| 9 | g.78304679_78304687dup | CA2690397160 | PSAT1 | c.192-56_192-48dup (n.192-56_192-48dup)
| gnomAD v4 |
| 9 | g.78304687T>A | CA2580877464 | PSAT1 | c.192-48T>A (n.192-48T>A)
| |
| 9 | g.78304687T>C | CA5095553 | PSAT1 | c.192-48T>C (n.192-48T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304687T>G | CA2580877463 | PSAT1 | c.192-48T>G (n.192-48T>G)
| |
| 9 | g.78304687T= | CA1857665658 | PSAT1 | c.192-48T= (n.192-48T=)
| |
| 9 | g.78304688T>C | CA2579362206 | PSAT1 | c.192-47T>C (n.192-47T>C)
| |
| 9 | g.78304691_78304698del | CA2690397163 | PSAT1 | c.192-44_192-37del (n.192-44_192-37del)
| gnomAD v4 |
| 9 | g.78304689G>T | CA2690397164 | PSAT1 | c.192-46G>T (n.192-46G>T)
| gnomAD v4 |
| 9 | g.78304690A>G | CA2690397165 | PSAT1 | c.192-45A>G (n.192-45A>G)
| gnomAD v4 |
| 9 | g.78304692C>A | CA2579362207 | PSAT1 | c.192-43C>A (n.192-43C>A)
| |
| 9 | g.78304693A>G | CA2690397166 | PSAT1 | c.192-42A>G (n.192-42A>G)
| gnomAD v4 |
| 9 | g.78304694del | CA2579362208 | PSAT1 | c.192-41del (n.192-41del)
| gnomAD v4 |
| 9 | g.78304694C>G | CA2690397167 | PSAT1 | c.192-41C>G (n.192-41C>G)
| gnomAD v4 |
| 9 | g.78304694_78304696delinsCAT | CA1857665659 | PSAT1 | c.192-41_192-39delinsCAT (n.192-41_192-39delinsCAT)
| |
| 9 | g.78304695A>G | CA2690397168 | PSAT1 | c.192-40A>G (n.192-40A>G)
| gnomAD v4 |
| 9 | g.78304695_78304696del | CA1857665660 | PSAT1 | c.192-40_192-39del (n.192-40_192-39del)
| dbSNP |
| 9 | g.78304696T>A | CA2690397169 | PSAT1 | c.192-39T>A (n.192-39T>A)
| gnomAD v4 |
| 9 | g.78304696T>C | CA5095554 | PSAT1 | c.192-39T>C (n.192-39T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304696T>G | CA5095555 | PSAT1 | c.192-39T>G (n.192-39T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304696T= | CA1857665661 | PSAT1 | c.192-39T= (n.192-39T=)
| |
| 9 | g.78304699G>A | CA5095556 | PSAT1 | c.192-36G>A (n.192-36G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304699G= | CA1857665662 | PSAT1 | c.192-36G= (n.192-36G=)
| |
| 9 | g.78304699_78304700delinsGT | CA1857665663 | PSAT1 | c.192-36_192-35delinsGT (n.192-36_192-35delinsGT)
| |
| 9 | g.78304702del | CA1857665664 | PSAT1 | c.192-33del (n.192-33del)
| dbSNP gnomAD v4 |
| 9 | g.78304703A= | CA1857665666 | PSAT1 | c.192-32A= (n.192-32A=)
| |
| 9 | g.78304703A>T | CA1857665665 | PSAT1 | c.192-32A>T (n.192-32A>T)
| dbSNP |
| 9 | g.78304705G>A | CA5095557 | PSAT1 | c.192-30G>A (n.192-30G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304705G= | CA1857665667 | PSAT1 | c.192-30G= (n.192-30G=)
| |
| 9 | g.78304705G>T | CA2690397170 | PSAT1 | c.192-30G>T (n.192-30G>T)
