) n.368A>T | |
| 13 | g.113113881T>A | CA388782216 | F7 | c.285T>A (p.Asn95Lys) c.351T>A (p.Asn117Lys) c.*93T>A (n.*93T>A) n.232T>A n.618T>A c.99T>A (p.Asn33Lys) n.372T>A c.246T>A (p.Asn82Lys) c.330T>A (p.Asn110Lys) c.144T>A (p.Asn48Lys) n.369T>A | |
| 13 | g.113113881T>C | CA485020364 | F7 | c.285T>C (p.Asn95=) c.351T>C (p.Asn117=) c.*93T>C (n.*93T>C) n.232T>C n.618T>C c.99T>C (p.Asn33=) n.372T>C c.246T>C (p.Asn82=) c.330T>C (p.Asn110=) c.144T>C (p.Asn48=) n.369T>C | |
| 13 | g.113113881T>G | CA388782218 | F7 | c.285T>G (p.Asn95Lys) c.351T>G (p.Asn117Lys) c.*93T>G (n.*93T>G) n.232T>G n.618T>G c.99T>G (p.Asn33Lys) n.372T>G c.246T>G (p.Asn82Lys) c.330T>G (p.Asn110Lys) c.144T>G (p.Asn48Lys) n.369T>G | |
| 13 | g.113113882G>A | CA388782220 | F7 | c.286G>A (p.Gly96Arg) c.352G>A (p.Gly118Arg) c.*94G>A (n.*94G>A) n.233G>A n.619G>A c.100G>A (p.Gly34Arg) n.373G>A c.247G>A (p.Gly83Arg) c.331G>A (p.Gly111Arg) c.145G>A (p.Gly49Arg) n.370G>A | dbSNP |
| 13 | g.113113882G>C | CA388782222 | F7 | c.286G>C (p.Gly96Arg) c.352G>C (p.Gly118Arg) c.*94G>C (n.*94G>C) n.233G>C n.619G>C c.100G>C (p.Gly34Arg) n.373G>C c.247G>C (p.Gly83Arg) c.331G>C (p.Gly111Arg) c.145G>C (p.Gly49Arg) n.370G>C | |
| 13 | g.113113882G= | CA2120135577 | F7 | c.286G= (p.Gly96=) c.352G= (p.Gly118=) c.*94G= (n.*94G=) n.233G= n.619G= c.100G= (p.Gly34=) n.373G= c.247G= (p.Gly83=) c.331G= (p.Gly111=) c.145G= (p.Gly49=) n.370G= | |
| 13 | g.113113882G>T | CA388782224 | F7 | c.286G>T (p.Gly96Trp) c.352G>T (p.Gly118Trp) c.*94G>T (n.*94G>T) n.233G>T n.619G>T c.100G>T (p.Gly34Trp) n.373G>T c.247G>T (p.Gly83Trp) c.331G>T (p.Gly111Trp) c.145G>T (p.Gly49Trp) n.370G>T | |
| 13 | g.113113883G>A | CA388782229 | F7 | c.287G>A (p.Gly96Glu) c.353G>A (p.Gly118Glu) c.*95G>A (n.*95G>A) n.234G>A n.620G>A c.101G>A (p.Gly34Glu) n.374G>A c.248G>A (p.Gly83Glu) c.332G>A (p.Gly111Glu) c.146G>A (p.Gly49Glu) n.371G>A | |
| 13 | g.113113883G>C | CA388782227 | F7 | c.287G>C (p.Gly96Ala) c.353G>C (p.Gly118Ala) c.*95G>C (n.*95G>C) n.234G>C n.620G>C c.101G>C (p.Gly34Ala) n.374G>C c.248G>C (p.Gly83Ala) c.332G>C (p.Gly111Ala) c.146G>C (p.Gly49Ala) n.371G>C | |
| 13 | g.113113883G>T | CA388782225 | F7 | c.287G>T (p.Gly96Val) c.353G>T (p.Gly118Val) c.*95G>T (n.*95G>T) n.234G>T n.620G>T c.101G>T (p.Gly34Val) n.374G>T c.248G>T (p.Gly83Val) c.332G>T (p.Gly111Val) c.146G>T (p.Gly49Val) n.371G>T | |
| 13 | g.113113884G>A | CA485020365 | F7 | c.288G>A (p.Gly96=) c.354G>A (p.Gly118=) c.*96G>A (n.*96G>A) n.235G>A n.621G>A c.102G>A (p.Gly34=) n.375G>A c.249G>A (p.Gly83=) c.333G>A (p.Gly111=) c.147G>A (p.Gly49=) n.372G>A | gnomAD v4 |
| 13 | g.113113884G>C | CA485020367 | F7 | c.288G>C (p.Gly96=) c.354G>C (p.Gly118=) c.*96G>C (n.*96G>C) n.235G>C n.621G>C c.102G>C (p.Gly34=) n.375G>C c.249G>C (p.Gly83=) c.333G>C (p.Gly111=) c.147G>C (p.Gly49=) n.372G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113113884G= | CA2120135581 | F7 | c.288G= (p.Gly96=) c.354G= (p.Gly118=) c.*96G= (n.*96G=) n.235G= n.621G= c.102G= (p.Gly34=) n.375G= c.249G= (p.Gly83=) c.333G= (p.Gly111=) c.147G= (p.Gly49=) n.372G= | |
| 13 | g.113113884G>T | CA485020366 | F7 | c.288G>T (p.Gly96=) c.354G>T (p.Gly118=) c.*96G>T (n.*96G>T) n.235G>T n.621G>T c.102G>T (p.Gly34=) n.375G>T c.249G>T (p.Gly83=) c.333G>T (p.Gly111=) c.147G>T (p.Gly49=) n.372G>T | |
| 13 | g.113113885G>A | CA388782231 | F7 | c.289G>A (p.Gly97Ser) c.355G>A (p.Gly119Ser) c.*97G>A (n.*97G>A) n.236G>A n.622G>A c.103G>A (p.Gly35Ser) n.376G>A c.250G>A (p.Gly84Ser) c.334G>A (p.Gly112Ser) c.148G>A (p.Gly50Ser) n.373G>A | gnomAD v4 |
| 13 | g.113113885G>C | CA388782232 | F7 | c.289G>C (p.Gly97Arg) c.355G>C (p.Gly119Arg) c.*97G>C (n.*97G>C) n.236G>C n.622G>C c.103G>C (p.Gly35Arg) n.376G>C c.250G>C (p.Gly84Arg) c.334G>C (p.Gly112Arg) c.148G>C (p.Gly50Arg) n.373G>C | |
| 13 | g.113113885G>T | CA388782235 | F7 | c.289G>T (p.Gly97Cys) c.355G>T (p.Gly119Cys) c.*97G>T (n.*97G>T) n.236G>T n.622G>T c.103G>T (p.Gly35Cys) n.376G>T c.250G>T (p.Gly84Cys) c.334G>T (p.Gly112Cys) c.148G>T (p.Gly50Cys) n.373G>T | |
| 13 | g.113113886G>A | CA388782237 | F7 | c.290G>A (p.Gly97Asp) c.356G>A (p.Gly119Asp) c.*98G>A (n.*98G>A) n.237G>A n.623G>A c.104G>A (p.Gly35Asp) n.377G>A c.251G>A (p.Gly84Asp) c.335G>A (p.Gly112Asp) c.149G>A (p.Gly50Asp) n.374G>A | ClinVar |
| 13 | g.113113886G>C | CA388782239 | F7 | c.290G>C (p.Gly97Ala) c.356G>C (p.Gly119Ala) c.*98G>C (n.*98G>C) n.237G>C n.623G>C c.104G>C (p.Gly35Ala) n.377G>C c.251G>C (p.Gly84Ala) c.335G>C (p.Gly112Ala) c.149G>C (p.Gly50Ala) n.374G>C | gnomAD v4 |
| 13 | g.113113886G>T | CA388782241 | F7 | c.290G>T (p.Gly97Val) c.356G>T (p.Gly119Val) c.*98G>T (n.*98G>T) n.237G>T n.623G>T c.104G>T (p.Gly35Val) n.377G>T c.251G>T (p.Gly84Val) c.335G>T (p.Gly112Val) c.149G>T (p.Gly50Val) n.374G>T | |
| 13 | g.113113887C>A | CA485020372 | F7 | c.291C>A (p.Gly97=) c.357C>A (p.Gly119=) c.*99C>A (n.*99C>A) n.238C>A n.624C>A c.105C>A (p.Gly35=) n.378C>A c.252C>A (p.Gly84=) c.336C>A (p.Gly112=) c.150C>A (p.Gly50=) n.375C>A | dbSNP gnomAD v4 |
| 13 | g.113113887C= | CA2120135586 | F7 | c.291C= (p.Gly97=) c.357C= (p.Gly119=) c.*99C= (n.*99C=) n.238C= n.624C= c.105C= (p.Gly35=) n.378C= c.252C= (p.Gly84=) c.336C= (p.Gly112=) c.150C= (p.Gly50=) n.375C= | |
| 13 | g.113113887C>G | CA485020371 | F7 | c.291C>G (p.Gly97=) c.357C>G (p.Gly119=) c.*99C>G (n.*99C>G) n.238C>G n.624C>G c.105C>G (p.Gly35=) n.378C>G c.252C>G (p.Gly84=) c.336C>G (p.Gly112=) c.150C>G (p.Gly50=) n.375C>G | |
| 13 | g.113113887C>T | CA485020370 | F7 | c.291C>T (p.Gly97=) c.357C>T (p.Gly119=) c.*99C>T (n.*99C>T) n.238C>T n.624C>T c.105C>T (p.Gly35=) n.378C>T c.252C>T (p.Gly84=) c.336C>T (p.Gly112=) c.150C>T (p.Gly50=) n.375C>T | COSMIC |
| 13 | g.113113888T>A | CA388782243 | F7 | c.292T>A (p.Ser98Thr) c.358T>A (p.Ser120Thr) c.*100T>A (n.*100T>A) n.239T>A n.625T>A c.106T>A (p.Ser36Thr) n.379T>A c.253T>A (p.Ser85Thr) c.337T>A (p.Ser113Thr) c.151T>A (p.Ser51Thr) n.376T>A | |
| 13 | g.113113888T>C | CA388782245 | F7 | c.292T>C (p.Ser98Pro) c.358T>C (p.Ser120Pro) c.*100T>C (n.*100T>C) n.239T>C n.625T>C c.106T>C (p.Ser36Pro) n.379T>C c.253T>C (p.Ser85Pro) c.337T>C (p.Ser113Pro) c.151T>C (p.Ser51Pro) n.376T>C | |
| 13 | g.113113888T>G | CA7059914 | F7 | c.292T>G (p.Ser98Ala) c.358T>G (p.Ser120Ala) c.*100T>G (n.*100T>G) n.239T>G n.625T>G c.106T>G (p.Ser36Ala) n.379T>G c.253T>G (p.Ser85Ala) c.337T>G (p.Ser113Ala) c.151T>G (p.Ser51Ala) n.376T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113113888T= | CA2120135592 | F7 | c.292T= (p.Ser98=) c.358T= (p.Ser120=) c.*100T= (n.*100T=) n.239T= n.625T= c.106T= (p.Ser36=) n.379T= c.253T= (p.Ser85=) c.337T= (p.Ser113=) c.151T= (p.Ser51=) n.376T= | |
| 13 | g.113113889C>A | CA388782247 | F7 | c.293C>A (p.Ser98Tyr) c.359C>A (p.Ser120Tyr) c.*101C>A (n.*101C>A) n.240C>A n.626C>A c.107C>A (p.Ser36Tyr) n.380C>A c.254C>A (p.Ser85Tyr) c.338C>A (p.Ser113Tyr) c.152C>A (p.Ser51Tyr) n.377C>A | |
| 13 | g.113113889C= | CA2120135598 | F7 | c.293C= (p.Ser98=) c.359C= (p.Ser120=) c.*101C= (n.*101C=) n.240C= n.626C= c.107C= (p.Ser36=) n.380C= c.254C= (p.Ser85=) c.338C= (p.Ser113=) c.152C= (p.Ser51=) n.377C= | |
| 13 | g.113113889C>G | CA388782250 | F7 | c.293C>G (p.Ser98Cys) c.359C>G (p.Ser120Cys) c.*101C>G (n.*101C>G) n.240C>G n.626C>G c.107C>G (p.Ser36Cys) n.380C>G c.254C>G (p.Ser85Cys) c.338C>G (p.Ser113Cys) c.152C>G (p.Ser51Cys) n.377C>G | |
