Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.99862311_99862336del | CA16040824 | AGL | c.348_373del (p.Ala117LeufsTer10) n.559_584del c.300_325del (p.Ala101LeufsTer10) c.297_322del (p.Ala100LeufsTer10) | ClinVar dbSNP |
1 | g.99862336G>A | CA966150 | AGL | c.373G>A (p.Asp125Asn) n.584G>A c.325G>A (p.Asp109Asn) c.322G>A (p.Asp108Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862336G>C | CA341331601 | AGL | c.373G>C (p.Asp125His) n.584G>C c.325G>C (p.Asp109His) c.322G>C (p.Asp108His) | |
1 | g.99862336G= | CA1183924419 | AGL | c.373G= (p.Asp125=) n.584G= c.325G= (p.Asp109=) c.322G= (p.Asp108=) | |
1 | g.99862336G>T | CA341331614 | AGL | c.373G>T (p.Asp125Tyr) n.584G>T c.325G>T (p.Asp109Tyr) c.322G>T (p.Asp108Tyr) | |
1 | g.99862337A>C | CA341331642 | AGL | c.374A>C (p.Asp125Ala) n.585A>C c.326A>C (p.Asp109Ala) c.323A>C (p.Asp108Ala) | |
1 | g.99862337A>G | CA341331651 | AGL | c.374A>G (p.Asp125Gly) n.585A>G c.326A>G (p.Asp109Gly) c.323A>G (p.Asp108Gly) | |
1 | g.99862337A>T | CA341331655 | AGL | c.374A>T (p.Asp125Val) n.585A>T c.326A>T (p.Asp109Val) c.323A>T (p.Asp108Val) | |
1 | g.99862338C>A | CA341331657 | AGL | c.375C>A (p.Asp125Glu) n.586C>A c.327C>A (p.Asp109Glu) c.324C>A (p.Asp108Glu) | |
1 | g.99862338C>G | CA341331658 | AGL | c.375C>G (p.Asp125Glu) n.586C>G c.327C>G (p.Asp109Glu) c.324C>G (p.Asp108Glu) | |
1 | g.99862338C>T | CA419095639 | AGL | c.375C>T (p.Asp125=) n.586C>T c.327C>T (p.Asp109=) c.324C>T (p.Asp108=) | |
1 | g.99862339T>A | CA341331663 | AGL | c.376T>A (p.Cys126Ser) n.587T>A c.328T>A (p.Cys110Ser) c.325T>A (p.Cys109Ser) | |
1 | g.99862339T>C | CA341331666 | AGL | c.376T>C (p.Cys126Arg) n.587T>C c.328T>C (p.Cys110Arg) c.325T>C (p.Cys109Arg) | |
1 | g.99862339T>G | CA341331676 | AGL | c.376T>G (p.Cys126Gly) n.587T>G c.328T>G (p.Cys110Gly) c.325T>G (p.Cys109Gly) | |
1 | g.99862342_99862343del | CA2646735360 | AGL | c.379_380del (p.Val127TyrfsTer8) n.590_591del c.331_332del (p.Val111TyrfsTer8) c.328_329del (p.Val110TyrfsTer8) | gnomAD v4 |
1 | g.99862340G>A | CA966151 | AGL | c.377G>A (p.Cys126Tyr) n.588G>A c.329G>A (p.Cys110Tyr) c.326G>A (p.Cys109Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862340G>C | CA341331702 | AGL | c.377G>C (p.Cys126Ser) n.588G>C c.329G>C (p.Cys110Ser) c.326G>C (p.Cys109Ser) | |
1 | g.99862340G= | CA1146800851 | AGL | c.377G= (p.Cys126=) n.588G= c.329G= (p.Cys110=) c.326G= (p.Cys109=) | |
1 | g.99862340G>T | CA341331696 | AGL | c.377G>T (p.Cys126Phe) n.588G>T c.329G>T (p.Cys110Phe) c.326G>T (p.Cys109Phe) | gnomAD v4 |
1 | g.99862341T>A | CA341331715 | AGL | c.378T>A (p.Cys126Ter) n.589T>A c.330T>A (p.Cys110Ter) c.327T>A (p.Cys109Ter) | ClinVar dbSNP |
1 | g.99862341T>C | CA419095657 | AGL | c.378T>C (p.Cys126=) n.589T>C c.330T>C (p.Cys110=) c.327T>C (p.Cys109=) | |
1 | g.99862341T>G | CA341331717 | AGL | c.378T>G (p.Cys126Trp) n.589T>G c.330T>G (p.Cys110Trp) c.327T>G (p.Cys109Trp) | |
1 | g.99862341T= | CA1183924426 | AGL | c.378T= (p.Cys126=) n.589T= c.330T= (p.Cys110=) c.327T= (p.Cys109=) | |
1 | g.99862342G>A | CA341331719 | AGL | c.379G>A (p.Val127Ile) n.590G>A c.331G>A (p.Val111Ile) c.328G>A (p.Val110Ile) | |
1 | g.99862342G>C | CA341331728 | AGL | c.379G>C (p.Val127Leu) n.590G>C c.331G>C (p.Val111Leu) c.328G>C (p.Val110Leu) | |
1 | g.99862342G>T | CA341331730 | AGL | c.379G>T (p.Val127Phe) n.590G>T c.331G>T (p.Val111Phe) c.328G>T (p.Val110Phe) | |
1 | g.99862342_99862345dup | CA2574444262 | AGL | c.379_382dup (p.Thr128SerfsTer9) n.590_593dup c.331_334dup (p.Thr112SerfsTer9) c.328_331dup (p.Thr111SerfsTer9) | |
1 | g.99862343T>A | CA341331750 | AGL | c.380T>A (p.Val127Asp) n.591T>A c.332T>A (p.Val111Asp) c.329T>A (p.Val110Asp) | |
1 | g.99862343T>C | CA341331748 | AGL | c.380T>C (p.Val127Ala) n.591T>C c.332T>C (p.Val111Ala) c.329T>C (p.Val110Ala) | |
1 | g.99862343T>G | CA341331746 | AGL | c.380T>G (p.Val127Gly) n.591T>G c.332T>G (p.Val111Gly) c.329T>G (p.Val110Gly) | |
1 | g.99862344T>A | CA419095674 | AGL | c.381T>A (p.Val127=) n.592T>A c.333T>A (p.Val111=) c.330T>A (p.Val110=) | |
1 | g.99862344T>C | CA419095683 | AGL | c.381T>C (p.Val127=) n.592T>C c.333T>C (p.Val111=) c.330T>C (p.Val110=) | |
1 | g.99862344T>G | CA419095676 | AGL | c.381T>G (p.Val127=) n.592T>G c.333T>G (p.Val111=) c.330T>G (p.Val110=) | |
1 | g.99862345A>C | CA341331754 | AGL | c.382A>C (p.Thr128Pro) n.593A>C c.334A>C (p.Thr112Pro) c.331A>C (p.Thr111Pro) | |
1 | g.99862345A>G | CA341331755 | AGL | c.382A>G (p.Thr128Ala) n.593A>G c.334A>G (p.Thr112Ala) c.331A>G (p.Thr111Ala) | |
1 | g.99862345A>T | CA341331756 | AGL | c.382A>T (p.Thr128Ser) n.593A>T c.334A>T (p.Thr112Ser) c.331A>T (p.Thr111Ser) | |
1 | g.99862345dup | CA2739272687 | AGL | c.382dup (p.Thr128AsnfsTer8) n.593dup c.334dup (p.Thr112AsnfsTer8) c.331dup (p.Thr111AsnfsTer8) | ClinVar |
1 | g.99862346C>A | CA341331757 | AGL | c.383C>A (p.Thr128Asn) n.594C>A c.335C>A (p.Thr112Asn) c.332C>A (p.Thr111Asn) | |
1 | g.99862346C>G | CA341331760 | AGL | c.383C>G (p.Thr128Ser) n.594C>G c.335C>G (p.Thr112Ser) c.332C>G (p.Thr111Ser) | |
1 | g.99862346C>T | CA341331766 | AGL | c.383C>T (p.Thr128Ile) n.594C>T c.335C>T (p.Thr112Ile) c.332C>T (p.Thr111Ile) | |
1 | g.99862347T>A | CA419095695 | AGL | c.384T>A (p.Thr128=) n.595T>A c.336T>A (p.Thr112=) c.333T>A (p.Thr111=) | |
1 | g.99862347T>C | CA419095698 | AGL | c.384T>C (p.Thr128=) n.595T>C c.336T>C (p.Thr112=) c.333T>C (p.Thr111=) | ClinVar dbSNP |
1 | g.99862347T>G | CA419095696 | AGL | c.384T>G (p.Thr128=) n.595T>G c.336T>G (p.Thr112=) c.333T>G (p.Thr111=) | |