| gnomAD v4 |
| 9 | g.78304707A= | CA1857665668 | PSAT1 | c.192-28A= (n.192-28A=)
| |
| 9 | g.78304707A>G | CA1857665669 | PSAT1 | c.192-28A>G (n.192-28A>G)
| dbSNP gnomAD v4 |
| 9 | g.78304709T>C | CA2690397171 | PSAT1 | c.192-26T>C (n.192-26T>C)
| gnomAD v4 |
| 9 | g.78304710G>A | CA2690397172 | PSAT1 | c.192-25G>A (n.192-25G>A)
| gnomAD v4 |
| 9 | g.78304710G>C | CA2690397173 | PSAT1 | c.192-25G>C (n.192-25G>C)
| gnomAD v4 |
| 9 | g.78304710G>T | CA2690397174 | PSAT1 | c.192-25G>T (n.192-25G>T)
| dbSNP gnomAD v4 |
| 9 | g.78304712C>A | CA1857665671 | PSAT1 | c.192-23C>A (n.192-23C>A)
| dbSNP gnomAD v4 |
| 9 | g.78304712C= | CA1857665670 | PSAT1 | c.192-23C= (n.192-23C=)
| |
| 9 | g.78304712C>G | CA194440897 | PSAT1 | c.192-23C>G (n.192-23C>G)
| dbSNP gnomAD v4 |
| 9 | g.78304714G>A | CA2690397175 | PSAT1 | c.192-21G>A (n.192-21G>A)
| gnomAD v4 |
| 9 | g.78304714G>T | CA2690397176 | PSAT1 | c.192-21G>T (n.192-21G>T)
| gnomAD v4 |
| 9 | g.78304715T>C | CA867185057 | PSAT1 | c.192-20T>C (n.192-20T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304715T= | CA1857665672 | PSAT1 | c.192-20T= (n.192-20T=)
| |
| 9 | g.78304716T>C | CA1857665673 | PSAT1 | c.192-19T>C (n.192-19T>C)
| dbSNP |
| 9 | g.78304716T= | CA1857665674 | PSAT1 | c.192-19T= (n.192-19T=)
| |
| 9 | g.78304718C>A | CA5095558 | PSAT1 | c.192-17C>A (n.192-17C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304718C= | CA1857665675 | PSAT1 | c.192-17C= (n.192-17C=)
| |
| 9 | g.78304718C>G | CA2690397177 | PSAT1 | c.192-17C>G (n.192-17C>G)
| gnomAD v4 |
| 9 | g.78304718C>T | CA588662787 | PSAT1 | c.192-17C>T (n.192-17C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304719C= | CA1857665676 | PSAT1 | c.192-16C= (n.192-16C=)
| |
| 9 | g.78304719C>G | CA194440900 | PSAT1 | c.192-16C>G (n.192-16C>G)
| ClinVar dbSNP |
| 9 | g.78304719C>T | CA2690397178 | PSAT1 | c.192-16C>T (n.192-16C>T)
| gnomAD v4 |
| 9 | g.78304720T>A | CA2690397179 | PSAT1 | c.192-15T>A (n.192-15T>A)
| gnomAD v4 |
| 9 | g.78304721A= | CA1857665677 | PSAT1 | c.192-14A= (n.192-14A=)
| |
| 9 | g.78304721A>C | CA5095559 | PSAT1 | c.192-14A>C (n.192-14A>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304721A>G | CA1857665678 | PSAT1 | c.192-14A>G (n.192-14A>G)
| dbSNP |
| 9 | g.78304722T>G | CA2690397180 | PSAT1 | c.192-13T>G (n.192-13T>G)
| gnomAD v4 |
| 9 | g.78304724C>A | CA2690397181 | PSAT1 | c.192-11C>A (n.192-11C>A)
| gnomAD v4 |
| 9 | g.78304724C= | CA1857665679 | PSAT1 | c.192-11C= (n.192-11C=)
| |
| 9 | g.78304724C>G | CA867185070 | PSAT1 | c.192-11C>G (n.192-11C>G)
| dbSNP |