| 13 | g.113113889C>T | CA388782252 | F7 | c.293C>T (p.Ser98Phe) c.359C>T (p.Ser120Phe) c.*101C>T (n.*101C>T) n.240C>T n.626C>T c.107C>T (p.Ser36Phe) n.380C>T c.254C>T (p.Ser85Phe) c.338C>T (p.Ser113Phe) c.152C>T (p.Ser51Phe) n.377C>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113113890C>A | CA485020375 | F7 | c.294C>A (p.Ser98=) c.360C>A (p.Ser120=) c.*102C>A (n.*102C>A) n.241C>A n.627C>A c.108C>A (p.Ser36=) n.381C>A c.255C>A (p.Ser85=) c.339C>A (p.Ser113=) c.153C>A (p.Ser51=) n.378C>A | |
| 13 | g.113113890C>G | CA485020374 | F7 | c.294C>G (p.Ser98=) c.360C>G (p.Ser120=) c.*102C>G (n.*102C>G) n.241C>G n.627C>G c.108C>G (p.Ser36=) n.381C>G c.255C>G (p.Ser85=) c.339C>G (p.Ser113=) c.153C>G (p.Ser51=) n.378C>G | |
| 13 | g.113113890C>T | CA485020373 | F7 | c.294C>T (p.Ser98=) c.360C>T (p.Ser120=) c.*102C>T (n.*102C>T) n.241C>T n.627C>T c.108C>T (p.Ser36=) n.381C>T c.255C>T (p.Ser85=) c.339C>T (p.Ser113=) c.153C>T (p.Ser51=) n.378C>T | gnomAD v4 |
| 13 | g.113113891T>A | CA388782255 | F7 | c.295T>A (p.Cys99Ser) c.361T>A (p.Cys121Ser) c.*103T>A (n.*103T>A) n.242T>A n.628T>A c.109T>A (p.Cys37Ser) n.382T>A c.256T>A (p.Cys86Ser) c.340T>A (p.Cys114Ser) c.154T>A (p.Cys52Ser) n.379T>A | |
| 13 | g.113113891T>C | CA388782257 | F7 | c.295T>C (p.Cys99Arg) c.361T>C (p.Cys121Arg) c.*103T>C (n.*103T>C) n.242T>C n.628T>C c.109T>C (p.Cys37Arg) n.382T>C c.256T>C (p.Cys86Arg) c.340T>C (p.Cys114Arg) c.154T>C (p.Cys52Arg) n.379T>C | |
| 13 | g.113113891T>G | CA388782253 | F7 | c.295T>G (p.Cys99Gly) c.361T>G (p.Cys121Gly) c.*103T>G (n.*103T>G) n.242T>G n.628T>G c.109T>G (p.Cys37Gly) n.382T>G c.256T>G (p.Cys86Gly) c.340T>G (p.Cys114Gly) c.154T>G (p.Cys52Gly) n.379T>G | |
| 13 | g.113113892G>A | CA388782259 | F7 | c.296G>A (p.Cys99Tyr) c.362G>A (p.Cys121Tyr) c.*104G>A (n.*104G>A) n.243G>A n.629G>A c.110G>A (p.Cys37Tyr) n.383G>A c.257G>A (p.Cys86Tyr) c.341G>A (p.Cys114Tyr) c.155G>A (p.Cys52Tyr) n.380G>A | |
| 13 | g.113113892G>C | CA388782261 | F7 | c.296G>C (p.Cys99Ser) c.362G>C (p.Cys121Ser) c.*104G>C (n.*104G>C) n.243G>C n.629G>C c.110G>C (p.Cys37Ser) n.383G>C c.257G>C (p.Cys86Ser) c.341G>C (p.Cys114Ser) c.155G>C (p.Cys52Ser) n.380G>C | |
| 13 | g.113113892G>T | CA388782262 | F7 | c.296G>T (p.Cys99Phe) c.362G>T (p.Cys121Phe) c.*104G>T (n.*104G>T) n.243G>T n.629G>T c.110G>T (p.Cys37Phe) n.383G>T c.257G>T (p.Cys86Phe) c.341G>T (p.Cys114Phe) c.155G>T (p.Cys52Phe) n.380G>T | |
| 13 | g.113113893C>A | CA256458256 | F7 | c.297C>A (p.Cys99Ter) c.363C>A (p.Cys121Ter) c.*105C>A (n.*105C>A) n.244C>A n.630C>A c.111C>A (p.Cys37Ter) n.384C>A c.258C>A (p.Cys86Ter) c.342C>A (p.Cys114Ter) c.156C>A (p.Cys52Ter) n.381C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113113893C= | CA2120135602 | F7 | c.297C= (p.Cys99=) c.363C= (p.Cys121=) c.*105C= (n.*105C=) n.244C= n.630C= c.111C= (p.Cys37=) n.384C= c.258C= (p.Cys86=) c.342C= (p.Cys114=) c.156C= (p.Cys52=) n.381C= | |
| 13 | g.113113893C>G | CA388782265 | F7 | c.297C>G (p.Cys99Trp) c.363C>G (p.Cys121Trp) c.*105C>G (n.*105C>G) n.244C>G n.630C>G c.111C>G (p.Cys37Trp) n.384C>G c.258C>G (p.Cys86Trp) c.342C>G (p.Cys114Trp) c.156C>G (p.Cys52Trp) n.381C>G | |
| 13 | g.113113893C>T | CA485020376 | F7 | c.297C>T (p.Cys99=) c.363C>T (p.Cys121=) c.*105C>T (n.*105C>T) n.244C>T n.630C>T c.111C>T (p.Cys37=) n.384C>T c.258C>T (p.Cys86=) c.342C>T (p.Cys114=) c.156C>T (p.Cys52=) n.381C>T | |
| 13 | g.113113894A= | CA2120135607 | F7 | c.298A= (p.Lys100=) c.364A= (p.Lys122=) c.*106A= (n.*106A=) n.245A= n.631A= c.112A= (p.Lys38=) n.385A= c.259A= (p.Lys87=) c.343A= (p.Lys115=) c.157A= (p.Lys53=) n.382A= | |
| 13 | g.113113894A>C | CA7059915 | F7 | c.298A>C (p.Lys100Gln) c.364A>C (p.Lys122Gln) c.*106A>C (n.*106A>C) n.245A>C n.631A>C c.112A>C (p.Lys38Gln) n.385A>C c.259A>C (p.Lys87Gln) c.343A>C (p.Lys115Gln) c.157A>C (p.Lys53Gln) n.382A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113113894A>G | CA388782267 | F7 | c.298A>G (p.Lys100Glu) c.364A>G (p.Lys122Glu) c.*106A>G (n.*106A>G) n.245A>G n.631A>G c.112A>G (p.Lys38Glu) n.385A>G c.259A>G (p.Lys87Glu) c.343A>G (p.Lys115Glu) c.157A>G (p.Lys53Glu) n.382A>G | |
| 13 | g.113113894A>T | CA388782269 | F7 | c.298A>T (p.Lys100Ter) c.364A>T (p.Lys122Ter) c.*106A>T (n.*106A>T) n.245A>T n.631A>T c.112A>T (p.Lys38Ter) n.385A>T c.259A>T (p.Lys87Ter) c.343A>T (p.Lys115Ter) c.157A>T (p.Lys53Ter) n.382A>T | |
| 13 | g.113113895A= | CA2120135610 | F7 | c.299A= (p.Lys100=) c.365A= (p.Lys122=) c.*107A= (n.*107A=) n.246A= n.632A= c.113A= (p.Lys38=) n.386A= c.260A= (p.Lys87=) c.344A= (p.Lys115=) c.158A= (p.Lys53=) n.383A= | |
| 13 | g.113113895A>C | CA388782270 | F7 | c.299A>C (p.Lys100Thr) c.365A>C (p.Lys122Thr) c.*107A>C (n.*107A>C) n.246A>C n.632A>C c.113A>C (p.Lys38Thr) n.386A>C c.260A>C (p.Lys87Thr) c.344A>C (p.Lys115Thr) c.158A>C (p.Lys53Thr) n.383A>C | |
| 13 | g.113113895A>G | CA388782273 | F7 | c.299A>G (p.Lys100Arg) c.365A>G (p.Lys122Arg) c.*107A>G (n.*107A>G) n.246A>G n.632A>G c.113A>G (p.Lys38Arg) n.386A>G c.260A>G (p.Lys87Arg) c.344A>G (p.Lys115Arg) c.158A>G (p.Lys53Arg) n.383A>G | dbSNP |
| 13 | g.113113895A>T | CA388782275 | F7 | c.299A>T (p.Lys100Met) c.365A>T (p.Lys122Met) c.*107A>T (n.*107A>T) n.246A>T n.632A>T c.113A>T (p.Lys38Met) n.386A>T c.260A>T (p.Lys87Met) c.344A>T (p.Lys115Met) c.158A>T (p.Lys53Met) n.383A>T | |
| 13 | g.113113896G>A | CA485020377 | F7 | c.300G>A (p.Lys100=) c.366G>A (p.Lys122=) c.*108G>A (n.*108G>A) n.247G>A n.633G>A c.114G>A (p.Lys38=) n.387G>A c.261G>A (p.Lys87=) c.345G>A (p.Lys115=) c.159G>A (p.Lys53=) n.384G>A | |
| 13 | g.113113896G>C | CA388782276 | F7 | c.300G>C (p.Lys100Asn) c.366G>C (p.Lys122Asn) c.*108G>C (n.*108G>C) n.247G>C n.633G>C c.114G>C (p.Lys38Asn) n.387G>C c.261G>C (p.Lys87Asn) c.345G>C (p.Lys115Asn) c.159G>C (p.Lys53Asn) n.384G>C | |
| 13 | g.113113896G>T | CA388782278 | F7 | c.300G>T (p.Lys100Asn) c.366G>T (p.Lys122Asn) c.*108G>T (n.*108G>T) n.247G>T n.633G>T c.114G>T (p.Lys38Asn) n.387G>T c.261G>T (p.Lys87Asn) c.345G>T (p.Lys115Asn) c.159G>T (p.Lys53Asn) n.384G>T | |
| 13 | g.113113897G>A | CA388782285 | F7 | c.301G>A (p.Asp101Asn) c.367G>A (p.Asp123Asn) c.*109G>A (n.*109G>A) n.248G>A n.634G>A c.115G>A (p.Asp39Asn) n.388G>A c.262G>A (p.Asp88Asn) c.346G>A (p.Asp116Asn) c.160G>A (p.Asp54Asn) n.385G>A | |
| 13 | g.113113897G>C | CA388782282 | F7 | c.301G>C (p.Asp101His) c.367G>C (p.Asp123His) c.*109G>C (n.*109G>C) n.248G>C n.634G>C c.115G>C (p.Asp39His) n.388G>C c.262G>C (p.Asp88His) c.346G>C (p.Asp116His) c.160G>C (p.Asp54His) n.385G>C | |
| 13 | g.113113897G>T | CA388782281 | F7 | c.301G>T (p.Asp101Tyr) c.367G>T (p.Asp123Tyr) c.*109G>T (n.*109G>T) n.248G>T n.634G>T c.115G>T (p.Asp39Tyr) n.388G>T c.262G>T (p.Asp88Tyr) c.346G>T (p.Asp116Tyr) c.160G>T (p.Asp54Tyr) n.385G>T | |
| 13 | g.113113898A>C | CA388782286 | F7 | c.302A>C (p.Asp101Ala) c.368A>C (p.Asp123Ala) c.*110A>C (n.*110A>C) n.249A>C n.635A>C c.116A>C (p.Asp39Ala) n.389A>C c.263A>C (p.Asp88Ala) c.347A>C (p.Asp116Ala) c.161A>C (p.Asp54Ala) n.386A>C | |
| 13 | g.113113898A>G | CA388782287 | F7 | c.302A>G (p.Asp101Gly) c.368A>G (p.Asp123Gly) c.*110A>G (n.*110A>G) n.249A>G n.635A>G c.116A>G (p.Asp39Gly) n.389A>G c.263A>G (p.Asp88Gly) c.347A>G (p.Asp116Gly) c.161A>G (p.Asp54Gly) n.386A>G | |
| 13 | g.113113898A>T | CA388782289 | F7 | c.302A>T (p.Asp101Val) c.368A>T (p.Asp123Val) c.*110A>T (n.*110A>T) n.249A>T n.635A>T c.116A>T (p.Asp39Val) n.389A>T c.263A>T (p.Asp88Val) c.347A>T (p.Asp116Val) c.161A>T (p.Asp54Val) n.386A>T | |