1 | g.99862347T= | CA1183924433 | AGL | c.384T= (p.Thr128=) n.595T= c.336T= (p.Thr112=) c.333T= (p.Thr111=) | |
1 | g.99862348C>A | CA341331787 | AGL | c.385C>A (p.Leu129Ile) n.596C>A c.337C>A (p.Leu113Ile) c.334C>A (p.Leu112Ile) | |
1 | g.99862348C= | CA1149065661 | AGL | c.385C= (p.Leu129=) n.596C= c.337C= (p.Leu113=) c.334C= (p.Leu112=) | |
1 | g.99862348C>G | CA966152 | AGL | c.385C>G (p.Leu129Val) n.596C>G c.337C>G (p.Leu113Val) c.334C>G (p.Leu112Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862348C>T | CA27561383 | AGL | c.385C>T (p.Leu129Phe) n.596C>T c.337C>T (p.Leu113Phe) c.334C>T (p.Leu112Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862349T>A | CA341331799 | AGL | c.386T>A (p.Leu129His) n.597T>A c.338T>A (p.Leu113His) c.335T>A (p.Leu112His) | |
1 | g.99862349T>C | CA341331800 | AGL | c.386T>C (p.Leu129Pro) n.597T>C c.338T>C (p.Leu113Pro) c.335T>C (p.Leu112Pro) | |
1 | g.99862349T>G | CA341331801 | AGL | c.386T>G (p.Leu129Arg) n.597T>G c.338T>G (p.Leu113Arg) c.335T>G (p.Leu112Arg) | |
1 | g.99862350T>A | CA419095703 | AGL | c.387T>A (p.Leu129=) n.598T>A c.339T>A (p.Leu113=) c.336T>A (p.Leu112=) | |
1 | g.99862350T>C | CA419095706 | AGL | c.387T>C (p.Leu129=) n.598T>C c.339T>C (p.Leu113=) c.336T>C (p.Leu112=) | |
1 | g.99862350T>G | CA419095708 | AGL | c.387T>G (p.Leu129=) n.598T>G c.339T>G (p.Leu113=) c.336T>G (p.Leu112=) | |
1 | g.99862351C>A | CA341331811 | AGL | c.388C>A (p.Gln130Lys) n.599C>A c.340C>A (p.Gln114Lys) c.337C>A (p.Gln113Lys) | |
1 | g.99862351C= | CA1183924450 | AGL | c.388C= (p.Gln130=) n.599C= c.340C= (p.Gln114=) c.337C= (p.Gln113=) | |
1 | g.99862351C>G | CA341331820 | AGL | c.388C>G (p.Gln130Glu) n.599C>G c.340C>G (p.Gln114Glu) c.337C>G (p.Gln113Glu) | gnomAD v4 |
1 | g.99862351C>T | CA341331824 | AGL | c.388C>T (p.Gln130Ter) n.599C>T c.340C>T (p.Gln114Ter) c.337C>T (p.Gln113Ter) | ClinVar dbSNP gnomAD v2 |
1 | g.99862352A>C | CA341331862 | AGL | c.389A>C (p.Gln130Pro) n.600A>C c.341A>C (p.Gln114Pro) c.338A>C (p.Gln113Pro) | |
1 | g.99862352A>G | CA341331869 | AGL | c.389A>G (p.Gln130Arg) n.600A>G c.341A>G (p.Gln114Arg) c.338A>G (p.Gln113Arg) | |
1 | g.99862352A>T | CA341331879 | AGL | c.389A>T (p.Gln130Leu) n.600A>T c.341A>T (p.Gln114Leu) c.338A>T (p.Gln113Leu) | |
1 | g.99862353G>A | CA419095725 | AGL | c.390G>A (p.Gln130=) n.601G>A c.342G>A (p.Gln114=) c.339G>A (p.Gln113=) | |
1 | g.99862353G>C | CA341331881 | AGL | c.390G>C (p.Gln130His) n.601G>C c.342G>C (p.Gln114His) c.339G>C (p.Gln113His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99862353G= | CA1183924455 | AGL | c.390G= (p.Gln130=) n.601G= c.342G= (p.Gln114=) c.339G= (p.Gln113=) | |
1 | g.99862353G>T | CA341331883 | AGL | c.390G>T (p.Gln130His) n.601G>T c.342G>T (p.Gln114His) c.339G>T (p.Gln113His) | |
1 | g.99862354A>C | CA341331907 | AGL | c.391A>C (p.Thr131Pro) n.602A>C c.343A>C (p.Thr115Pro) c.340A>C (p.Thr114Pro) | |
1 | g.99862354A>G | CA341331891 | AGL | c.391A>G (p.Thr131Ala) n.602A>G c.343A>G (p.Thr115Ala) c.340A>G (p.Thr114Ala) | |
1 | g.99862354A>T | CA341331888 | AGL | c.391A>T (p.Thr131Ser) n.602A>T c.343A>T (p.Thr115Ser) c.340A>T (p.Thr114Ser) | |
1 | g.99862355C>A | CA341331920 | AGL | c.392C>A (p.Thr131Lys) n.603C>A c.344C>A (p.Thr115Lys) c.341C>A (p.Thr114Lys) | |
1 | g.99862355C>G | CA341331928 | AGL | c.392C>G (p.Thr131Arg) n.603C>G c.344C>G (p.Thr115Arg) c.341C>G (p.Thr114Arg) | |
1 | g.99862355C>T | CA341331924 | AGL | c.392C>T (p.Thr131Ile) n.603C>T c.344C>T (p.Thr115Ile) c.341C>T (p.Thr114Ile) | |
1 | g.99862356A= | CA1183924459 | AGL | c.393A= (p.Thr131=) n.604A= c.345A= (p.Thr115=) c.342A= (p.Thr114=) | |
1 | g.99862356A>C | CA419095751 | AGL | c.393A>C (p.Thr131=) n.604A>C c.345A>C (p.Thr115=) c.342A>C (p.Thr114=) | |
1 | g.99862356A>G | CA966153 | AGL | c.393A>G (p.Thr131=) n.604A>G c.345A>G (p.Thr115=) c.342A>G (p.Thr114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862356A>T | CA419095752 | AGL | c.393A>T (p.Thr131=) n.604A>T c.345A>T (p.Thr115=) c.342A>T (p.Thr114=) | |
1 | g.99862356_99862357delinsAT | CA1183924460 | AGL | c.393_394delinsAT (p.Thr131=) n.604_605delinsAT c.345_346delinsAT (p.Thr115=) c.342_343delinsAT (p.Thr114=) | |
1 | g.99862357T>A | CA341331933 | AGL | c.394T>A (p.Phe132Ile) n.605T>A c.346T>A (p.Phe116Ile) c.343T>A (p.Phe115Ile) | |
1 | g.99862357T>C | CA341331939 | AGL | c.394T>C (p.Phe132Leu) n.605T>C c.346T>C (p.Phe116Leu) c.343T>C (p.Phe115Leu) | |
1 | g.99862357T>G | CA341331948 | AGL | c.394T>G (p.Phe132Val) n.605T>G c.346T>G (p.Phe116Val) c.343T>G (p.Phe115Val) | |
1 | g.99862357_99862361delinsTTTTT | CA1148466845 | AGL | c.394_398delinsTTTTT (p.Phe132=) n.605_609delinsTTTTT c.346_350delinsTTTTT (p.Phe116=) c.343_347delinsTTTTT (p.Phe115=) | |
1 | g.99862361del | CA966154 | AGL | c.398del (p.Leu133Ter) n.609del c.350del (p.Leu117Ter) c.347del (p.Leu116Ter) | dbSNP ExAC |
1 | g.99862358T>A | CA341331969 | AGL | c.395T>A (p.Phe132Tyr) n.606T>A c.347T>A (p.Phe116Tyr) c.344T>A (p.Phe115Tyr) | gnomAD v4 |
1 | g.99862358T>C | CA341331972 | AGL | c.395T>C (p.Phe132Ser) n.606T>C c.347T>C (p.Phe116Ser) c.344T>C (p.Phe115Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862358T>G | CA341331976 | AGL | c.395T>G (p.Phe132Cys) n.606T>G c.347T>G (p.Phe116Cys) c.344T>G (p.Phe115Cys) | |
1 | g.99862358T= | CA1183924463 | AGL | c.395T= (p.Phe132=) n.606T= c.347T= (p.Phe116=) c.344T= (p.Phe115=) | |
1 | g.99862359T>A | CA341331989 | AGL | c.396T>A (p.Phe132Leu) n.607T>A c.348T>A (p.Phe116Leu) c.345T>A (p.Phe115Leu) | |