| 9 | g.78304725T>C | CA5095560 | PSAT1 | c.192-10T>C (n.192-10T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304725T>G | CA2690397182 | PSAT1 | c.192-10T>G (n.192-10T>G)
| gnomAD v4 |
| 9 | g.78304725T= | CA1857665680 | PSAT1 | c.192-10T= (n.192-10T=)
| |
| 9 | g.78304726T>A | CA2690397183 | PSAT1 | c.192-9T>A (n.192-9T>A)
| gnomAD v4 |
| 9 | g.78304728T>C | CA1857665682 | PSAT1 | c.192-7T>C (n.192-7T>C)
| dbSNP |
| 9 | g.78304728T>G | CA1857665683 | PSAT1 | c.192-7T>G (n.192-7T>G)
| dbSNP |
| 9 | g.78304728T= | CA1857665681 | PSAT1 | c.192-7T= (n.192-7T=)
| |
| 9 | g.78304729G>A | CA2690397185 | PSAT1 | c.192-6G>A (n.192-6G>A)
| gnomAD v4 |
| 9 | g.78304729G= | CA1857665685 | PSAT1 | c.192-6G= (n.192-6G=)
| |
| 9 | g.78304729G>T | CA1857665684 | PSAT1 | c.192-6G>T (n.192-6G>T)
| dbSNP |
| 9 | g.78304731_78304737del | CA2690397184 | PSAT1 | c.192-4_194del
| gnomAD v4 |
| 9 | g.78304730C= | CA1857665686 | PSAT1 | c.192-5C= (n.192-5C=)
| |
| 9 | g.78304730C>G | CA2690397186 | PSAT1 | c.192-5C>G (n.192-5C>G)
| gnomAD v4 |
| 9 | g.78304730C>T | CA1857665687 | PSAT1 | c.192-5C>T (n.192-5C>T)
| dbSNP gnomAD v4 |
| 9 | g.78304732C>A | CA2579362209 | PSAT1 | c.192-3C>A (n.192-3C>A)
| |
| 9 | g.78304733A= | CA1857665688 | PSAT1 | c.192-2A= (n.192-2A=)
| |
| 9 | g.78304733A>C | CA5095561 | PSAT1 | c.192-2A>C (n.192-2A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304733A>G | CA373871973 | PSAT1 | c.192-2A>G (n.192-2A>G)
| |
| 9 | g.78304733A>T | CA373871974 | PSAT1 | c.192-2A>T (n.192-2A>T)
| |
| 9 | g.78304734G>A | CA373871975 | PSAT1 | c.192-1G>A (n.192-1G>A)
| |
| 9 | g.78304734G>C | CA373871976 | PSAT1 | c.192-1G>C (n.192-1G>C)
| gnomAD v4 |
| 9 | g.78304734G>T | CA373871977 | PSAT1 | c.192-1G>T (n.192-1G>T)
| |
| 9 | g.78304735A>C | CA465542864 | PSAT1 | c.192A>C (p.Leu64=)
| |
| 9 | g.78304735A>G | CA465542865 | PSAT1 | c.192A>G (p.Leu64=)
| |
| 9 | g.78304735A>T | CA465542866 | PSAT1 | c.192A>T (p.Leu64=)
| |
| 9 | g.78304736G>A | CA373871978 | PSAT1 | c.193G>A (p.Ala65Thr)
| |
| 9 | g.78304736G>C | CA373871979 | PSAT1 | c.193G>C (p.Ala65Pro)
| |
| 9 | g.78304736G= | CA1857665689 | PSAT1 | c.193G= (p.Ala65=)
| |
| 9 | g.78304736G>T | CA373871980 | PSAT1 | c.193G>T (p.Ala65Ser)
| dbSNP COSMIC |
| 9 | g.78304737C>A | CA373871981 | PSAT1 | c.194C>A (p.Ala65Asp)
| gnomAD v4 |
| 9 | g.78304737C= | CA1857665690 | PSAT1 | c.194C= (p.Ala65=)
| |
| 9 | g.78304737C>G | CA373871983 | PSAT1 | c.194C>G (p.Ala65Gly)
| |
| 9 | g.78304737C>T | CA373871982 | PSAT1 | c.194C>T (p.Ala65Val)
| dbSNP gnomAD v4 |
| 9 | g.78304738T>A | CA465542867 | PSAT1 | c.195T>A (p.Ala65=)