| 13 | g.113113899C>A | CA388782291 | F7 | c.303C>A (p.Asp101Glu) c.369C>A (p.Asp123Glu) c.*111C>A (n.*111C>A) n.250C>A n.636C>A c.117C>A (p.Asp39Glu) n.390C>A c.264C>A (p.Asp88Glu) c.348C>A (p.Asp116Glu) c.162C>A (p.Asp54Glu) n.387C>A | |
| 13 | g.113113899C>G | CA388782293 | F7 | c.303C>G (p.Asp101Glu) c.369C>G (p.Asp123Glu) c.*111C>G (n.*111C>G) n.250C>G n.636C>G c.117C>G (p.Asp39Glu) n.390C>G c.264C>G (p.Asp88Glu) c.348C>G (p.Asp116Glu) c.162C>G (p.Asp54Glu) n.387C>G | |
| 13 | g.113113899C>T | CA485020378 | F7 | c.303C>T (p.Asp101=) c.369C>T (p.Asp123=) c.*111C>T (n.*111C>T) n.250C>T n.636C>T c.117C>T (p.Asp39=) n.390C>T c.264C>T (p.Asp88=) c.348C>T (p.Asp116=) c.162C>T (p.Asp54=) n.387C>T | |
| 13 | g.113113900C>A | CA388782295 | F7 | c.304C>A (p.Gln102Lys) c.370C>A (p.Gln124Lys) c.*112C>A (n.*112C>A) n.251C>A n.637C>A c.118C>A (p.Gln40Lys) n.391C>A c.265C>A (p.Gln89Lys) c.349C>A (p.Gln117Lys) c.163C>A (p.Gln55Lys) n.388C>A | |
| 13 | g.113113900C>G | CA388782297 | F7 | c.304C>G (p.Gln102Glu) c.370C>G (p.Gln124Glu) c.*112C>G (n.*112C>G) n.251C>G n.637C>G c.118C>G (p.Gln40Glu) n.391C>G c.265C>G (p.Gln89Glu) c.349C>G (p.Gln117Glu) c.163C>G (p.Gln55Glu) n.388C>G | gnomAD v4 |
| 13 | g.113113900C>T | CA388782298 | F7 | c.304C>T (p.Gln102Ter) c.370C>T (p.Gln124Ter) c.*112C>T (n.*112C>T) n.251C>T n.637C>T c.118C>T (p.Gln40Ter) n.391C>T c.265C>T (p.Gln89Ter) c.349C>T (p.Gln117Ter) c.163C>T (p.Gln55Ter) n.388C>T | |
| 13 | g.113113901A>C | CA388782300 | F7 | c.305A>C (p.Gln102Pro) c.371A>C (p.Gln124Pro) c.*113A>C (n.*113A>C) n.252A>C n.638A>C c.119A>C (p.Gln40Pro) n.392A>C c.266A>C (p.Gln89Pro) c.350A>C (p.Gln117Pro) c.164A>C (p.Gln55Pro) n.389A>C | |
| 13 | g.113113901A>G | CA388782301 | F7 | c.305A>G (p.Gln102Arg) c.371A>G (p.Gln124Arg) c.*113A>G (n.*113A>G) n.252A>G n.638A>G c.119A>G (p.Gln40Arg) n.392A>G c.266A>G (p.Gln89Arg) c.350A>G (p.Gln117Arg) c.164A>G (p.Gln55Arg) n.389A>G | |
| 13 | g.113113901A>T | CA388782303 | F7 | c.305A>T (p.Gln102Leu) c.371A>T (p.Gln124Leu) c.*113A>T (n.*113A>T) n.252A>T n.638A>T c.119A>T (p.Gln40Leu) n.392A>T c.266A>T (p.Gln89Leu) c.350A>T (p.Gln117Leu) c.164A>T (p.Gln55Leu) n.389A>T | |
| 13 | g.113113902G>A | CA485020379 | F7 | c.306G>A (p.Gln102=) c.372G>A (p.Gln124=) c.*114G>A (n.*114G>A) n.253G>A n.639G>A c.120G>A (p.Gln40=) n.393G>A c.267G>A (p.Gln89=) c.351G>A (p.Gln117=) c.165G>A (p.Gln55=) n.390G>A | |
| 13 | g.113113902G>C | CA256458268 | F7 | c.306G>C (p.Gln102His) c.372G>C (p.Gln124His) c.*114G>C (n.*114G>C) n.253G>C n.639G>C c.120G>C (p.Gln40His) n.393G>C c.267G>C (p.Gln89His) c.351G>C (p.Gln117His) c.165G>C (p.Gln55His) n.390G>C | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113113902G= | CA2120135611 | F7 | c.306G= (p.Gln102=) c.372G= (p.Gln124=) c.*114G= (n.*114G=) n.253G= n.639G= c.120G= (p.Gln40=) n.393G= c.267G= (p.Gln89=) c.351G= (p.Gln117=) c.165G= (p.Gln55=) n.390G= | |
| 13 | g.113113902G>T | CA388782305 | F7 | c.306G>T (p.Gln102His) c.372G>T (p.Gln124His) c.*114G>T (n.*114G>T) n.253G>T n.639G>T c.120G>T (p.Gln40His) n.393G>T c.267G>T (p.Gln89His) c.351G>T (p.Gln117His) c.165G>T (p.Gln55His) n.390G>T | |
| 13 | g.113113903C>A | CA388782308 | F7 | c.307C>A (p.Leu103Ile) c.373C>A (p.Leu125Ile) c.*115C>A (n.*115C>A) n.254C>A n.640C>A c.121C>A (p.Leu41Ile) n.394C>A c.268C>A (p.Leu90Ile) c.352C>A (p.Leu118Ile) c.166C>A (p.Leu56Ile) n.391C>A | |
| 13 | g.113113903C>G | CA388782310 | F7 | c.307C>G (p.Leu103Val) c.373C>G (p.Leu125Val) c.*115C>G (n.*115C>G) n.254C>G n.640C>G c.121C>G (p.Leu41Val) n.394C>G c.268C>G (p.Leu90Val) c.352C>G (p.Leu118Val) c.166C>G (p.Leu56Val) n.391C>G | |
| 13 | g.113113903C>T | CA388782307 | F7 | c.307C>T (p.Leu103Phe) c.373C>T (p.Leu125Phe) c.*115C>T (n.*115C>T) n.254C>T n.640C>T c.121C>T (p.Leu41Phe) n.394C>T c.268C>T (p.Leu90Phe) c.352C>T (p.Leu118Phe) c.166C>T (p.Leu56Phe) n.391C>T | |
| 13 | g.113113904T>A | CA388782313 | F7 | c.308T>A (p.Leu103His) c.374T>A (p.Leu125His) c.*116T>A (n.*116T>A) n.255T>A n.641T>A c.122T>A (p.Leu41His) n.395T>A c.269T>A (p.Leu90His) c.353T>A (p.Leu118His) c.167T>A (p.Leu56His) n.392T>A | |
| 13 | g.113113904T>C | CA388782311 | F7 | c.308T>C (p.Leu103Pro) c.374T>C (p.Leu125Pro) c.*116T>C (n.*116T>C) n.255T>C n.641T>C c.122T>C (p.Leu41Pro) n.395T>C c.269T>C (p.Leu90Pro) c.353T>C (p.Leu118Pro) c.167T>C (p.Leu56Pro) n.392T>C | |
| 13 | g.113113904T>G | CA388782314 | F7 | c.308T>G (p.Leu103Arg) c.374T>G (p.Leu125Arg) c.*116T>G (n.*116T>G) n.255T>G n.641T>G c.122T>G (p.Leu41Arg) n.395T>G c.269T>G (p.Leu90Arg) c.353T>G (p.Leu118Arg) c.167T>G (p.Leu56Arg) n.392T>G | |
| 13 | g.113113905C>A | CA485020382 | F7 | c.309C>A (p.Leu103=) c.375C>A (p.Leu125=) c.*117C>A (n.*117C>A) n.256C>A n.642C>A c.123C>A (p.Leu41=) n.396C>A c.270C>A (p.Leu90=) c.354C>A (p.Leu118=) c.168C>A (p.Leu56=) n.393C>A | |
| 13 | g.113113905C>G | CA485020381 | F7 | c.309C>G (p.Leu103=) c.375C>G (p.Leu125=) c.*117C>G (n.*117C>G) n.256C>G n.642C>G c.123C>G (p.Leu41=) n.396C>G c.270C>G (p.Leu90=) c.354C>G (p.Leu118=) c.168C>G (p.Leu56=) n.393C>G | gnomAD v4 |
| 13 | g.113113905C>T | CA485020380 | F7 | c.309C>T (p.Leu103=) c.375C>T (p.Leu125=) c.*117C>T (n.*117C>T) n.256C>T n.642C>T c.123C>T (p.Leu41=) n.396C>T c.270C>T (p.Leu90=) c.354C>T (p.Leu118=) c.168C>T (p.Leu56=) n.393C>T | |
| 13 | g.113113906C>A | CA388782316 | F7 | c.310C>A (p.Gln104Lys) c.376C>A (p.Gln126Lys) c.*118C>A (n.*118C>A) n.257C>A n.643C>A c.124C>A (p.Gln42Lys) n.397C>A c.271C>A (p.Gln91Lys) c.355C>A (p.Gln119Lys) c.169C>A (p.Gln57Lys) n.394C>A | gnomAD v4 |
| 13 | g.113113906C>G | CA388782318 | F7 | c.310C>G (p.Gln104Glu) c.376C>G (p.Gln126Glu) c.*118C>G (n.*118C>G) n.257C>G n.643C>G c.124C>G (p.Gln42Glu) n.397C>G c.271C>G (p.Gln91Glu) c.355C>G (p.Gln119Glu) c.169C>G (p.Gln57Glu) n.394C>G | |
| 13 | g.113113906C>T | CA388782320 | F7 | c.310C>T (p.Gln104Ter) c.376C>T (p.Gln126Ter) c.*118C>T (n.*118C>T) n.257C>T n.643C>T c.124C>T (p.Gln42Ter) n.397C>T c.271C>T (p.Gln91Ter) c.355C>T (p.Gln119Ter) c.169C>T (p.Gln57Ter) n.394C>T | gnomAD v4 |
| 13 | g.113113907A>C | CA388782322 | F7 | c.311A>C (p.Gln104Pro) c.377A>C (p.Gln126Pro) c.*119A>C (n.*119A>C) n.258A>C n.644A>C c.125A>C (p.Gln42Pro) n.398A>C c.272A>C (p.Gln91Pro) c.356A>C (p.Gln119Pro) c.170A>C (p.Gln57Pro) n.395A>C | |
| 13 | g.113113907A>G | CA388782324 | F7 | c.311A>G (p.Gln104Arg) c.377A>G (p.Gln126Arg) c.*119A>G (n.*119A>G) n.258A>G n.644A>G c.125A>G (p.Gln42Arg) n.398A>G c.272A>G (p.Gln91Arg) c.356A>G (p.Gln119Arg) c.170A>G (p.Gln57Arg) n.395A>G | |
| 13 | g.113113907A>T | CA388782325 | F7 | c.311A>T (p.Gln104Leu) c.377A>T (p.Gln126Leu) c.*119A>T (n.*119A>T) n.258A>T n.644A>T c.125A>T (p.Gln42Leu) n.398A>T c.272A>T (p.Gln91Leu) c.356A>T (p.Gln119Leu) c.170A>T (p.Gln57Leu) n.395A>T | |
| 13 | g.113113908G>A | CA485020383 | F7 | c.312G>A (p.Gln104=) c.378G>A (p.Gln126=) c.*120G>A (n.*120G>A) n.259G>A n.645G>A c.126G>A (p.Gln42=) n.399G>A c.273G>A (p.Gln91=) c.357G>A (p.Gln119=) c.171G>A (p.Gln57=) n.396G>A | gnomAD v4 |
| 13 | g.113113908G>C | CA388782327 | F7 | c.312G>C (p.Gln104His) c.378G>C (p.Gln126His) c.*120G>C (n.*120G>C) n.259G>C n.645G>C c.126G>C (p.Gln42His) n.399G>C c.273G>C (p.Gln91His) c.357G>C (p.Gln119His) c.171G>C (p.Gln57His) n.396G>C | |