1 | g.99862359T>C | CA419095762 | AGL | c.396T>C (p.Phe132=) n.607T>C c.348T>C (p.Phe116=) c.345T>C (p.Phe115=) | |
1 | g.99862359T>G | CA341331994 | AGL | c.396T>G (p.Phe132Leu) n.607T>G c.348T>G (p.Phe116Leu) c.345T>G (p.Phe115Leu) | |
1 | g.99862360T>A | CA341332000 | AGL | c.397T>A (p.Leu133Ile) n.608T>A c.349T>A (p.Leu117Ile) c.346T>A (p.Leu116Ile) | |
1 | g.99862360T>C | CA419095769 | AGL | c.397T>C (p.Leu133=) n.608T>C c.349T>C (p.Leu117=) c.346T>C (p.Leu116=) | |
1 | g.99862360T>G | CA341332023 | AGL | c.397T>G (p.Leu133Val) n.608T>G c.349T>G (p.Leu117Val) c.346T>G (p.Leu116Val) | |
1 | g.99862361T>A | CA341332053 | AGL | c.398T>A (p.Leu133Ter) n.609T>A c.350T>A (p.Leu117Ter) c.347T>A (p.Leu116Ter) | |
1 | g.99862361T>C | CA341332048 | AGL | c.398T>C (p.Leu133Ser) n.609T>C c.350T>C (p.Leu117Ser) c.347T>C (p.Leu116Ser) | |
1 | g.99862361T>G | CA341332027 | AGL | c.398T>G (p.Leu133Ter) n.609T>G c.350T>G (p.Leu117Ter) c.347T>G (p.Leu116Ter) | |
1 | g.99862362A>C | CA341332067 | AGL | c.399A>C (p.Leu133Phe) n.610A>C c.351A>C (p.Leu117Phe) c.348A>C (p.Leu116Phe) | |
1 | g.99862362A>G | CA419095790 | AGL | c.399A>G (p.Leu133=) n.610A>G c.351A>G (p.Leu117=) c.348A>G (p.Leu116=) | |
1 | g.99862362A>T | CA341332069 | AGL | c.399A>T (p.Leu133Phe) n.610A>T c.351A>T (p.Leu117Phe) c.348A>T (p.Leu116Phe) | |
1 | g.99862363G>A | CA341332070 | AGL | c.400G>A (p.Ala134Thr) n.611G>A c.352G>A (p.Ala118Thr) c.349G>A (p.Ala117Thr) | gnomAD v4 |
1 | g.99862363G>C | CA341332073 | AGL | c.400G>C (p.Ala134Pro) n.611G>C c.352G>C (p.Ala118Pro) c.349G>C (p.Ala117Pro) | |
1 | g.99862363G>T | CA341332075 | AGL | c.400G>T (p.Ala134Ser) n.611G>T c.352G>T (p.Ala118Ser) c.349G>T (p.Ala117Ser) | |
1 | g.99862364C>A | CA341332082 | AGL | c.401C>A (p.Ala134Asp) n.612C>A c.353C>A (p.Ala118Asp) c.350C>A (p.Ala117Asp) | |
1 | g.99862364C>G | CA341332083 | AGL | c.401C>G (p.Ala134Gly) n.612C>G c.353C>G (p.Ala118Gly) c.350C>G (p.Ala117Gly) | ClinVar |
1 | g.99862364C>T | CA341332084 | AGL | c.401C>T (p.Ala134Val) n.612C>T c.353C>T (p.Ala118Val) c.350C>T (p.Ala117Val) | |
1 | g.99862364_99862498delinsTATTACAT | CA2697552540 | AGL | c.401_460+75delinsTATTACAT n.612_671+75delinsTATTACAT c.353_412+75delinsTATTACAT c.350_409+75delinsTATTACAT | ClinVar |
1 | g.99862365T>A | CA419095803 | AGL | c.402T>A (p.Ala134=) n.613T>A c.354T>A (p.Ala118=) c.351T>A (p.Ala117=) | gnomAD v4 |
1 | g.99862365T>C | CA419095808 | AGL | c.402T>C (p.Ala134=) n.613T>C c.354T>C (p.Ala118=) c.351T>C (p.Ala117=) | ClinVar |
1 | g.99862365T>G | CA419095801 | AGL | c.402T>G (p.Ala134=) n.613T>G c.354T>G (p.Ala118=) c.351T>G (p.Ala117=) | |
1 | g.99862366A= | CA1183924465 | AGL | c.403A= (p.Lys135=) n.614A= c.355A= (p.Lys119=) c.352A= (p.Lys118=) | |
1 | g.99862366A>C | CA341332086 | AGL | c.403A>C (p.Lys135Gln) n.614A>C c.355A>C (p.Lys119Gln) c.352A>C (p.Lys118Gln) | |
1 | g.99862366A>G | CA966155 | AGL | c.403A>G (p.Lys135Glu) n.614A>G c.355A>G (p.Lys119Glu) c.352A>G (p.Lys118Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862366A>T | CA341332093 | AGL | c.403A>T (p.Lys135Ter) n.614A>T c.355A>T (p.Lys119Ter) c.352A>T (p.Lys118Ter) | |
1 | g.99862367A= | CA1183924467 | AGL | c.404A= (p.Lys135=) n.615A= c.356A= (p.Lys119=) c.353A= (p.Lys118=) | |
1 | g.99862367A>C | CA341332126 | AGL | c.404A>C (p.Lys135Thr) n.615A>C c.356A>C (p.Lys119Thr) c.353A>C (p.Lys118Thr) | |
1 | g.99862367A>G | CA341332117 | AGL | c.404A>G (p.Lys135Arg) n.615A>G c.356A>G (p.Lys119Arg) c.353A>G (p.Lys118Arg) | dbSNP gnomAD v4 |
1 | g.99862367A>T | CA341332105 | AGL | c.404A>T (p.Lys135Met) n.615A>T c.356A>T (p.Lys119Met) c.353A>T (p.Lys118Met) | |
1 | g.99862368G>A | CA419095818 | AGL | c.405G>A (p.Lys135=) n.616G>A c.357G>A (p.Lys119=) c.354G>A (p.Lys118=) | dbSNP |
1 | g.99862368G>C | CA341332135 | AGL | c.405G>C (p.Lys135Asn) n.616G>C c.357G>C (p.Lys119Asn) c.354G>C (p.Lys118Asn) | ClinVar dbSNP gnomAD v4 |
1 | g.99862368G= | CA1183924472 | AGL | c.405G= (p.Lys135=) n.616G= c.357G= (p.Lys119=) c.354G= (p.Lys118=) | |
1 | g.99862368G>T | CA341332137 | AGL | c.405G>T (p.Lys135Asn) n.616G>T c.357G>T (p.Lys119Asn) c.354G>T (p.Lys118Asn) | |
1 | g.99862368_99862372delinsGTGTT | CA1183924471 | AGL | c.405_409delinsGTGTT (p.Lys135=) n.616_620delinsGTGTT c.357_361delinsGTGTT (p.Lys119=) c.354_358delinsGTGTT (p.Lys118=) | |
1 | g.99862369T>A | CA341332138 | AGL | c.406T>A (p.Cys136Ser) n.617T>A c.358T>A (p.Cys120Ser) c.355T>A (p.Cys119Ser) | |
1 | g.99862369T>C | CA27561399 | AGL | c.406T>C (p.Cys136Arg) n.617T>C c.358T>C (p.Cys120Arg) c.355T>C (p.Cys119Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862369T>G | CA341332150 | AGL | c.406T>G (p.Cys136Gly) n.617T>G c.358T>G (p.Cys120Gly) c.355T>G (p.Cys119Gly) | |
1 | g.99862369T= | CA1144143767 | AGL | c.406T= (p.Cys136=) n.617T= c.358T= (p.Cys120=) c.355T= (p.Cys119=) | |
1 | g.99862371_99862374del | CA966156 | AGL | c.408_411del (p.Cys136TrpfsTer21) n.619_622del c.360_363del (p.Cys120TrpfsTer21) c.357_360del (p.Cys119TrpfsTer21) | dbSNP ExAC gnomAD v2 |
1 | g.99862370G>A | CA341332174 | AGL | c.407G>A (p.Cys136Tyr) n.618G>A c.359G>A (p.Cys120Tyr) c.356G>A (p.Cys119Tyr) | dbSNP |
1 | g.99862370G>C | CA341332175 | AGL | c.407G>C (p.Cys136Ser) n.618G>C c.359G>C (p.Cys120Ser) c.356G>C (p.Cys119Ser) | |
1 | g.99862370G= | CA1183924479 | AGL | c.407G= (p.Cys136=) n.618G= c.359G= (p.Cys120=) c.356G= (p.Cys119=) | |