| 13 | g.113113908G>T | CA388782328 | F7 | c.312G>T (p.Gln104His) c.378G>T (p.Gln126His) c.*120G>T (n.*120G>T) n.259G>T n.645G>T c.126G>T (p.Gln42His) n.399G>T c.273G>T (p.Gln91His) c.357G>T (p.Gln119His) c.171G>T (p.Gln57His) n.396G>T | |
| 13 | g.113113909T>A | CA388782330 | F7 | c.313T>A (p.Ser105Thr) c.379T>A (p.Ser127Thr) c.*121T>A (n.*121T>A) n.260T>A n.646T>A c.127T>A (p.Ser43Thr) n.400T>A c.274T>A (p.Ser92Thr) c.358T>A (p.Ser120Thr) c.172T>A (p.Ser58Thr) n.397T>A | |
| 13 | g.113113909T>C | CA388782333 | F7 | c.313T>C (p.Ser105Pro) c.379T>C (p.Ser127Pro) c.*121T>C (n.*121T>C) n.260T>C n.646T>C c.127T>C (p.Ser43Pro) n.400T>C c.274T>C (p.Ser92Pro) c.358T>C (p.Ser120Pro) c.172T>C (p.Ser58Pro) n.397T>C | |
| 13 | g.113113909T>G | CA388782332 | F7 | c.313T>G (p.Ser105Ala) c.379T>G (p.Ser127Ala) c.*121T>G (n.*121T>G) n.260T>G n.646T>G c.127T>G (p.Ser43Ala) n.400T>G c.274T>G (p.Ser92Ala) c.358T>G (p.Ser120Ala) c.172T>G (p.Ser58Ala) n.397T>G | gnomAD v4 |
| 13 | g.113113910C>A | CA388782335 | F7 | c.314C>A (p.Ser105Tyr) c.380C>A (p.Ser127Tyr) c.*122C>A (n.*122C>A) n.261C>A n.647C>A c.128C>A (p.Ser43Tyr) n.401C>A c.275C>A (p.Ser92Tyr) c.359C>A (p.Ser120Tyr) c.173C>A (p.Ser58Tyr) n.398C>A | |
| 13 | g.113113910C>G | CA388782337 | F7 | c.314C>G (p.Ser105Cys) c.380C>G (p.Ser127Cys) c.*122C>G (n.*122C>G) n.261C>G n.647C>G c.128C>G (p.Ser43Cys) n.401C>G c.275C>G (p.Ser92Cys) c.359C>G (p.Ser120Cys) c.173C>G (p.Ser58Cys) n.398C>G | gnomAD v4 |
| 13 | g.113113910C>T | CA388782339 | F7 | c.314C>T (p.Ser105Phe) c.380C>T (p.Ser127Phe) c.*122C>T (n.*122C>T) n.261C>T n.647C>T c.128C>T (p.Ser43Phe) n.401C>T c.275C>T (p.Ser92Phe) c.359C>T (p.Ser120Phe) c.173C>T (p.Ser58Phe) n.398C>T | gnomAD v4 |
| 13 | g.113113911C>A | CA7059916 | F7 | c.315C>A (p.Ser105=) c.381C>A (p.Ser127=) c.*123C>A (n.*123C>A) n.262C>A n.648C>A c.129C>A (p.Ser43=) n.402C>A c.276C>A (p.Ser92=) c.360C>A (p.Ser120=) c.174C>A (p.Ser58=) n.399C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113113911C= | CA2120135613 | F7 | c.315C= (p.Ser105=) c.381C= (p.Ser127=) c.*123C= (n.*123C=) n.262C= n.648C= c.129C= (p.Ser43=) n.402C= c.276C= (p.Ser92=) c.360C= (p.Ser120=) c.174C= (p.Ser58=) n.399C= | |
| 13 | g.113113911C>G | CA485020384 | F7 | c.315C>G (p.Ser105=) c.381C>G (p.Ser127=) c.*123C>G (n.*123C>G) n.262C>G n.648C>G c.129C>G (p.Ser43=) n.402C>G c.276C>G (p.Ser92=) c.360C>G (p.Ser120=) c.174C>G (p.Ser58=) n.399C>G | gnomAD v4 |
| 13 | g.113113911C>T | CA485020385 | F7 | c.315C>T (p.Ser105=) c.381C>T (p.Ser127=) c.*123C>T (n.*123C>T) n.262C>T n.648C>T c.129C>T (p.Ser43=) n.402C>T c.276C>T (p.Ser92=) c.360C>T (p.Ser120=) c.174C>T (p.Ser58=) n.399C>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113113912T>A | CA388782342 | F7 | c.316T>A (p.Tyr106Asn) c.382T>A (p.Tyr128Asn) c.*124T>A (n.*124T>A) n.263T>A n.649T>A c.130T>A (p.Tyr44Asn) n.403T>A c.277T>A (p.Tyr93Asn) c.361T>A (p.Tyr121Asn) c.175T>A (p.Tyr59Asn) n.400T>A | |
| 13 | g.113113912T>C | CA7059917 | F7 | c.316T>C (p.Tyr106His) c.382T>C (p.Tyr128His) c.*124T>C (n.*124T>C) n.263T>C n.649T>C c.130T>C (p.Tyr44His) n.403T>C c.277T>C (p.Tyr93His) c.361T>C (p.Tyr121His) c.175T>C (p.Tyr59His) n.400T>C | dbSNP ExAC |
| 13 | g.113113912T>G | CA388782344 | F7 | c.316T>G (p.Tyr106Asp) c.382T>G (p.Tyr128Asp) c.*124T>G (n.*124T>G) n.263T>G n.649T>G c.130T>G (p.Tyr44Asp) n.403T>G c.277T>G (p.Tyr93Asp) c.361T>G (p.Tyr121Asp) c.175T>G (p.Tyr59Asp) n.400T>G | |
| 13 | g.113113912T= | CA2120135615 | F7 | c.316T= (p.Tyr106=) c.382T= (p.Tyr128=) c.*124T= (n.*124T=) n.263T= n.649T= c.130T= (p.Tyr44=) n.403T= c.277T= (p.Tyr93=) c.361T= (p.Tyr121=) c.175T= (p.Tyr59=) n.400T= | |
| 13 | g.113113913A>C | CA388782347 | F7 | c.317A>C (p.Tyr106Ser) c.383A>C (p.Tyr128Ser) c.*125A>C (n.*125A>C) n.264A>C n.650A>C c.131A>C (p.Tyr44Ser) n.404A>C c.278A>C (p.Tyr93Ser) c.362A>C (p.Tyr121Ser) c.176A>C (p.Tyr59Ser) n.401A>C | |
| 13 | g.113113913A>G | CA388782348 | F7 | c.317A>G (p.Tyr106Cys) c.383A>G (p.Tyr128Cys) c.*125A>G (n.*125A>G) n.264A>G n.650A>G c.131A>G (p.Tyr44Cys) n.404A>G c.278A>G (p.Tyr93Cys) c.362A>G (p.Tyr121Cys) c.176A>G (p.Tyr59Cys) n.401A>G | gnomAD v4 |
| 13 | g.113113913A>T | CA388782350 | F7 | c.317A>T (p.Tyr106Phe) c.383A>T (p.Tyr128Phe) c.*125A>T (n.*125A>T) n.264A>T n.650A>T c.131A>T (p.Tyr44Phe) n.404A>T c.278A>T (p.Tyr93Phe) c.362A>T (p.Tyr121Phe) c.176A>T (p.Tyr59Phe) n.401A>T | |
| 13 | g.113113914T>A | CA388782352 | F7 | c.318T>A (p.Tyr106Ter) c.384T>A (p.Tyr128Ter) c.*126T>A (n.*126T>A) n.265T>A n.651T>A c.132T>A (p.Tyr44Ter) n.405T>A c.279T>A (p.Tyr93Ter) c.363T>A (p.Tyr121Ter) c.177T>A (p.Tyr59Ter) n.402T>A | |
| 13 | g.113113914T>C | CA7059918 | F7 | c.318T>C (p.Tyr106=) c.384T>C (p.Tyr128=) c.*126T>C (n.*126T>C) n.265T>C n.651T>C c.132T>C (p.Tyr44=) n.405T>C c.279T>C (p.Tyr93=) c.363T>C (p.Tyr121=) c.177T>C (p.Tyr59=) n.402T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113113914T>G | CA388782354 | F7 | c.318T>G (p.Tyr106Ter) c.384T>G (p.Tyr128Ter) c.*126T>G (n.*126T>G) n.265T>G n.651T>G c.132T>G (p.Tyr44Ter) n.405T>G c.279T>G (p.Tyr93Ter) c.363T>G (p.Tyr121Ter) c.177T>G (p.Tyr59Ter) n.402T>G | |
| 13 | g.113113914T= | CA2120135619 | F7 | c.318T= (p.Tyr106=) c.384T= (p.Tyr128=) c.*126T= (n.*126T=) n.265T= n.651T= c.132T= (p.Tyr44=) n.405T= c.279T= (p.Tyr93=) c.363T= (p.Tyr121=) c.177T= (p.Tyr59=) n.402T= | |
| 13 | g.113113915A= | CA2120135626 | F7 | c.319A= (p.Ile107=) c.385A= (p.Ile129=) c.*127A= (n.*127A=) n.266A= n.652A= c.133A= (p.Ile45=) n.406A= c.280A= (p.Ile94=) c.364A= (p.Ile122=) c.178A= (p.Ile60=) n.403A= | |
| 13 | g.113113915A>C | CA388782356 | F7 | c.319A>C (p.Ile107Leu) c.385A>C (p.Ile129Leu) c.*127A>C (n.*127A>C) n.266A>C n.652A>C c.133A>C (p.Ile45Leu) n.406A>C c.280A>C (p.Ile94Leu) c.364A>C (p.Ile122Leu) c.178A>C (p.Ile60Leu) n.403A>C | |
| 13 | g.113113915A>G | CA388782358 | F7 | c.319A>G (p.Ile107Val) c.385A>G (p.Ile129Val) c.*127A>G (n.*127A>G) n.266A>G n.652A>G c.133A>G (p.Ile45Val) n.406A>G c.280A>G (p.Ile94Val) c.364A>G (p.Ile122Val) c.178A>G (p.Ile60Val) n.403A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113113915A>T | CA388782359 | F7 | c.319A>T (p.Ile107Phe) c.385A>T (p.Ile129Phe) c.*127A>T (n.*127A>T) n.266A>T n.652A>T c.133A>T (p.Ile45Phe) n.406A>T c.280A>T (p.Ile94Phe) c.364A>T (p.Ile122Phe) c.178A>T (p.Ile60Phe) n.403A>T | |
| 13 | g.113113916T>A | CA388782362 | F7 | c.320T>A (p.Ile107Asn) c.386T>A (p.Ile129Asn) c.*128T>A (n.*128T>A) n.267T>A n.653T>A c.134T>A (p.Ile45Asn) n.407T>A c.281T>A (p.Ile94Asn) c.365T>A (p.Ile122Asn) c.179T>A (p.Ile60Asn) n.404T>A | |
| 13 | g.113113916T>C | CA388782363 | F7 | c.320T>C (p.Ile107Thr) c.386T>C (p.Ile129Thr) c.*128T>C (n.*128T>C) n.267T>C n.653T>C c.134T>C (p.Ile45Thr) n.407T>C c.281T>C (p.Ile94Thr) c.365T>C (p.Ile122Thr) c.179T>C (p.Ile60Thr) n.404T>C | |
| 13 | g.113113916T>G | CA388782365 | F7 | c.320T>G (p.Ile107Ser) c.386T>G (p.Ile129Ser) c.*128T>G (n.*128T>G) n.267T>G n.653T>G c.134T>G (p.Ile45Ser) n.407T>G c.281T>G (p.Ile94Ser) c.365T>G (p.Ile122Ser) c.179T>G (p.Ile60Ser) n.404T>G | |
| 13 | g.113113917C>A | CA485020387 | F7 | c.321C>A (p.Ile107=) c.387C>A (p.Ile129=) c.*129C>A (n.*129C>A) n.268C>A n.654C>A c.135C>A (p.Ile45=) n.408C>A c.282C>A (p.Ile94=) c.366C>A (p.Ile122=) c.180C>A (p.Ile60=) n.405C>A | |
| 13 | g.113113917C>G | CA388782366 | F7 | c.321C>G (p.Ile107Met) c.387C>G (p.Ile129Met) c.*129C>G (n.*129C>G) n.268C>G n.654C>G c.135C>G (p.Ile45Met) n.408C>G c.282C>G (p.Ile94Met) c.366C>G (p.Ile122Met) c.180C>G (p.Ile60Met) n.405C>G | |
| 13 | g.113113917C>T | CA485020388 | F7 | c.321C>T (p.Ile107=) c.387C>T (p.Ile129=) c.*129C>T (n.*129C>T) n.268C>T n.654C>T c.135C>T (p.Ile45=) n.408C>T c.282C>T (p.Ile94=) c.366C>T (p.Ile122=) c.180C>T (p.Ile60=) n.405C>T | COSMIC COSMIC |
| 13 | g.113113918del | CA2695218962 | F7 | c.322del (p.Cys108AlafsTer20) c.388del (p.Cys130AlafsTer20) c.*130del (n.*130del) n.269del n.655del c.136del (p.Cys46AlafsTer20) n.409del c.322del (p.Cys108AlafsTer25) c.322del (p.Cys108AlafsTer24) c.136del (p.Cys46AlafsTer24) c.283del (p.Cys95AlafsTer24) c.367del (p.Cys123AlafsTer25) c.367del (p.Cys123AlafsTer24) c.181del (p.Cys61AlafsTer24) n.406del | |
| 13 | g.113113918T>A | CA388782372 | F7 | c.322T>A (p.Cys108Ser) c.388T>A (p.Cys130Ser) c.*130T>A (n.*130T>A) n.269T>A n.655T>A c.136T>A (p.Cys46Ser) n.409T>A c.283T>A (p.Cys95Ser) c.367T>A (p.Cys123Ser) c.181T>A (p.Cys61Ser) n.406T>A | |
| 13 | g.113113918T>C | CA388782369 | F7 | c.322T>C (p.Cys108Arg) c.388T>C (p.Cys130Arg) c.*130T>C (n.*130T>C) n.269T>C n.655T>C c.136T>C (p.Cys46Arg) n.409T>C c.283T>C (p.Cys95Arg) c.367T>C (p.Cys123Arg) c.181T>C (p.Cys61Arg) n.406T>C | |
| 13 | g.113113918T>G | CA388782370 | F7 | c.322T>G (p.Cys108Gly) c.388T>G (p.Cys130Gly) c.*130T>G (n.*130T>G) n.269T>G n.655T>G c.136T>G (p.Cys46Gly) n.409T>G c.283T>G (p.Cys95Gly) c.367T>G (p.Cys123Gly) c.181T>G (p.Cys61Gly) n.406T>G | |
| 13 | g.113113919G>A | CA388782374 | F7 | c.323G>A (p.Cys108Tyr) c.389G>A (p.Cys130Tyr) c.*131G>A (n.*131G>A) n.270G>A n.656G>A c.137G>A (p.Cys46Tyr) n.410G>A c.284G>A (p.Cys95Tyr) c.368G>A (p.Cys123Tyr) c.182G>A (p.Cys61Tyr) n.407G>A | |
| 13 | g.113113919G>C | CA388782375 | F7 | c.323G>C (p.Cys108Ser) c.389G>C (p.Cys130Ser) c.*131G>C (n.*131G>C) n.270G>C n.656G>C c.137G>C (p.Cys46Ser) n.410G>C c.284G>C (p.Cys95Ser) c.368G>C (p.Cys123Ser) c.182G>C (p.Cys61Ser) n.407G>C | |
| 13 | g.113113919G>T | CA388782376 | F7 | c.323G>T (p.Cys108Phe) c.389G>T (p.Cys130Phe) c.*131G>T (n.*131G>T) n.270G>T n.656G>T c.137G>T (p.Cys46Phe) n.410G>T c.284G>T (p.Cys95Phe) c.368G>T (p.Cys123Phe) c.182G>T (p.Cys61Phe) n.407G>T | |
| 13 | g.113113920C>A | CA388782377 | F7 | c.324C>A (p.Cys108Ter) c.390C>A (p.Cys130Ter) c.*132C>A (n.*132C>A) n.271C>A n.657C>A c.138C>A (p.Cys46Ter) n.411C>A c.285C>A (p.Cys95Ter) c.369C>A (p.Cys123Ter) c.183C>A (p.Cys61Ter) n.408C>A | |
| 13 | g.113113920C= | CA2120135629 | F7 | c.324C= (p.Cys108=) c.390C= (p.Cys130=) c.*132C= (n.*132C=) n.271C= n.657C= c.138C= (p.Cys46=) n.411C= c.285C= (p.Cys95=) c.369C= (p.Cys123=) c.183C= (p.Cys61=) n.408C= | |
| 13 | g.113113920C>G | CA388782379 | F7 | c.324C>G (p.Cys108Trp) c.390C>G (p.Cys130Trp) c.*132C>G (n.*132C>G) n.271C>G n.657C>G c.138C>G (p.Cys46Trp) n.411C>G c.285C>G (p.Cys95Trp) c.369C>G (p.Cys123Trp) c.183C>G (p.Cys61Trp) n.408C>G | |
| 13 | g.113113920C>T | CA485020390 | F7 | c.324C>T (p.Cys108=) c.390C>T (p.Cys130=) c.*132C>T (n.*132C>T) n.271C>T n.657C>T c.138C>T (p.Cys46=) n.411C>T c.285C>T (p.Cys95=) c.369C>T (p.Cys123=) c.183C>T (p.Cys61=) n.408C>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113113921T>A | CA388782384 | F7 | c.325T>A (p.Phe109Ile) c.391T>A (p.Phe131Ile) c.*133T>A (n.*133T>A) n.272T>A n.658T>A c.139T>A (p.Phe47Ile) n.412T>A c.286T>A (p.Phe96Ile) c.370T>A (p.Phe124Ile) c.184T>A (p.Phe62Ile) n.409T>A | |
| 13 | g.113113921T>C | CA388782381 | F7 | c.325T>C (p.Phe109Leu) c.391T>C (p.Phe131Leu) c.*133T>C (n.*133T>C) n.272T>C n.658T>C c.139T>C (p.Phe47Leu) n.412T>C c.286T>C (p.Phe96Leu) c.370T>C (p.Phe124Leu) c.184T>C (p.Phe62Leu) n.409T>C | |
| 13 | g.113113921T>G | CA388782382 | F7 | c.325T>G (p.Phe109Val) c.391T>G (p.Phe131Val) c.*133T>G (n.*133T>G) n.272T>G n.658T>G c.139T>G (p.Phe47Val) n.412T>G c.286T>G (p.Phe96Val) c.370T>G (p.Phe124Val) c.184T>G (p.Phe62Val) n.409T>G | |
| 13 | g.113113922T>A | CA388782386 | F7 | c.326T>A (p.Phe109Tyr) c.392T>A (p.Phe131Tyr) c.*134T>A (n.*134T>A) n.273T>A n.659T>A c.140T>A (p.Phe47Tyr) n.413T>A c.287T>A (p.Phe96Tyr) c.371T>A (p.Phe124Tyr) c.185T>A (p.Phe62Tyr) n.410T>A | |
| 13 | g.113113922T>C | CA388782388 | F7 | c.326T>C (p.Phe109Ser) c.392T>C (p.Phe131Ser) c.*134T>C (n.*134T>C) n.273T>C n.659T>C c.140T>C (p.Phe47Ser) n.413T>C c.287T>C (p.Phe96Ser) c.371T>C (p.Phe124Ser) c.185T>C (p.Phe62Ser) n.410T>C | |
| 13 | g.113113922T>G | CA388782389 | F7 | c.326T>G (p.Phe109Cys) c.392T>G (p.Phe131Cys) c.*134T>G (n.*134T>G) n.273T>G n.659T>G c.140T>G (p.Phe47Cys) n.413T>G c.287T>G (p.Phe96Cys) c.371T>G (p.Phe124Cys) c.185T>G (p.Phe62Cys) n.410T>G | |
| 13 | g.113113923C>A | CA388782391 | F7 | c.327C>A (p.Phe109Leu) c.393C>A (p.Phe131Leu) c.*135C>A (n.*135C>A) n.274C>A n.660C>A c.141C>A (p.Phe47Leu) n.414C>A c.288C>A (p.Phe96Leu) c.372C>A (p.Phe124Leu) c.186C>A (p.Phe62Leu) n.411C>A | |
| 13 | g.113113923C= | CA2120135634 | F7 | c.327C= (p.Phe109=) c.393C= (p.Phe131=) c.*135C= (n.*135C=) n.274C= n.660C= c.141C= (p.Phe47=) n.414C= c.288C= (p.Phe96=) c.372C= (p.Phe124=) c.186C= (p.Phe62=) n.411C= | |
| 13 | g.113113923C>G | CA388782393 | F7 | c.327C>G (p.Phe109Leu) c.393C>G (p.Phe131Leu) c.*135C>G (n.*135C>G) n.274C>G n.660C>G c.141C>G (p.Phe47Leu) n.414C>G c.288C>G (p.Phe96Leu) c.372C>G (p.Phe124Leu) c.186C>G (p.Phe62Leu) n.411C>G | |
| 13 | g.113113923C>T | CA485020393 | F7 | c.327C>T (p.Phe109=) c.393C>T (p.Phe131=) c.*135C>T (n.*135C>T) n.274C>T n.660C>T c.141C>T (p.Phe47=) n.414C>T c.288C>T (p.Phe96=) c.372C>T (p.Phe124=) c.186C>T (p.Phe62=) n.411C>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113113924T>A | CA388782395 | F7 | c.328T>A (p.Cys110Ser) c.394T>A (p.Cys132Ser) c.*136T>A (n.*136T>A) n.275T>A n.661T>A c.142T>A (p.Cys48Ser) n.415T>A c.289T>A (p.Cys97Ser) c.373T>A (p.Cys125Ser) c.187T>A (p.Cys63Ser) n.412T>A | |
| 13 | g.113113924T>C | CA388782399 | F7 | c.328T>C (p.Cys110Arg) c.394T>C (p.Cys132Arg) c.*136T>C (n.*136T>C) n.275T>C n.661T>C c.142T>C (p.Cys48Arg) n.415T>C c.289T>C (p.Cys97Arg) c.373T>C (p.Cys125Arg) c.187T>C (p.Cys63Arg) n.412T>C | dbSNP |
| 13 | g.113113924T>G | CA388782397 | F7 | c.328T>G (p.Cys110Gly) c.394T>G (p.Cys132Gly) c.*136T>G (n.*136T>G) n.275T>G n.661T>G c.142T>G (p.Cys48Gly) n.415T>G c.289T>G (p.Cys97Gly) c.373T>G (p.Cys125Gly) c.187T>G (p.Cys63Gly) n.412T>G | |
| 13 | g.113113924T= | CA2120135643 | F7 | c.328T= (p.Cys110=) c.394T= (p.Cys132=) c.*136T= (n.*136T=) n.275T= n.661T= c.142T= (p.Cys48=) n.415T= c.289T= (p.Cys97=) c.373T= (p.Cys125=) c.187T= (p.Cys63=) n.412T= | |
| 13 | g.113113925G>A | CA388782400 | F7 | c.329G>A (p.Cys110Tyr) c.395G>A (p.Cys132Tyr) c.*137G>A (n.*137G>A) n.276G>A n.662G>A c.143G>A (p.Cys48Tyr) n.416G>A c.290G>A (p.Cys97Tyr) c.374G>A (p.Cys125Tyr) c.188G>A (p.Cys63Tyr) n.413G>A | gnomAD v4 |
| 13 | g.113113925G>C | CA388782401 | F7 | c.329G>C (p.Cys110Ser) c.395G>C (p.Cys132Ser) c.*137G>C (n.*137G>C) n.276G>C n.662G>C c.143G>C (p.Cys48Ser) n.416G>C c.290G>C (p.Cys97Ser) c.374G>C (p.Cys125Ser) c.188G>C (p.Cys63Ser) n.413G>C | |
| 13 | g.113113925G>T | CA388782403 | F7 | c.329G>T (p.Cys110Phe) c.395G>T (p.Cys132Phe) c.*137G>T (n.*137G>T) n.276G>T n.662G>T c.143G>T (p.Cys48Phe) n.416G>T c.290G>T (p.Cys97Phe) c.374G>T (p.Cys125Phe) c.188G>T (p.Cys63Phe) n.413G>T | |