1 | g.99862370G>T | CA341332176 | AGL | c.407G>T (p.Cys136Phe) n.618G>T c.359G>T (p.Cys120Phe) c.356G>T (p.Cys119Phe) | |
1 | g.99862371T>A | CA341332177 | AGL | c.408T>A (p.Cys136Ter) n.619T>A c.360T>A (p.Cys120Ter) c.357T>A (p.Cys119Ter) | ClinVar |
1 | g.99862371T>C | CA419095827 | AGL | c.408T>C (p.Cys136=) n.619T>C c.360T>C (p.Cys120=) c.357T>C (p.Cys119=) | |
1 | g.99862371T>G | CA341332181 | AGL | c.408T>G (p.Cys136Trp) n.619T>G c.360T>G (p.Cys120Trp) c.357T>G (p.Cys119Trp) | |
1 | g.99862372T>A | CA341332195 | AGL | c.409T>A (p.Leu137Met) n.620T>A c.361T>A (p.Leu121Met) c.358T>A (p.Leu120Met) | |
1 | g.99862372T>C | CA419095829 | AGL | c.409T>C (p.Leu137=) n.620T>C c.361T>C (p.Leu121=) c.358T>C (p.Leu120=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99862372T>G | CA341332200 | AGL | c.409T>G (p.Leu137Val) n.620T>G c.361T>G (p.Leu121Val) c.358T>G (p.Leu120Val) | |
1 | g.99862372T= | CA1183924482 | AGL | c.409T= (p.Leu137=) n.620T= c.361T= (p.Leu121=) c.358T= (p.Leu120=) | |
1 | g.99862373T>A | CA341332208 | AGL | c.410T>A (p.Leu137Ter) n.621T>A c.362T>A (p.Leu121Ter) c.359T>A (p.Leu120Ter) | |
1 | g.99862373T>C | CA341332206 | AGL | c.410T>C (p.Leu137Ser) n.621T>C c.362T>C (p.Leu121Ser) c.359T>C (p.Leu120Ser) | |
1 | g.99862373T>G | CA341332207 | AGL | c.410T>G (p.Leu137Trp) n.621T>G c.362T>G (p.Leu121Trp) c.359T>G (p.Leu120Trp) | |
1 | g.99862373_99862376del | CA419095831 | AGL | c.410_413del (p.Leu137TyrfsTer20) n.621_624del c.362_365del (p.Leu121TyrfsTer20) c.359_362del (p.Leu120TyrfsTer20) | ClinVar dbSNP gnomAD v4 |
1 | g.99862374G>A | CA966157 | AGL | c.411G>A (p.Leu137=) n.622G>A c.363G>A (p.Leu121=) c.360G>A (p.Leu120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862374G>C | CA341332211 | AGL | c.411G>C (p.Leu137Phe) n.622G>C c.363G>C (p.Leu121Phe) c.360G>C (p.Leu120Phe) | dbSNP |
1 | g.99862374G= | CA1183924485 | AGL | c.411G= (p.Leu137=) n.622G= c.363G= (p.Leu121=) c.360G= (p.Leu120=) | |
1 | g.99862374G>T | CA341332238 | AGL | c.411G>T (p.Leu137Phe) n.622G>T c.363G>T (p.Leu121Phe) c.360G>T (p.Leu120Phe) | |
1 | g.99862375G>A | CA966158 | AGL | c.412G>A (p.Gly138Arg) n.623G>A c.364G>A (p.Gly122Arg) c.361G>A (p.Gly121Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862375G>C | CA341332261 | AGL | c.412G>C (p.Gly138Arg) n.623G>C c.364G>C (p.Gly122Arg) c.361G>C (p.Gly121Arg) | |
1 | g.99862375G= | CA1148432147 | AGL | c.412G= (p.Gly138=) n.623G= c.364G= (p.Gly122=) c.361G= (p.Gly121=) | |
1 | g.99862375G>T | CA341332273 | AGL | c.412G>T (p.Gly138Ter) n.623G>T c.364G>T (p.Gly122Ter) c.361G>T (p.Gly121Ter) | |
1 | g.99862376G>A | CA27561409 | AGL | c.413G>A (p.Gly138Glu) n.624G>A c.365G>A (p.Gly122Glu) c.362G>A (p.Gly121Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99862376G>C | CA341332288 | AGL | c.413G>C (p.Gly138Ala) n.624G>C c.365G>C (p.Gly122Ala) c.362G>C (p.Gly121Ala) | |
1 | g.99862376G= | CA1183924492 | AGL | c.413G= (p.Gly138=) n.624G= c.365G= (p.Gly122=) c.362G= (p.Gly121=) | |
1 | g.99862376G>T | CA341332290 | AGL | c.413G>T (p.Gly138Val) n.624G>T c.365G>T (p.Gly122Val) c.362G>T (p.Gly121Val) | |
1 | g.99862377A>C | CA419095839 | AGL | c.414A>C (p.Gly138=) n.625A>C c.366A>C (p.Gly122=) c.363A>C (p.Gly121=) | |
1 | g.99862377A>G | CA419095840 | AGL | c.414A>G (p.Gly138=) n.625A>G c.366A>G (p.Gly122=) c.363A>G (p.Gly121=) | ClinVar |
1 | g.99862377A>T | CA419095841 | AGL | c.414A>T (p.Gly138=) n.625A>T c.366A>T (p.Gly122=) c.363A>T (p.Gly121=) | gnomAD v4 |
1 | g.99862378C>A | CA341332298 | AGL | c.415C>A (p.Pro139Thr) n.626C>A c.367C>A (p.Pro123Thr) c.364C>A (p.Pro122Thr) | |
1 | g.99862378C>G | CA341332301 | AGL | c.415C>G (p.Pro139Ala) n.626C>G c.367C>G (p.Pro123Ala) c.364C>G (p.Pro122Ala) | |
1 | g.99862378C>T | CA341332310 | AGL | c.415C>T (p.Pro139Ser) n.626C>T c.367C>T (p.Pro123Ser) c.364C>T (p.Pro122Ser) | |
1 | g.99862379C>A | CA341332332 | AGL | c.416C>A (p.Pro139His) n.627C>A c.368C>A (p.Pro123His) c.365C>A (p.Pro122His) | |
1 | g.99862379C>G | CA341332339 | AGL | c.416C>G (p.Pro139Arg) n.627C>G c.368C>G (p.Pro123Arg) c.365C>G (p.Pro122Arg) | |
1 | g.99862379C>T | CA341332321 | AGL | c.416C>T (p.Pro139Leu) n.627C>T c.368C>T (p.Pro123Leu) c.365C>T (p.Pro122Leu) | COSMIC |
1 | g.99862379_99862380delinsCT | CA1183924493 | AGL | c.416_417delinsCT (p.Pro139=) n.627_628delinsCT c.368_369delinsCT (p.Pro123=) c.365_366delinsCT (p.Pro122=) | |
1 | g.99862380T>A | CA419095846 | AGL | c.417T>A (p.Pro139=) n.628T>A c.369T>A (p.Pro123=) c.366T>A (p.Pro122=) | |
1 | g.99862380T>C | CA419095845 | AGL | c.417T>C (p.Pro139=) n.628T>C c.369T>C (p.Pro123=) c.366T>C (p.Pro122=) | |
1 | g.99862380T>G | CA419095844 | AGL | c.417T>G (p.Pro139=) n.628T>G c.369T>G (p.Pro123=) c.366T>G (p.Pro122=) | |
1 | g.99862383del | CA524878373 | AGL | c.420del (p.Phe140LeufsTer18) n.631del c.372del (p.Phe124LeufsTer18) c.369del (p.Phe123LeufsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862381T>A | CA341332354 | AGL | c.418T>A (p.Phe140Ile) n.629T>A c.370T>A (p.Phe124Ile) c.367T>A (p.Phe123Ile) | |
1 | g.99862381T>C | CA341332347 | AGL | c.418T>C (p.Phe140Leu) n.629T>C c.370T>C (p.Phe124Leu) c.367T>C (p.Phe123Leu) | |
1 | g.99862381T>G | CA341332359 | AGL | c.418T>G (p.Phe140Val) n.629T>G c.370T>G (p.Phe124Val) c.367T>G (p.Phe123Val) | |
1 | g.99862382T>A | CA341332362 | AGL | c.419T>A (p.Phe140Tyr) n.630T>A c.371T>A (p.Phe124Tyr) c.368T>A (p.Phe123Tyr) | |
1 | g.99862382T>C | CA341332365 | AGL | c.419T>C (p.Phe140Ser) n.630T>C c.371T>C (p.Phe124Ser) c.368T>C (p.Phe123Ser) | |
1 | g.99862382T>G | CA341332366 | AGL | c.419T>G (p.Phe140Cys) n.630T>G c.371T>G (p.Phe124Cys) c.368T>G (p.Phe123Cys) | |
1 | g.99862382_99862385delinsTTGA | CA1183924502 | AGL | c.419_422delinsTTGA (p.Phe140=) n.630_633delinsTTGA c.371_374delinsTTGA (p.Phe124=) c.368_371delinsTTGA (p.Phe123=) | |
1 | g.99862383_99862386del | CA913046862 | AGL | c.420_423del (p.Phe140LeufsTer17) n.631_634del c.372_375del (p.Phe124LeufsTer17) c.369_372del (p.Phe123LeufsTer17) | |
1 | g.99862383T>A | CA341332369 | AGL | c.420T>A (p.Phe140Leu) n.631T>A c.372T>A (p.Phe124Leu) c.369T>A (p.Phe123Leu) | |
1 | g.99862383T>C | CA419095848 | AGL | c.420T>C (p.Phe140=) n.631T>C c.372T>C (p.Phe124=) c.369T>C (p.Phe123=) | |
1 | g.99862383T>G | CA341332375 | AGL | c.420T>G (p.Phe140Leu) n.631T>G c.372T>G (p.Phe124Leu) c.369T>G (p.Phe123Leu) | |
1 | g.99862386_99862388del | CA524878374 | AGL | c.423_425del (p.Asp141del) n.634_636del c.375_377del (p.Asp125del) c.372_374del (p.Asp124del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862384G>A | CA341332385 | AGL | c.421G>A (p.Asp141Asn) n.632G>A c.373G>A (p.Asp125Asn) c.370G>A (p.Asp124Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862384G>C | CA341332391 | AGL | c.421G>C (p.Asp141His) n.632G>C c.373G>C (p.Asp125His) c.370G>C (p.Asp124His) | |
1 | g.99862384G= | CA1183924509 | AGL | c.421G= (p.Asp141=) n.632G= c.373G= (p.Asp125=) c.370G= (p.Asp124=) | |
1 | g.99862384G>T | CA341332403 | AGL | c.421G>T (p.Asp141Tyr) n.632G>T c.373G>T (p.Asp125Tyr) c.370G>T (p.Asp124Tyr) | gnomAD v4 |
1 | g.99862385A= | CA1183924512 | AGL | c.422A= (p.Asp141=) n.633A= c.374A= (p.Asp125=) c.371A= (p.Asp124=) | |
1 | g.99862385A>C | CA341332409 | AGL | c.422A>C (p.Asp141Ala) n.633A>C c.374A>C (p.Asp125Ala) c.371A>C (p.Asp124Ala) | gnomAD v4 |
1 | g.99862385A>G | CA966159 | AGL | c.422A>G (p.Asp141Gly) n.633A>G c.374A>G (p.Asp125Gly) c.371A>G (p.Asp124Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862385A>T | CA341332414 | AGL | c.422A>T (p.Asp141Val) n.633A>T c.374A>T (p.Asp125Val) c.371A>T (p.Asp124Val) | |
1 | g.99862386T>A | CA341332418 | AGL | c.423T>A (p.Asp141Glu) n.634T>A c.375T>A (p.Asp125Glu) c.372T>A (p.Asp124Glu) | |
1 | g.99862386T>C | CA419095858 | AGL | c.423T>C (p.Asp141=) n.634T>C c.375T>C (p.Asp125=) c.372T>C (p.Asp124=) | |
1 | g.99862386T>G | CA341332425 | AGL | c.423T>G (p.Asp141Glu) n.634T>G c.375T>G (p.Asp125Glu) c.372T>G (p.Asp124Glu) | |
1 | g.99862387G>A | CA341332427 | AGL | c.424G>A (p.Glu142Lys) n.635G>A c.376G>A (p.Glu126Lys) c.373G>A (p.Glu125Lys) | |
1 | g.99862387G>C | CA341332432 | AGL | c.424G>C (p.Glu142Gln) n.635G>C c.376G>C (p.Glu126Gln) c.373G>C (p.Glu125Gln) | |
1 | g.99862387G>T | CA341332428 | AGL | c.424G>T (p.Glu142Ter) n.635G>T c.376G>T (p.Glu126Ter) c.373G>T (p.Glu125Ter) | |
1 | g.99862388A>C | CA341332445 | AGL | c.425A>C (p.Glu142Ala) n.636A>C c.377A>C (p.Glu126Ala) c.374A>C (p.Glu125Ala) | |
1 | g.99862388A>G | CA341332447 | AGL | c.425A>G (p.Glu142Gly) n.636A>G c.377A>G (p.Glu126Gly) c.374A>G (p.Glu125Gly) | |
1 | g.99862388A>T | CA341332462 | AGL | c.425A>T (p.Glu142Val) n.636A>T c.377A>T (p.Glu126Val) c.374A>T (p.Glu125Val) | |
1 | g.99862389A>C | CA341332468 | AGL | c.426A>C (p.Glu142Asp) n.637A>C c.378A>C (p.Glu126Asp) c.375A>C (p.Glu125Asp) | |
1 | g.99862389A>G | CA419095866 | AGL | c.426A>G (p.Glu142=) n.637A>G c.378A>G (p.Glu126=) c.375A>G (p.Glu125=) | |
1 | g.99862389A>T | CA341332471 | AGL | c.426A>T (p.Glu142Asp) n.637A>T c.378A>T (p.Glu126Asp) c.375A>T (p.Glu125Asp) | |
1 | g.99862390T>A | CA341332482 | AGL | c.427T>A (p.Trp143Arg) n.638T>A c.379T>A (p.Trp127Arg) c.376T>A (p.Trp126Arg) | |
1 | g.99862390T>C | CA341332483 | AGL | c.427T>C (p.Trp143Arg) n.638T>C c.379T>C (p.Trp127Arg) c.376T>C (p.Trp126Arg) | |
1 | g.99862390T>G | CA341332484 | AGL | c.427T>G (p.Trp143Gly) n.638T>G c.379T>G (p.Trp127Gly) c.376T>G (p.Trp126Gly) | |
1 | g.99862391G>A | CA10575460 | AGL | c.428G>A (p.Trp143Ter) n.639G>A c.380G>A (p.Trp127Ter) c.377G>A (p.Trp126Ter) | |
1 | g.99862391G>C | CA341332487 | AGL | c.428G>C (p.Trp143Ser) n.639G>C c.380G>C (p.Trp127Ser) c.377G>C (p.Trp126Ser) | |
1 | g.99862391G= | CA1183924516 | AGL | c.428G= (p.Trp143=) n.639G= c.380G= (p.Trp127=) c.377G= (p.Trp126=) | |
1 | g.99862391G>T | CA966160 | AGL | c.428G>T (p.Trp143Leu) n.639G>T c.380G>T (p.Trp127Leu) c.377G>T (p.Trp126Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862392G>A | CA341332508 | AGL | c.429G>A (p.Trp143Ter) n.640G>A c.381G>A (p.Trp127Ter) c.378G>A (p.Trp126Ter) | |
1 | g.99862392G>C | CA341332504 | AGL | c.429G>C (p.Trp143Cys) n.640G>C c.381G>C (p.Trp127Cys) c.378G>C (p.Trp126Cys) | |
1 | g.99862392G>T | CA341332498 | AGL | c.429G>T (p.Trp143Cys) n.640G>T c.381G>T (p.Trp127Cys) c.378G>T (p.Trp126Cys) | |
1 | g.99862393G>A | CA341332528 | AGL | c.430G>A (p.Glu144Lys) n.641G>A c.382G>A (p.Glu128Lys) c.379G>A (p.Glu127Lys) | dbSNP |
1 | g.99862393G>C | CA341332513 | AGL | c.430G>C (p.Glu144Gln) n.641G>C c.382G>C (p.Glu128Gln) c.379G>C (p.Glu127Gln) | |
1 | g.99862393G= | CA1183924519 | AGL | c.430G= (p.Glu144=) n.641G= c.382G= (p.Glu128=) c.379G= (p.Glu127=) | |
1 | g.99862393G>T | CA341332518 | AGL | c.430G>T (p.Glu144Ter) n.641G>T c.382G>T (p.Glu128Ter) c.379G>T (p.Glu127Ter) | |
1 | g.99862394A>C | CA341332533 | AGL | c.431A>C (p.Glu144Ala) n.642A>C c.383A>C (p.Glu128Ala) c.380A>C (p.Glu127Ala) | gnomAD v4 |
1 | g.99862394A>G | CA341332534 | AGL | c.431A>G (p.Glu144Gly) n.642A>G c.383A>G (p.Glu128Gly) c.380A>G (p.Glu127Gly) | |