| 13 | g.113113926C>A | CA388782405 | F7 | c.330C>A (p.Cys110Ter) c.396C>A (p.Cys132Ter) c.*138C>A (n.*138C>A) n.277C>A n.663C>A c.144C>A (p.Cys48Ter) n.417C>A c.291C>A (p.Cys97Ter) c.375C>A (p.Cys125Ter) c.189C>A (p.Cys63Ter) n.414C>A | |
| 13 | g.113113926C>G | CA388782407 | F7 | c.330C>G (p.Cys110Trp) c.396C>G (p.Cys132Trp) c.*138C>G (n.*138C>G) n.277C>G n.663C>G c.144C>G (p.Cys48Trp) n.417C>G c.291C>G (p.Cys97Trp) c.375C>G (p.Cys125Trp) c.189C>G (p.Cys63Trp) n.414C>G | |
| 13 | g.113113926C>T | CA485020394 | F7 | c.330C>T (p.Cys110=) c.396C>T (p.Cys132=) c.*138C>T (n.*138C>T) n.277C>T n.663C>T c.144C>T (p.Cys48=) n.417C>T c.291C>T (p.Cys97=) c.375C>T (p.Cys125=) c.189C>T (p.Cys63=) n.414C>T | |
| 13 | g.113113927C>A | CA388782408 | F7 | c.331C>A (p.Leu111Ile) c.397C>A (p.Leu133Ile) c.*139C>A (n.*139C>A) n.278C>A n.664C>A c.145C>A (p.Leu49Ile) n.418C>A c.292C>A (p.Leu98Ile) c.376C>A (p.Leu126Ile) c.190C>A (p.Leu64Ile) n.415C>A | dbSNP |
| 13 | g.113113927C= | CA2120135649 | F7 | c.331C= (p.Leu111=) c.397C= (p.Leu133=) c.*139C= (n.*139C=) n.278C= n.664C= c.145C= (p.Leu49=) n.418C= c.292C= (p.Leu98=) c.376C= (p.Leu126=) c.190C= (p.Leu64=) n.415C= | |
| 13 | g.113113927C>G | CA388782410 | F7 | c.331C>G (p.Leu111Val) c.397C>G (p.Leu133Val) c.*139C>G (n.*139C>G) n.278C>G n.664C>G c.145C>G (p.Leu49Val) n.418C>G c.292C>G (p.Leu98Val) c.376C>G (p.Leu126Val) c.190C>G (p.Leu64Val) n.415C>G | |
| 13 | g.113113927C>T | CA388782412 | F7 | c.331C>T (p.Leu111Phe) c.397C>T (p.Leu133Phe) c.*139C>T (n.*139C>T) n.278C>T n.664C>T c.145C>T (p.Leu49Phe) n.418C>T c.292C>T (p.Leu98Phe) c.376C>T (p.Leu126Phe) c.190C>T (p.Leu64Phe) n.415C>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113113928del | CA2623803537 | F7 | c.332del (p.Leu111ProfsTer17) c.398del (p.Leu133ProfsTer17) c.*140del (n.*140del) n.279del n.665del c.146del (p.Leu49ProfsTer17) n.419del c.332del (p.Leu111ProfsTer22) c.332del (p.Leu111ProfsTer21) c.146del (p.Leu49ProfsTer21) c.293del (p.Leu98ProfsTer21) c.377del (p.Leu126ProfsTer22) c.377del (p.Leu126ProfsTer21) c.191del (p.Leu64ProfsTer21) n.416del | gnomAD v4 |
| 13 | g.113113928T>A | CA388782414 | F7 | c.332T>A (p.Leu111His) c.398T>A (p.Leu133His) c.*140T>A (n.*140T>A) n.279T>A n.665T>A c.146T>A (p.Leu49His) n.419T>A c.293T>A (p.Leu98His) c.377T>A (p.Leu126His) c.191T>A (p.Leu64His) n.416T>A | |
| 13 | g.113113928T>C | CA388782415 | F7 | c.332T>C (p.Leu111Pro) c.398T>C (p.Leu133Pro) c.*140T>C (n.*140T>C) n.279T>C n.665T>C c.146T>C (p.Leu49Pro) n.419T>C c.293T>C (p.Leu98Pro) c.377T>C (p.Leu126Pro) c.191T>C (p.Leu64Pro) n.416T>C | |
| 13 | g.113113928T>G | CA388782416 | F7 | c.332T>G (p.Leu111Arg) c.398T>G (p.Leu133Arg) c.*140T>G (n.*140T>G) n.279T>G n.665T>G c.146T>G (p.Leu49Arg) n.419T>G c.293T>G (p.Leu98Arg) c.377T>G (p.Leu126Arg) c.191T>G (p.Leu64Arg) n.416T>G | |
| 13 | g.113113929C>A | CA485020395 | F7 | c.333C>A (p.Leu111=) c.399C>A (p.Leu133=) c.*141C>A (n.*141C>A) n.280C>A n.666C>A c.147C>A (p.Leu49=) n.420C>A c.294C>A (p.Leu98=) c.378C>A (p.Leu126=) c.192C>A (p.Leu64=) n.417C>A | |
| 13 | g.113113929C= | CA2120135657 | F7 | c.333C= (p.Leu111=) c.399C= (p.Leu133=) c.*141C= (n.*141C=) n.280C= n.666C= c.147C= (p.Leu49=) n.420C= c.294C= (p.Leu98=) c.378C= (p.Leu126=) c.192C= (p.Leu64=) n.417C= | |
| 13 | g.113113929C>G | CA485020396 | F7 | c.333C>G (p.Leu111=) c.399C>G (p.Leu133=) c.*141C>G (n.*141C>G) n.280C>G n.666C>G c.147C>G (p.Leu49=) n.420C>G c.294C>G (p.Leu98=) c.378C>G (p.Leu126=) c.192C>G (p.Leu64=) n.417C>G | |
| 13 | g.113113929C>T | CA7059919 | F7 | c.333C>T (p.Leu111=) c.399C>T (p.Leu133=) c.*141C>T (n.*141C>T) n.280C>T n.666C>T c.147C>T (p.Leu49=) n.420C>T c.294C>T (p.Leu98=) c.378C>T (p.Leu126=) c.192C>T (p.Leu64=) n.417C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113113930C>A | CA388782420 | F7 | c.334C>A (p.Pro112Thr) c.400C>A (p.Pro134Thr) c.*142C>A (n.*142C>A) n.281C>A n.667C>A c.148C>A (p.Pro50Thr) n.421C>A c.295C>A (p.Pro99Thr) c.379C>A (p.Pro127Thr) c.193C>A (p.Pro65Thr) n.418C>A | |
| 13 | g.113113930C>G | CA388782423 | F7 | c.334C>G (p.Pro112Ala) c.400C>G (p.Pro134Ala) c.*142C>G (n.*142C>G) n.281C>G n.667C>G c.148C>G (p.Pro50Ala) n.421C>G c.295C>G (p.Pro99Ala) c.379C>G (p.Pro127Ala) c.193C>G (p.Pro65Ala) n.418C>G | |
| 13 | g.113113930C>T | CA388782421 | F7 | c.334C>T (p.Pro112Ser) c.400C>T (p.Pro134Ser) c.*142C>T (n.*142C>T) n.281C>T n.667C>T c.148C>T (p.Pro50Ser) n.421C>T c.295C>T (p.Pro99Ser) c.379C>T (p.Pro127Ser) c.193C>T (p.Pro65Ser) n.418C>T | gnomAD v4 COSMIC COSMIC |
| 13 | g.113113931C>A | CA388782425 | F7 | c.335C>A (p.Pro112His) c.401C>A (p.Pro134His) c.*143C>A (n.*143C>A) n.282C>A n.668C>A c.149C>A (p.Pro50His) n.422C>A c.296C>A (p.Pro99His) c.380C>A (p.Pro127His) c.194C>A (p.Pro65His) n.419C>A | |
| 13 | g.113113931C>G | CA388782428 | F7 | c.335C>G (p.Pro112Arg) c.401C>G (p.Pro134Arg) c.*143C>G (n.*143C>G) n.282C>G n.668C>G c.149C>G (p.Pro50Arg) n.422C>G c.296C>G (p.Pro99Arg) c.380C>G (p.Pro127Arg) c.194C>G (p.Pro65Arg) n.419C>G | |
| 13 | g.113113931C>T | CA388782426 | F7 | c.335C>T (p.Pro112Leu) c.401C>T (p.Pro134Leu) c.*143C>T (n.*143C>T) n.282C>T n.668C>T c.149C>T (p.Pro50Leu) n.422C>T c.296C>T (p.Pro99Leu) c.380C>T (p.Pro127Leu) c.194C>T (p.Pro65Leu) n.419C>T | |
| 13 | g.113113932T>A | CA485020397 | F7 | c.336T>A (p.Pro112=) c.402T>A (p.Pro134=) c.*144T>A (n.*144T>A) n.283T>A n.669T>A c.150T>A (p.Pro50=) n.423T>A c.297T>A (p.Pro99=) c.381T>A (p.Pro127=) c.195T>A (p.Pro65=) n.420T>A | |
| 13 | g.113113932T>C | CA485020398 | F7 | c.336T>C (p.Pro112=) c.402T>C (p.Pro134=) c.*144T>C (n.*144T>C) n.283T>C n.669T>C c.150T>C (p.Pro50=) n.423T>C c.297T>C (p.Pro99=) c.381T>C (p.Pro127=) c.195T>C (p.Pro65=) n.420T>C | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113113932T>G | CA485020399 | F7 | c.336T>G (p.Pro112=) c.402T>G (p.Pro134=) c.*144T>G (n.*144T>G) n.283T>G n.669T>G c.150T>G (p.Pro50=) n.423T>G c.297T>G (p.Pro99=) c.381T>G (p.Pro127=) c.195T>G (p.Pro65=) n.420T>G | |
| 13 | g.113113932T= | CA2120135662 | F7 | c.336T= (p.Pro112=) c.402T= (p.Pro134=) c.*144T= (n.*144T=) n.283T= n.669T= c.150T= (p.Pro50=) n.423T= c.297T= (p.Pro99=) c.381T= (p.Pro127=) c.195T= (p.Pro65=) n.420T= | |
| 13 | g.113113933G>A | CA388782430 | F7 | c.337G>A (p.Ala113Thr) c.403G>A (p.Ala135Thr) c.*145G>A (n.*145G>A) n.284G>A n.670G>A c.151G>A (p.Ala51Thr) n.424G>A c.298G>A (p.Ala100Thr) c.382G>A (p.Ala128Thr) c.196G>A (p.Ala66Thr) n.421G>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113113933G>C | CA388782432 | F7 | c.337G>C (p.Ala113Pro) c.403G>C (p.Ala135Pro) c.*145G>C (n.*145G>C) n.284G>C n.670G>C c.151G>C (p.Ala51Pro) n.424G>C c.298G>C (p.Ala100Pro) c.382G>C (p.Ala128Pro) c.196G>C (p.Ala66Pro) n.421G>C | |
| 13 | g.113113933G= | CA2120135665 | F7 | c.337G= (p.Ala113=) c.403G= (p.Ala135=) c.*145G= (n.*145G=) n.284G= n.670G= c.151G= (p.Ala51=) n.424G= c.298G= (p.Ala100=) c.382G= (p.Ala128=) c.196G= (p.Ala66=) n.421G= | |
| 13 | g.113113933G>T | CA388782433 | F7 | c.337G>T (p.Ala113Ser) c.403G>T (p.Ala135Ser) c.*145G>T (n.*145G>T) n.284G>T n.670G>T c.151G>T (p.Ala51Ser) n.424G>T c.298G>T (p.Ala100Ser) c.382G>T (p.Ala128Ser) c.196G>T (p.Ala66Ser) n.421G>T | |
| 13 | g.113113934C>A | CA388782435 | F7 | c.338C>A (p.Ala113Asp) c.404C>A (p.Ala135Asp) c.*146C>A (n.*146C>A) n.285C>A n.671C>A c.152C>A (p.Ala51Asp) n.425C>A c.299C>A (p.Ala100Asp) c.383C>A (p.Ala128Asp) c.197C>A (p.Ala66Asp) n.422C>A | |