1 | g.99862394A>T | CA341332535 | AGL | c.431A>T (p.Glu144Val) n.642A>T c.383A>T (p.Glu128Val) c.380A>T (p.Glu127Val) | |
1 | g.99862395A>C | CA341332549 | AGL | c.432A>C (p.Glu144Asp) n.643A>C c.384A>C (p.Glu128Asp) c.381A>C (p.Glu127Asp) | gnomAD v4 |
1 | g.99862395A>G | CA419095872 | AGL | c.432A>G (p.Glu144=) n.643A>G c.384A>G (p.Glu128=) c.381A>G (p.Glu127=) | |
1 | g.99862395A>T | CA341332559 | AGL | c.432A>T (p.Glu144Asp) n.643A>T c.384A>T (p.Glu128Asp) c.381A>T (p.Glu127Asp) | |
1 | g.99862396A>C | CA341332572 | AGL | c.433A>C (p.Ser145Arg) n.644A>C c.385A>C (p.Ser129Arg) c.382A>C (p.Ser128Arg) | |
1 | g.99862396A>G | CA341332576 | AGL | c.433A>G (p.Ser145Gly) n.644A>G c.385A>G (p.Ser129Gly) c.382A>G (p.Ser128Gly) | |
1 | g.99862396A>T | CA341332577 | AGL | c.433A>T (p.Ser145Cys) n.644A>T c.385A>T (p.Ser129Cys) c.382A>T (p.Ser128Cys) | |
1 | g.99862397G>A | CA341332591 | AGL | c.434G>A (p.Ser145Asn) n.645G>A c.386G>A (p.Ser129Asn) c.383G>A (p.Ser128Asn) | |
1 | g.99862397G>C | CA341332601 | AGL | c.434G>C (p.Ser145Thr) n.645G>C c.386G>C (p.Ser129Thr) c.383G>C (p.Ser128Thr) | |
1 | g.99862397G>T | CA341332604 | AGL | c.434G>T (p.Ser145Ile) n.645G>T c.386G>T (p.Ser129Ile) c.383G>T (p.Ser128Ile) | |
1 | g.99862398C>A | CA341332619 | AGL | c.435C>A (p.Ser145Arg) n.646C>A c.387C>A (p.Ser129Arg) c.384C>A (p.Ser128Arg) | |
1 | g.99862398C= | CA1183924522 | AGL | c.435C= (p.Ser145=) n.646C= c.387C= (p.Ser129=) c.384C= (p.Ser128=) | |
1 | g.99862398C>G | CA341332613 | AGL | c.435C>G (p.Ser145Arg) n.646C>G c.387C>G (p.Ser129Arg) c.384C>G (p.Ser128Arg) | |
1 | g.99862398C>T | CA419095873 | AGL | c.435C>T (p.Ser145=) n.646C>T c.387C>T (p.Ser129=) c.384C>T (p.Ser128=) | |
1 | g.99862399A>C | CA419095874 | AGL | c.436A>C (p.Arg146=) n.647A>C c.388A>C (p.Arg130=) c.385A>C (p.Arg129=) | |
1 | g.99862399A>G | CA341332625 | AGL | c.436A>G (p.Arg146Gly) n.647A>G c.388A>G (p.Arg130Gly) c.385A>G (p.Arg129Gly) | |
1 | g.99862399A>T | CA341332626 | AGL | c.436A>T (p.Arg146Ter) n.647A>T c.388A>T (p.Arg130Ter) c.385A>T (p.Arg129Ter) | |
1 | g.99862399dup | CA1183924523 | AGL | c.436dup (p.Arg146LysfsTer3) n.647dup c.388dup (p.Arg130LysfsTer3) c.385dup (p.Arg129LysfsTer3) | ClinVar dbSNP |
1 | g.99862399_99862400delinsAG | CA1183924524 | AGL | c.436_437delinsAG (p.Arg146=) n.647_648delinsAG c.388_389delinsAG (p.Arg130=) c.385_386delinsAG (p.Arg129=) | |
1 | g.99862400del | CA16040825 | AGL | c.437del (p.Arg146AsnfsTer12) n.648del c.389del (p.Arg130AsnfsTer12) c.386del (p.Arg129AsnfsTer12) | ClinVar dbSNP |
1 | g.99862400G>A | CA341332628 | AGL | c.437G>A (p.Arg146Lys) n.648G>A c.389G>A (p.Arg130Lys) c.386G>A (p.Arg129Lys) | |
1 | g.99862400G>C | CA341332632 | AGL | c.437G>C (p.Arg146Thr) n.648G>C c.389G>C (p.Arg130Thr) c.386G>C (p.Arg129Thr) | |
1 | g.99862400G>T | CA341332657 | AGL | c.437G>T (p.Arg146Ile) n.648G>T c.389G>T (p.Arg130Ile) c.386G>T (p.Arg129Ile) | ClinVar |
1 | g.99862401A= | CA1183924530 | AGL | c.438A= (p.Arg146=) n.649A= c.390A= (p.Arg130=) c.387A= (p.Arg129=) | |
1 | g.99862401A>C | CA341332679 | AGL | c.438A>C (p.Arg146Ser) n.649A>C c.390A>C (p.Arg130Ser) c.387A>C (p.Arg129Ser) | |
1 | g.99862401A>G | CA419095875 | AGL | c.438A>G (p.Arg146=) n.649A>G c.390A>G (p.Arg130=) c.387A>G (p.Arg129=) | |
1 | g.99862401A>T | CA341332681 | AGL | c.438A>T (p.Arg146Ser) n.649A>T c.390A>T (p.Arg130Ser) c.387A>T (p.Arg129Ser) | dbSNP |
1 | g.99862402C>A | CA341332684 | AGL | c.439C>A (p.Leu147Ile) n.650C>A c.391C>A (p.Leu131Ile) c.388C>A (p.Leu130Ile) | |
1 | g.99862402C= | CA1183924532 | AGL | c.439C= (p.Leu147=) n.650C= c.391C= (p.Leu131=) c.388C= (p.Leu130=) | |
1 | g.99862402C>G | CA341332694 | AGL | c.439C>G (p.Leu147Val) n.650C>G c.391C>G (p.Leu131Val) c.388C>G (p.Leu130Val) | |
1 | g.99862402C>T | CA341332701 | AGL | c.439C>T (p.Leu147Phe) n.650C>T c.391C>T (p.Leu131Phe) c.388C>T (p.Leu130Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.99862402_99862404delinsCTT | CA1183924534 | AGL | c.439_441delinsCTT (p.Leu147=) n.650_652delinsCTT c.391_393delinsCTT (p.Leu131=) c.388_390delinsCTT (p.Leu130=) | |
1 | g.99862403T>A | CA341332707 | AGL | c.440T>A (p.Leu147His) n.651T>A c.392T>A (p.Leu131His) c.389T>A (p.Leu130His) | |
1 | g.99862403T>C | CA341332714 | AGL | c.440T>C (p.Leu147Pro) n.651T>C c.392T>C (p.Leu131Pro) c.389T>C (p.Leu130Pro) | |
1 | g.99862403T>G | CA341332717 | AGL | c.440T>G (p.Leu147Arg) n.651T>G c.392T>G (p.Leu131Arg) c.389T>G (p.Leu130Arg) | |
1 | g.99862403_99862404del | CA524878375 | AGL | c.440_441del (p.Leu147GlnfsTer23) n.651_652del c.392_393del (p.Leu131GlnfsTer23) c.389_390del (p.Leu130GlnfsTer23) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862404T>A | CA419095877 | AGL | c.441T>A (p.Leu147=) n.652T>A c.393T>A (p.Leu131=) c.390T>A (p.Leu130=) | |
1 | g.99862404T>C | CA419095878 | AGL | c.441T>C (p.Leu147=) n.652T>C c.393T>C (p.Leu131=) c.390T>C (p.Leu130=) | |
1 | g.99862404T>G | CA419095879 | AGL | c.441T>G (p.Leu147=) n.652T>G c.393T>G (p.Leu131=) c.390T>G (p.Leu130=) | gnomAD v4 |
1 | g.99862404_99862405delinsTA | CA1183924542 | AGL | c.441_442delinsTA (p.Leu147=) n.652_653delinsTA c.393_394delinsTA (p.Leu131=) c.390_391delinsTA (p.Leu130=) | |
1 | g.99862405del | CA16040826 | AGL | c.442del (p.Arg148GlyfsTer10) n.653del c.394del (p.Arg132GlyfsTer10) c.391del (p.Arg131GlyfsTer10) | ClinVar dbSNP |
1 | g.99862405A= | CA1147819699 | AGL | c.442A= (p.Arg148=) n.653A= c.394A= (p.Arg132=) c.391A= (p.Arg131=) | |