| 13 | g.113113934C>G | CA388782437 | F7 | c.338C>G (p.Ala113Gly) c.404C>G (p.Ala135Gly) c.*146C>G (n.*146C>G) n.285C>G n.671C>G c.152C>G (p.Ala51Gly) n.425C>G c.299C>G (p.Ala100Gly) c.383C>G (p.Ala128Gly) c.197C>G (p.Ala66Gly) n.422C>G | |
| 13 | g.113113934C>T | CA388782439 | F7 | c.338C>T (p.Ala113Val) c.404C>T (p.Ala135Val) c.*146C>T (n.*146C>T) n.285C>T n.671C>T c.152C>T (p.Ala51Val) n.425C>T c.299C>T (p.Ala100Val) c.383C>T (p.Ala128Val) c.197C>T (p.Ala66Val) n.422C>T | |
| 13 | g.113113935C>A | CA485020400 | F7 | c.339C>A (p.Ala113=) c.405C>A (p.Ala135=) c.*147C>A (n.*147C>A) n.286C>A n.672C>A c.153C>A (p.Ala51=) n.426C>A c.300C>A (p.Ala100=) c.384C>A (p.Ala128=) c.198C>A (p.Ala66=) n.423C>A | |
| 13 | g.113113935C>G | CA485020401 | F7 | c.339C>G (p.Ala113=) c.405C>G (p.Ala135=) c.*147C>G (n.*147C>G) n.286C>G n.672C>G c.153C>G (p.Ala51=) n.426C>G c.300C>G (p.Ala100=) c.384C>G (p.Ala128=) c.198C>G (p.Ala66=) n.423C>G | |
| 13 | g.113113935C>T | CA485020402 | F7 | c.339C>T (p.Ala113=) c.405C>T (p.Ala135=) c.*147C>T (n.*147C>T) n.286C>T n.672C>T c.153C>T (p.Ala51=) n.426C>T c.300C>T (p.Ala100=) c.384C>T (p.Ala128=) c.198C>T (p.Ala66=) n.423C>T | |
| 13 | g.113113936T>A | CA388782441 | F7 | c.340T>A (p.Phe114Ile) c.406T>A (p.Phe136Ile) c.*148T>A (n.*148T>A) n.287T>A n.673T>A c.154T>A (p.Phe52Ile) n.427T>A c.301T>A (p.Phe101Ile) c.385T>A (p.Phe129Ile) c.199T>A (p.Phe67Ile) n.424T>A | |
| 13 | g.113113936T>C | CA388782443 | F7 | c.340T>C (p.Phe114Leu) c.406T>C (p.Phe136Leu) c.*148T>C (n.*148T>C) n.287T>C n.673T>C c.154T>C (p.Phe52Leu) n.427T>C c.301T>C (p.Phe101Leu) c.385T>C (p.Phe129Leu) c.199T>C (p.Phe67Leu) n.424T>C | |
| 13 | g.113113936T>G | CA388782444 | F7 | c.340T>G (p.Phe114Val) c.406T>G (p.Phe136Val) c.*148T>G (n.*148T>G) n.287T>G n.673T>G c.154T>G (p.Phe52Val) n.427T>G c.301T>G (p.Phe101Val) c.385T>G (p.Phe129Val) c.199T>G (p.Phe67Val) n.424T>G | gnomAD v4 |
| 13 | g.113113937T>A | CA388782446 | F7 | c.341T>A (p.Phe114Tyr) c.407T>A (p.Phe136Tyr) c.*149T>A (n.*149T>A) n.288T>A n.674T>A c.155T>A (p.Phe52Tyr) n.428T>A c.302T>A (p.Phe101Tyr) c.386T>A (p.Phe129Tyr) c.200T>A (p.Phe67Tyr) n.425T>A | |
| 13 | g.113113937T>C | CA388782447 | F7 | c.341T>C (p.Phe114Ser) c.407T>C (p.Phe136Ser) c.*149T>C (n.*149T>C) n.288T>C n.674T>C c.155T>C (p.Phe52Ser) n.428T>C c.302T>C (p.Phe101Ser) c.386T>C (p.Phe129Ser) c.200T>C (p.Phe67Ser) n.425T>C | |
| 13 | g.113113937T>G | CA388782449 | F7 | c.341T>G (p.Phe114Cys) c.407T>G (p.Phe136Cys) c.*149T>G (n.*149T>G) n.288T>G n.674T>G c.155T>G (p.Phe52Cys) n.428T>G c.302T>G (p.Phe101Cys) c.386T>G (p.Phe129Cys) c.200T>G (p.Phe67Cys) n.425T>G | |
| 13 | g.113113938C>A | CA388782451 | F7 | c.342C>A (p.Phe114Leu) c.408C>A (p.Phe136Leu) c.*150C>A (n.*150C>A) n.289C>A n.675C>A c.156C>A (p.Phe52Leu) n.429C>A c.303C>A (p.Phe101Leu) c.387C>A (p.Phe129Leu) c.201C>A (p.Phe67Leu) n.426C>A | |
| 13 | g.113113938C= | CA2120135670 | F7 | c.342C= (p.Phe114=) c.408C= (p.Phe136=) c.*150C= (n.*150C=) n.289C= n.675C= c.156C= (p.Phe52=) n.429C= c.303C= (p.Phe101=) c.387C= (p.Phe129=) c.201C= (p.Phe67=) n.426C= | |
| 13 | g.113113938C>G | CA388782453 | F7 | c.342C>G (p.Phe114Leu) c.408C>G (p.Phe136Leu) c.*150C>G (n.*150C>G) n.289C>G n.675C>G c.156C>G (p.Phe52Leu) n.429C>G c.303C>G (p.Phe101Leu) c.387C>G (p.Phe129Leu) c.201C>G (p.Phe67Leu) n.426C>G | |
| 13 | g.113113938C>T | CA485020403 | F7 | c.342C>T (p.Phe114=) c.408C>T (p.Phe136=) c.*150C>T (n.*150C>T) n.289C>T n.675C>T c.156C>T (p.Phe52=) n.429C>T c.303C>T (p.Phe101=) c.387C>T (p.Phe129=) c.201C>T (p.Phe67=) n.426C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.113113939G>A | CA7059920 | F7 | c.343G>A (p.Glu115Lys) c.409G>A (p.Glu137Lys) c.*151G>A (n.*151G>A) n.290G>A n.676G>A c.157G>A (p.Glu53Lys) n.430G>A c.304G>A (p.Glu102Lys) c.388G>A (p.Glu130Lys) c.202G>A (p.Glu68Lys) n.427G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113113939G>C | CA388782456 | F7 | c.343G>C (p.Glu115Gln) c.409G>C (p.Glu137Gln) c.*151G>C (n.*151G>C) n.290G>C n.676G>C c.157G>C (p.Glu53Gln) n.430G>C c.304G>C (p.Glu102Gln) c.388G>C (p.Glu130Gln) c.202G>C (p.Glu68Gln) n.427G>C | |
| 13 | g.113113939G= | CA2120135675 | F7 | c.343G= (p.Glu115=) c.409G= (p.Glu137=) c.*151G= (n.*151G=) n.290G= n.676G= c.157G= (p.Glu53=) n.430G= c.304G= (p.Glu102=) c.388G= (p.Glu130=) c.202G= (p.Glu68=) n.427G= | |
| 13 | g.113113939G>T | CA388782458 | F7 | c.343G>T (p.Glu115Ter) c.409G>T (p.Glu137Ter) c.*151G>T (n.*151G>T) n.290G>T n.676G>T c.157G>T (p.Glu53Ter) n.430G>T c.304G>T (p.Glu102Ter) c.388G>T (p.Glu130Ter) c.202G>T (p.Glu68Ter) n.427G>T | |
| 13 | g.113113940A>C | CA388782462 | F7 | c.344A>C (p.Glu115Ala) c.410A>C (p.Glu137Ala) c.*152A>C (n.*152A>C) n.291A>C n.677A>C c.158A>C (p.Glu53Ala) n.431A>C c.305A>C (p.Glu102Ala) c.389A>C (p.Glu130Ala) c.203A>C (p.Glu68Ala) n.428A>C | |
| 13 | g.113113940A>G | CA388782463 | F7 | c.344A>G (p.Glu115Gly) c.410A>G (p.Glu137Gly) c.*152A>G (n.*152A>G) n.291A>G n.677A>G c.158A>G (p.Glu53Gly) n.431A>G c.305A>G (p.Glu102Gly) c.389A>G (p.Glu130Gly) c.203A>G (p.Glu68Gly) n.428A>G | |
| 13 | g.113113940A>T | CA388782465 | F7 | c.344A>T (p.Glu115Val) c.410A>T (p.Glu137Val) c.*152A>T (n.*152A>T) n.291A>T n.677A>T c.158A>T (p.Glu53Val) n.431A>T c.305A>T (p.Glu102Val) c.389A>T (p.Glu130Val) c.203A>T (p.Glu68Val) n.428A>T | |
| 13 | g.113113941G>A | CA485020405 | F7 | c.345G>A (p.Glu115=) c.411G>A (p.Glu137=) c.*153G>A (n.*153G>A) n.292G>A n.678G>A c.159G>A (p.Glu53=) n.432G>A c.306G>A (p.Glu102=) c.390G>A (p.Glu130=) c.204G>A (p.Glu68=) n.429G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113113941G>C | CA388782468 | F7 | c.345G>C (p.Glu115Asp) c.411G>C (p.Glu137Asp) c.*153G>C (n.*153G>C) n.292G>C n.678G>C c.159G>C (p.Glu53Asp) n.432G>C c.306G>C (p.Glu102Asp) c.390G>C (p.Glu130Asp) c.204G>C (p.Glu68Asp) n.429G>C | gnomAD v4 |
| 13 | g.113113941G= | CA2120135678 | F7 | c.345G= (p.Glu115=) c.411G= (p.Glu137=) c.*153G= (n.*153G=) n.292G= n.678G= c.159G= (p.Glu53=) n.432G= c.306G= (p.Glu102=) c.390G= (p.Glu130=) c.204G= (p.Glu68=) n.429G= | |
| 13 | g.113113941G>T | CA388782470 | F7 | c.345G>T (p.Glu115Asp) c.411G>T (p.Glu137Asp) c.*153G>T (n.*153G>T) n.292G>T n.678G>T c.159G>T (p.Glu53Asp) n.432G>T c.306G>T (p.Glu102Asp) c.390G>T (p.Glu130Asp) c.204G>T (p.Glu68Asp) n.429G>T | |
| 13 | g.113113942G>A | CA388782473 | F7 | c.346G>A (p.Gly116Ser) c.412G>A (p.Gly138Ser) c.*154G>A (n.*154G>A) n.293G>A n.679G>A c.160G>A (p.Gly54Ser) n.433G>A c.307G>A (p.Gly103Ser) c.391G>A (p.Gly131Ser) c.205G>A (p.Gly69Ser) n.430G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113113942G>C | CA388782474 | F7 | c.346G>C (p.Gly116Arg) c.412G>C (p.Gly138Arg) c.*154G>C (n.*154G>C) n.293G>C n.679G>C c.160G>C (p.Gly54Arg) n.433G>C c.307G>C (p.Gly103Arg) c.391G>C (p.Gly131Arg) c.205G>C (p.Gly69Arg) n.430G>C | |
| 13 | g.113113942G= | CA2120135682 | F7 | c.346G= (p.Gly116=) c.412G= (p.Gly138=) c.*154G= (n.*154G=) n.293G= n.679G= c.160G= (p.Gly54=) n.433G= c.307G= (p.Gly103=) c.391G= (p.Gly131=) c.205G= (p.Gly69=) n.430G= | |
| 13 | g.113113942G>T | CA388782477 | F7 | c.346G>T (p.Gly116Cys) c.412G>T (p.Gly138Cys) c.*154G>T (n.*154G>T) n.293G>T n.679G>T c.160G>T (p.Gly54Cys) n.433G>T c.307G>T (p.Gly103Cys) c.391G>T (p.Gly131Cys) c.205G>T (p.Gly69Cys) n.430G>T | |
| 13 | g.113113943G>A | CA388782481 | F7 | c.347G>A (p.Gly116Asp) c.413G>A (p.Gly138Asp) c.*155G>A (n.*155G>A) n.294G>A n.680G>A c.161G>A (p.Gly54Asp) n.434G>A c.308G>A (p.Gly103Asp) c.392G>A (p.Gly131Asp) c.206G>A (p.Gly69Asp) n.431G>A | gnomAD v4 |
| 13 | g.113113943G>C | CA388782483 | F7 | c.347G>C (p.Gly116Ala) c.413G>C (p.Gly138Ala) c.*155G>C (n.*155G>C) n.294G>C n.680G>C c.161G>C (p.Gly54Ala) n.434G>C c.308G>C (p.Gly103Ala) c.392G>C (p.Gly131Ala) c.206G>C (p.Gly69Ala) n.431G>C | |
| 13 | g.113113943G>T | CA388782480 | F7 | c.347G>T (p.Gly116Val) c.413G>T (p.Gly138Val) c.*155G>T (n.*155G>T) n.294G>T n.680G>T c.161G>T (p.Gly54Val) n.434G>T c.308G>T (p.Gly103Val) c.392G>T (p.Gly131Val) c.206G>T (p.Gly69Val) n.431G>T | |
| 13 | g.113113944C>A | CA485020408 | F7 | c.348C>A (p.Gly116=) c.414C>A (p.Gly138=) c.*156C>A (n.*156C>A) n.295C>A n.681C>A c.162C>A (p.Gly54=) n.435C>A c.309C>A (p.Gly103=) c.393C>A (p.Gly131=) c.207C>A (p.Gly69=) n.432C>A | |
| 13 | g.113113944C= | CA2120135692 | F7 | c.348C= (p.Gly116=) c.414C= (p.Gly138=) c.*156C= (n.*156C=) n.295C= n.681C= c.162C= (p.Gly54=) n.435C= c.309C= (p.Gly103=) c.393C= (p.Gly131=) c.207C= (p.Gly69=) n.432C= | |
| 13 | g.113113944C>G | CA485020407 | F7 | c.348C>G (p.Gly116=) c.414C>G (p.Gly138=) c.*156C>G (n.*156C>G) n.295C>G n.681C>G c.162C>G (p.Gly54=) n.435C>G c.309C>G (p.Gly103=) c.393C>G (p.Gly131=) c.207C>G (p.Gly69=) n.432C>G | |
| 13 | g.113113944C>T | CA485020406 | F7 | c.348C>T (p.Gly116=) c.414C>T (p.Gly138=) c.*156C>T (n.*156C>T) n.295C>T n.681C>T c.162C>T (p.Gly54=) n.435C>T c.309C>T (p.Gly103=) c.393C>T (p.Gly131=) c.207C>T (p.Gly69=) n.432C>T | dbSNP COSMIC |
| 13 | g.113113945C>A | CA485020409 | F7 | c.349C>A (p.Arg117=) c.415C>A (p.Arg139=) c.*157C>A (n.*157C>A) n.296C>A n.682C>A c.163C>A (p.Arg55=) n.436C>A c.310C>A (p.Arg104=) c.394C>A (p.Arg132=) c.208C>A (p.Arg70=) n.433C>A | |
| 13 | g.113113945C= | CA2120135696 | F7 | c.349C= (p.Arg117=) c.415C= (p.Arg139=) c.*157C= (n.*157C=) n.296C= n.682C= c.163C= (p.Arg55=) n.436C= c.310C= (p.Arg104=) c.394C= (p.Arg132=) c.208C= (p.Arg70=) n.433C= | |
| 13 | g.113113945C>G | CA388782486 | F7 | c.349C>G (p.Arg117Gly) c.415C>G (p.Arg139Gly) c.*157C>G (n.*157C>G) n.296C>G n.682C>G c.163C>G (p.Arg55Gly) n.436C>G c.310C>G (p.Arg104Gly) c.394C>G (p.Arg132Gly) c.208C>G (p.Arg70Gly) n.433C>G | |
| 13 | g.113113945C>T | CA7059921 | F7 | c.349C>T (p.Arg117Trp) c.415C>T (p.Arg139Trp) c.*157C>T (n.*157C>T) n.296C>T n.682C>T c.163C>T (p.Arg55Trp) n.436C>T c.310C>T (p.Arg104Trp) c.394C>T (p.Arg132Trp) c.208C>T (p.Arg70Trp) n.433C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113113946G>A | CA7059922 | F7 | c.350G>A (p.Arg117Gln) c.416G>A (p.Arg139Gln) c.*158G>A (n.*158G>A) n.297G>A n.683G>A c.164G>A (p.Arg55Gln) n.437G>A c.311G>A (p.Arg104Gln) c.395G>A (p.Arg132Gln) c.209G>A (p.Arg70Gln) n.434G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113113946G>C | CA388782491 | F7 | c.350G>C (p.Arg117Pro) c.416G>C (p.Arg139Pro) c.*158G>C (n.*158G>C) n.297G>C n.683G>C c.164G>C (p.Arg55Pro) n.437G>C c.311G>C (p.Arg104Pro) c.395G>C (p.Arg132Pro) c.209G>C (p.Arg70Pro) n.434G>C | |
| 13 | g.113113946G= | CA2120135699 | F7 | c.350G= (p.Arg117=) c.416G= (p.Arg139=) c.*158G= (n.*158G=) n.297G= n.683G= c.164G= (p.Arg55=) n.437G= c.311G= (p.Arg104=) c.395G= (p.Arg132=) c.209G= (p.Arg70=) n.434G= | |
| 13 | g.113113946G>T | CA388782493 | F7 | c.350G>T (p.Arg117Leu) c.416G>T (p.Arg139Leu) c.*158G>T (n.*158G>T) n.297G>T n.683G>T c.164G>T (p.Arg55Leu) n.437G>T c.311G>T (p.Arg104Leu) c.395G>T (p.Arg132Leu) c.209G>T (p.Arg70Leu) n.434G>T | |
| 13 | g.113113947G>A | CA485020412 | F7 | c.351G>A (p.Arg117=) c.417G>A (p.Arg139=) c.*159G>A (n.*159G>A) n.298G>A n.684G>A c.165G>A (p.Arg55=) n.438G>A c.312G>A (p.Arg104=) c.396G>A (p.Arg132=) c.210G>A (p.Arg70=) n.435G>A | |
| 13 | g.113113947G>C | CA485020413 | F7 | c.351G>C (p.Arg117=) c.417G>C (p.Arg139=) c.*159G>C (n.*159G>C) n.298G>C n.684G>C c.165G>C (p.Arg55=) n.438G>C c.312G>C (p.Arg104=) c.396G>C (p.Arg132=) c.210G>C (p.Arg70=) n.435G>C | |
| 13 | g.113113947G>T | CA485020414 | F7 | c.351G>T (p.Arg117=) c.417G>T (p.Arg139=) c.*159G>T (n.*159G>T) n.298G>T n.684G>T c.165G>T (p.Arg55=) n.438G>T c.312G>T (p.Arg104=) c.396G>T (p.Arg132=) c.210G>T (p.Arg70=) n.435G>T | |
| 13 | g.113113948A>C | CA388782497 | F7 | c.352A>C (p.Asn118His) c.418A>C (p.Asn140His) c.*160A>C (n.*160A>C) n.299A>C n.685A>C c.166A>C (p.Asn56His) n.439A>C c.313A>C (p.Asn105His) c.397A>C (p.Asn133His) c.211A>C (p.Asn71His) n.436A>C | |
| 13 | g.113113948A>G | CA388782499 | F7 | c.352A>G (p.Asn118Asp) c.418A>G (p.Asn140Asp) c.*160A>G (n.*160A>G) n.299A>G n.685A>G c.166A>G (p.Asn56Asp) n.439A>G c.313A>G (p.Asn105Asp) c.397A>G (p.Asn133Asp) c.211A>G (p.Asn71Asp) n.436A>G | |
| 13 | g.113113948A>T | CA388782501 | F7 | c.352A>T (p.Asn118Tyr) c.418A>T (p.Asn140Tyr) c.*160A>T (n.*160A>T) n.299A>T n.685A>T c.166A>T (p.Asn56Tyr) n.439A>T c.313A>T (p.Asn105Tyr) c.397A>T (p.Asn133Tyr) c.211A>T (p.Asn71Tyr) n.436A>T | |
| 13 | g.113113949A>C | CA388782503 | F7 | c.353A>C (p.Asn118Thr) c.419A>C (p.Asn140Thr) c.*161A>C (n.*161A>C) n.300A>C n.686A>C c.167A>C (p.Asn56Thr) n.440A>C c.314A>C (p.Asn105Thr) c.398A>C (p.Asn133Thr) c.212A>C (p.Asn71Thr) n.437A>C | |
| 13 | g.113113949A>G | CA388782504 | F7 | c.353A>G (p.Asn118Ser) c.419A>G (p.Asn140Ser) c.*161A>G (n.*161A>G) n.300A>G n.686A>G c.167A>G (p.Asn56Ser) n.440A>G c.314A>G (p.Asn105Ser) c.398A>G (p.Asn133Ser) c.212A>G (p.Asn71Ser) n.437A>G | |
| 13 | g.113113949A>T | CA388782506 | F7 | c.353A>T (p.Asn118Ile) c.419A>T (p.Asn140Ile) c.*161A>T (n.*161A>T) n.300A>T n.686A>T c.167A>T (p.Asn56Ile) n.440A>T c.314A>T (p.Asn105Ile) c.398A>T (p.Asn133Ile) c.212A>T (p.Asn71Ile) n.437A>T | |
| 13 | g.113113950C>A | CA7059923 | F7 | c.354C>A (p.Asn118Lys) c.420C>A (p.Asn140Lys) c.*162C>A (n.*162C>A) n.301C>A n.687C>A c.168C>A (p.Asn56Lys) n.441C>A c.315C>A (p.Asn105Lys) c.399C>A (p.Asn133Lys) c.213C>A (p.Asn71Lys) n.438C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.113113950C= | CA2120135705 | F7 | c.354C= (p.Asn118=) c.420C= (p.Asn140=) c.*162C= (n.*162C=) n.301C= n.687C= c.168C= (p.Asn56=) n.441C= c.315C= (p.Asn105=) c.399C= (p.Asn133=) c.213C= (p.Asn71=) n.438C= | |
| 13 | g.113113950C>G | CA388782508 | F7 | c.354C>G (p.Asn118Lys) c.420C>G (p.Asn140Lys) c.*162C>G (n.*162C>G) n.301C>G n.687C>G c.168C>G (p.Asn56Lys) n.441C>G c.315C>G (p.Asn105Lys) c.399C>G (p.Asn133Lys) c.213C>G (p.Asn71Lys) n.438C>G | gnomAD v4 |
| 13 | g.113113950C>T | CA485020418 | F7 | c.354C>T (p.Asn118=) c.420C>T (p.Asn140=) c.*162C>T (n.*162C>T) n.301C>T n.687C>T c.168C>T (p.Asn56=) n.441C>T c.315C>T (p.Asn105=) c.399C>T (p.Asn133=) c.213C>T (p.Asn71=) n.438C>T | |
| 13 | g.113113951T>A | CA388782516 | F7 | c.355T>A (p.Cys119Ser) c.421T>A (p.Cys141Ser) c.*163T>A (n.*163T>A) n.302T>A n.688T>A c.169T>A (p.Cys57Ser) n.442T>A c.316T>A (p.Cys106Ser) c.400T>A (p.Cys134Ser) c.214T>A (p.Cys72Ser) n.439T>A | |
| 13 | g.113113951T>C | CA388782513 | F7 | c.355T>C (p.Cys119Arg) c.421T>C (p.Cys141Arg) c.*163T>C (n.*163T>C) n.302T>C n.688T>C c.169T>C (p.Cys57Arg) n.442T>C c.316T>C (p.Cys106Arg) c.400T>C (p.Cys134Arg) c.214T>C (p.Cys72Arg) n.439T>C | |
| 13 | g.113113951T>G | CA388782510 | F7 | c.355T>G (p.Cys119Gly) c.421T>G (p.Cys141Gly) c.*163T>G (n.*163T>G) n.302T>G n.688T>G c.169T>G (p.Cys57Gly) n.442T>G c.316T>G (p.Cys106Gly) c.400T>G (p.Cys134Gly) c.214T>G (p.Cys72Gly) n.439T>G |