1 | g.99862405A>C | CA419095880 | AGL | c.442A>C (p.Arg148=) n.653A>C c.394A>C (p.Arg132=) c.391A>C (p.Arg131=) | |
1 | g.99862405A>G | CA966161 | AGL | c.442A>G (p.Arg148Gly) n.653A>G c.394A>G (p.Arg132Gly) c.391A>G (p.Arg131Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862405A>T | CA341332742 | AGL | c.442A>T (p.Arg148Trp) n.653A>T c.394A>T (p.Arg132Trp) c.391A>T (p.Arg131Trp) | |
1 | g.99862406G>A | CA966162 | AGL | c.443G>A (p.Arg148Lys) n.654G>A c.395G>A (p.Arg132Lys) c.392G>A (p.Arg131Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862406G>C | CA341332763 | AGL | c.443G>C (p.Arg148Thr) n.654G>C c.395G>C (p.Arg132Thr) c.392G>C (p.Arg131Thr) | |
1 | g.99862406G= | CA1145426729 | AGL | c.443G= (p.Arg148=) n.654G= c.395G= (p.Arg132=) c.392G= (p.Arg131=) | |
1 | g.99862406G>T | CA341332760 | AGL | c.443G>T (p.Arg148Met) n.654G>T c.395G>T (p.Arg132Met) c.392G>T (p.Arg131Met) | |
1 | g.99862407G>A | CA419095881 | AGL | c.444G>A (p.Arg148=) n.655G>A c.396G>A (p.Arg132=) c.393G>A (p.Arg131=) | |
1 | g.99862407G>C | CA341332767 | AGL | c.444G>C (p.Arg148Ser) n.655G>C c.396G>C (p.Arg132Ser) c.393G>C (p.Arg131Ser) | gnomAD v4 |
1 | g.99862407G>T | CA341332768 | AGL | c.444G>T (p.Arg148Ser) n.655G>T c.396G>T (p.Arg132Ser) c.393G>T (p.Arg131Ser) | gnomAD v4 |
1 | g.99862408G>A | CA341332780 | AGL | c.445G>A (p.Val149Ile) n.656G>A c.397G>A (p.Val133Ile) c.394G>A (p.Val132Ile) | gnomAD v4 |
1 | g.99862408G>C | CA341332786 | AGL | c.445G>C (p.Val149Leu) n.656G>C c.397G>C (p.Val133Leu) c.394G>C (p.Val132Leu) | |
1 | g.99862408G>T | CA341332787 | AGL | c.445G>T (p.Val149Phe) n.656G>T c.397G>T (p.Val133Phe) c.394G>T (p.Val132Phe) | |
1 | g.99862409T>A | CA341332791 | AGL | c.446T>A (p.Val149Asp) n.657T>A c.398T>A (p.Val133Asp) c.395T>A (p.Val132Asp) | |
1 | g.99862409T>C | CA966163 | AGL | c.446T>C (p.Val149Ala) n.657T>C c.398T>C (p.Val133Ala) c.395T>C (p.Val132Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862409T>G | CA341332808 | AGL | c.446T>G (p.Val149Gly) n.657T>G c.398T>G (p.Val133Gly) c.395T>G (p.Val132Gly) | |
1 | g.99862409T= | CA1183924561 | AGL | c.446T= (p.Val149=) n.657T= c.398T= (p.Val133=) c.395T= (p.Val132=) | |
1 | g.99862410T>A | CA419095882 | AGL | c.447T>A (p.Val149=) n.658T>A c.399T>A (p.Val133=) c.396T>A (p.Val132=) | |
1 | g.99862410T>C | CA419095883 | AGL | c.447T>C (p.Val149=) n.658T>C c.399T>C (p.Val133=) c.396T>C (p.Val132=) | |
1 | g.99862410T>G | CA419095884 | AGL | c.447T>G (p.Val149=) n.658T>G c.399T>G (p.Val133=) c.396T>G (p.Val132=) | |
1 | g.99862411G>A | CA341332809 | AGL | c.448G>A (p.Ala150Thr) n.659G>A c.400G>A (p.Ala134Thr) c.397G>A (p.Ala133Thr) | |
1 | g.99862411G>C | CA341332817 | AGL | c.448G>C (p.Ala150Pro) n.659G>C c.400G>C (p.Ala134Pro) c.397G>C (p.Ala133Pro) | |
1 | g.99862411G>T | CA341332826 | AGL | c.448G>T (p.Ala150Ser) n.659G>T c.400G>T (p.Ala134Ser) c.397G>T (p.Ala133Ser) | |
1 | g.99862412C>A | CA341332848 | AGL | c.449C>A (p.Ala150Glu) n.660C>A c.401C>A (p.Ala134Glu) c.398C>A (p.Ala133Glu) | |
1 | g.99862412C>G | CA341332835 | AGL | c.449C>G (p.Ala150Gly) n.660C>G c.401C>G (p.Ala134Gly) c.398C>G (p.Ala133Gly) | |
1 | g.99862412C>T | CA341332844 | AGL | c.449C>T (p.Ala150Val) n.660C>T c.401C>T (p.Ala134Val) c.398C>T (p.Ala133Val) | |
1 | g.99862413A= | CA1183924563 | AGL | c.450A= (p.Ala150=) n.661A= c.402A= (p.Ala134=) c.399A= (p.Ala133=) | |
1 | g.99862413A>C | CA419095885 | AGL | c.450A>C (p.Ala150=) n.661A>C c.402A>C (p.Ala134=) c.399A>C (p.Ala133=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99862413A>G | CA419095886 | AGL | c.450A>G (p.Ala150=) n.661A>G c.402A>G (p.Ala134=) c.399A>G (p.Ala133=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99862413A>T | CA419095887 | AGL | c.450A>T (p.Ala150=) n.661A>T c.402A>T (p.Ala134=) c.399A>T (p.Ala133=) | |
1 | g.99862414A>C | CA341332856 | AGL | c.451A>C (p.Lys151Gln) n.662A>C c.403A>C (p.Lys135Gln) c.400A>C (p.Lys134Gln) | |
1 | g.99862414A>G | CA341332866 | AGL | c.451A>G (p.Lys151Glu) n.662A>G c.403A>G (p.Lys135Glu) c.400A>G (p.Lys134Glu) | |
1 | g.99862414A>T | CA341332869 | AGL | c.451A>T (p.Lys151Ter) n.662A>T c.403A>T (p.Lys135Ter) c.400A>T (p.Lys134Ter) | |
1 | g.99862415A>C | CA341332879 | AGL | c.452A>C (p.Lys151Thr) n.663A>C c.404A>C (p.Lys135Thr) c.401A>C (p.Lys134Thr) | |
1 | g.99862415A>G | CA341332885 | AGL | c.452A>G (p.Lys151Arg) n.663A>G c.404A>G (p.Lys135Arg) c.401A>G (p.Lys134Arg) | |
1 | g.99862415A>T | CA341332888 | AGL | c.452A>T (p.Lys151Ile) n.663A>T c.404A>T (p.Lys135Ile) c.401A>T (p.Lys134Ile) | |
1 | g.99862416A>C | CA341332899 | AGL | c.453A>C (p.Lys151Asn) n.664A>C c.405A>C (p.Lys135Asn) c.402A>C (p.Lys134Asn) | |
1 | g.99862416A>G | CA419095888 | AGL | c.453A>G (p.Lys151=) n.664A>G c.405A>G (p.Lys135=) c.402A>G (p.Lys134=) | |
1 | g.99862416A>T | CA341332904 | AGL | c.453A>T (p.Lys151Asn) n.664A>T c.405A>T (p.Lys135Asn) c.402A>T (p.Lys134Asn) | |
1 | g.99862417G>A | CA341332929 | AGL | c.454G>A (p.Glu152Lys) n.665G>A c.406G>A (p.Glu136Lys) c.403G>A (p.Glu135Lys) | gnomAD v4 |
1 | g.99862417G>C | CA341332949 | AGL | c.454G>C (p.Glu152Gln) n.665G>C c.406G>C (p.Glu136Gln) c.403G>C (p.Glu135Gln) | dbSNP COSMIC |
1 | g.99862417G= | CA1183924566 | AGL | c.454G= (p.Glu152=) n.665G= c.406G= (p.Glu136=) c.403G= (p.Glu135=) | |
1 | g.99862417G>T | CA341332967 | AGL | c.454G>T (p.Glu152Ter) n.665G>T c.406G>T (p.Glu136Ter) c.403G>T (p.Glu135Ter) | ClinVar dbSNP |
1 | g.99862418A= | CA1183924576 | AGL | c.455A= (p.Glu152=) n.666A= c.407A= (p.Glu136=) c.404A= (p.Glu135=) | |
1 | g.99862418A>C | CA341332975 | AGL | c.455A>C (p.Glu152Ala) n.666A>C c.407A>C (p.Glu136Ala) c.404A>C (p.Glu135Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862418A>G | CA341332977 | AGL | c.455A>G (p.Glu152Gly) n.666A>G c.407A>G (p.Glu136Gly) c.404A>G (p.Glu135Gly) | gnomAD v4 |
1 | g.99862418A>T | CA341332974 | AGL | c.455A>T (p.Glu152Val) n.666A>T c.407A>T (p.Glu136Val) c.404A>T (p.Glu135Val) | |
1 | g.99862419del | CA2837994685 | AGL | c.456del (p.Glu152AspfsTer6) n.667del c.408del (p.Glu136AspfsTer6) c.405del (p.Glu135AspfsTer6) | |
1 | g.99862418_99862419insTT | CA2547901912 | AGL | c.455_456insTT (p.Glu152AspfsTer7) n.666_667insTT c.407_408insTT (p.Glu136AspfsTer7) c.404_405insTT (p.Glu135AspfsTer7) | |
1 | g.99862419A>C | CA341332978 | AGL | c.456A>C (p.Glu152Asp) n.667A>C c.408A>C (p.Glu136Asp) c.405A>C (p.Glu135Asp) | |
1 | g.99862419A>G | CA419095890 | AGL | c.456A>G (p.Glu152=) n.667A>G c.408A>G (p.Glu136=) c.405A>G (p.Glu135=) | gnomAD v4 |
1 | g.99862419A>T | CA341332991 | AGL | c.456A>T (p.Glu152Asp) n.667A>T c.408A>T (p.Glu136Asp) c.405A>T (p.Glu135Asp) | |
1 | g.99862420T>A | CA341332993 | AGL | c.457T>A (p.Ser153Thr) n.668T>A c.409T>A (p.Ser137Thr) c.406T>A (p.Ser136Thr) | |
1 | g.99862420T>C | CA341332994 | AGL | c.457T>C (p.Ser153Pro) n.668T>C c.409T>C (p.Ser137Pro) c.406T>C (p.Ser136Pro) | |
1 | g.99862420T>G | CA341332995 | AGL | c.457T>G (p.Ser153Ala) n.668T>G c.409T>G (p.Ser137Ala) c.406T>G (p.Ser136Ala) | |
1 | g.99862421C>A | CA341333011 | AGL | c.458C>A (p.Ser153Ter) n.669C>A c.410C>A (p.Ser137Ter) c.407C>A (p.Ser136Ter) | ClinVar dbSNP |
1 | g.99862421C= | CA1183924583 | AGL | c.458C= (p.Ser153=) n.669C= c.410C= (p.Ser137=) c.407C= (p.Ser136=) | |
1 | g.99862421C>G | CA341333010 | AGL | c.458C>G (p.Ser153Ter) n.669C>G c.410C>G (p.Ser137Ter) c.407C>G (p.Ser136Ter) | COSMIC COSMIC |
1 | g.99862421C>T | CA341333009 | AGL | c.458C>T (p.Ser153Leu) n.669C>T c.410C>T (p.Ser137Leu) c.407C>T (p.Ser136Leu) | |
1 | g.99862422A>C | CA419095891 | AGL | c.459A>C (p.Ser153=) n.670A>C c.411A>C (p.Ser137=) c.408A>C (p.Ser136=) | |
1 | g.99862422A>G | CA419095892 | AGL | c.459A>G (p.Ser153=) n.670A>G c.411A>G (p.Ser137=) c.408A>G (p.Ser136=) | |
1 | g.99862422A>T | CA419095893 | AGL | c.459A>T (p.Ser153=) n.670A>T c.411A>T (p.Ser137=) c.408A>T (p.Ser136=) | |
1 | g.99862423G>A | CA341333012 | AGL | c.460G>A (p.Gly154Ser) n.671G>A c.412G>A (p.Gly138Ser) c.409G>A (p.Gly137Ser) | |
1 | g.99862423G>C | CA341333014 | AGL | c.460G>C (p.Gly154Arg) n.671G>C c.412G>C (p.Gly138Arg) c.409G>C (p.Gly137Arg) | gnomAD v4 |
1 | g.99862423G>T | CA341333029 | AGL | c.460G>T (p.Gly154Cys) n.671G>T c.412G>T (p.Gly138Cys) c.409G>T (p.Gly137Cys) | |
1 | g.99862424G>A | CA27561461 | AGL | c.460+1G>A (n.460+1G>A) n.671+1G>A c.412+1G>A (n.412+1G>A) c.409+1G>A (n.409+1G>A) | ClinVar dbSNP |
1 | g.99862424G>C | CA341333048 | AGL | c.460+1G>C (n.460+1G>C) n.671+1G>C c.412+1G>C (n.412+1G>C) c.409+1G>C (n.409+1G>C) | |
1 | g.99862424G= | CA1183924587 | AGL | c.460+1G= (n.460+1G=) n.671+1G= c.412+1G= (n.412+1G=) c.409+1G= (n.409+1G=) | |
1 | g.99862424G>T | CA341333052 | AGL | c.460+1G>T (n.460+1G>T) n.671+1G>T c.412+1G>T (n.412+1G>T) c.409+1G>T (n.409+1G>T) | |
1 | g.99862425T>A | CA341333058 | AGL | c.460+2T>A (n.460+2T>A) n.671+2T>A c.412+2T>A (n.412+2T>A) c.409+2T>A (n.409+2T>A) | |
1 | g.99862425T>C | CA341333068 | AGL | c.460+2T>C (n.460+2T>C) n.671+2T>C c.412+2T>C (n.412+2T>C) c.409+2T>C (n.409+2T>C) | |
1 | g.99862425T>G | CA341333066 | AGL | c.460+2T>G (n.460+2T>G) n.671+2T>G c.412+2T>G (n.412+2T>G) c.409+2T>G (n.409+2T>G) | |
1 | g.99862427A= | CA1183924594 | AGL | c.460+4A= (n.460+4A=) n.671+4A= c.412+4A= (n.412+4A=) c.409+4A= (n.409+4A=) | |
1 | g.99862427A>G | CA1004943036 | AGL | c.460+4A>G (n.460+4A>G) n.671+4A>G c.412+4A>G (n.412+4A>G) c.409+4A>G (n.409+4A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99862428T>C | CA2646735479 | AGL | c.460+5T>C (n.460+5T>C) n.671+5T>C c.412+5T>C (n.412+5T>C) c.409+5T>C (n.409+5T>C) | gnomAD v4 |
1 | g.99862430T>C | CA658656946 | AGL | c.460+7T>C (n.460+7T>C) n.671+7T>C c.412+7T>C (n.412+7T>C) c.409+7T>C (n.409+7T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99862430T= | CA1183924597 | AGL | c.460+7T= (n.460+7T=) n.671+7T= c.412+7T= (n.412+7T=) c.409+7T= (n.409+7T=) | |
1 | g.99862431C>T | CA2646735482 | AGL | c.460+8C>T (n.460+8C>T) n.671+8C>T c.412+8C>T (n.412+8C>T) c.409+8C>T (n.409+8C>T) | gnomAD v4 |
1 | g.99862432A= | CA1183924601 | AGL | c.460+9A= (n.460+9A=) n.671+9A= c.412+9A= (n.412+9A=) c.409+9A= (n.409+9A=) | |
1 | g.99862432A>C | CA524878376 | AGL | c.460+9A>C (n.460+9A>C) n.671+9A>C c.412+9A>C (n.412+9A>C) c.409+9A>C (n.409+9A>C) | dbSNP gnomAD v2 |
1 | g.99862433G>T | CA2646735484 | AGL | c.460+10G>T (n.460+10G>T) n.671+10G>T c.412+10G>T (n.412+10G>T) c.409+10G>T (n.409+10G>T) | ClinVar gnomAD v4 |
1 | g.99862434C= | CA1183924602 | AGL | c.460+11C= (n.460+11C=) n.671+11C= c.412+11C= (n.412+11C=) c.409+11C= (n.409+11C=) | |
1 | g.99862434C>T | CA1183924603 | AGL | c.460+11C>T (n.460+11C>T) n.671+11C>T c.412+11C>T (n.412+11C>T) c.409+11C>T (n.409+11C>T) | dbSNP |
1 | g.99862435T>A | CA2646735486 | AGL | c.460+12T>A (n.460+12T>A) n.671+12T>A c.412+12T>A (n.412+12T>A) c.409+12T>A (n.409+12T>A) | gnomAD v4 |
1 | g.99862436T>G | CA2562150463 | AGL | c.460+13T>G (n.460+13T>G) n.671+13T>G c.412+13T>G (n.412+13T>G) c.409+13T>G (n.409+13T>G) |