| |
| 9 | g.78304738T>C | CA465542868 | PSAT1 | c.195T>C (p.Ala65=)
| |
| 9 | g.78304738T>G | CA465542869 | PSAT1 | c.195T>G (p.Ala65=)
| |
| 9 | g.78304739G>A | CA373871984 | PSAT1 | c.196G>A (p.Val66Ile)
| |
| 9 | g.78304739G>C | CA373871985 | PSAT1 | c.196G>C (p.Val66Leu)
| |
| 9 | g.78304739G>T | CA373871986 | PSAT1 | c.196G>T (p.Val66Phe)
| |
| 9 | g.78304740T>A | CA373871987 | PSAT1 | c.197T>A (p.Val66Asp)
| |
| 9 | g.78304740T>C | CA373871988 | PSAT1 | c.197T>C (p.Val66Ala)
| |
| 9 | g.78304740T>G | CA373871989 | PSAT1 | c.197T>G (p.Val66Gly)
| |
| 9 | g.78304741T>A | CA465542873 | PSAT1 | c.198T>A (p.Val66=)
| ClinVar dbSNP |
| 9 | g.78304741T>C | CA465542874 | PSAT1 | c.198T>C (p.Val66=)
| |
| 9 | g.78304741T>G | CA465542875 | PSAT1 | c.198T>G (p.Val66=)
| |
| 9 | g.78304742C>A | CA373871990 | PSAT1 | c.199C>A (p.Pro67Thr)
| |
| 9 | g.78304742C= | CA1857665691 | PSAT1 | c.199C= (p.Pro67=)
| |
| 9 | g.78304742C>G | CA373871991 | PSAT1 | c.199C>G (p.Pro67Ala)
| dbSNP |
| 9 | g.78304742C>T | CA373871992 | PSAT1 | c.199C>T (p.Pro67Ser)
| |
| 9 | g.78304743C>A | CA373871993 | PSAT1 | c.200C>A (p.Pro67Gln)
| |
| 9 | g.78304743C= | CA1857665692 | PSAT1 | c.200C= (p.Pro67=)
| |
| 9 | g.78304743C>G | CA373871994 | PSAT1 | c.200C>G (p.Pro67Arg)
| |
| 9 | g.78304743C>T | CA5095562 | PSAT1 | c.200C>T (p.Pro67Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304744A>C | CA465542877 | PSAT1 | c.201A>C (p.Pro67=)
| |
| 9 | g.78304744A>G | CA465542878 | PSAT1 | c.201A>G (p.Pro67=)
| |
| 9 | g.78304744A>T | CA465542879 | PSAT1 | c.201A>T (p.Pro67=)
| |
| 9 | g.78304745G>A | CA373871997 | PSAT1 | c.202G>A (p.Asp68Asn)
| |
| 9 | g.78304745G>C | CA373871995 | PSAT1 | c.202G>C (p.Asp68His)
| |
| 9 | g.78304745G>T | CA373871996 | PSAT1 | c.202G>T (p.Asp68Tyr)
| |
| 9 | g.78304746A= | CA1857665693 | PSAT1 | c.203A= (p.Asp68=)
| |
| 9 | g.78304746A>C | CA373871998 | PSAT1 | c.203A>C (p.Asp68Ala)
| |
| 9 | g.78304746A>G | CA5095563 | PSAT1 | c.203A>G (p.Asp68Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304746A>T | CA373871999 | PSAT1 | c.203A>T (p.Asp68Val)
| |
| 9 | g.78304747C>A | CA373872000 | PSAT1 | c.204C>A (p.Asp68Glu)
| gnomAD v4 |
| 9 | g.78304747C>G | CA373872001 | PSAT1 | c.204C>G (p.Asp68Glu)
| |
| 9 | g.78304747C>T | CA465542883 | PSAT1 | c.204C>T (p.Asp68=)
| |
| 9 | g.78304748A>C | CA373872002 | PSAT1 | c.205A>C (p.Asn69His)
| |
| 9 | g.78304748A>G | CA373872003 | PSAT1 | c.205A>G (p.Asn69Asp)
| |
| 9 | g.78304748A>T | CA373872004 | PSAT1 | c.205A>T (p.Asn69Tyr)
| |
| 9 | g.78304749A>C | CA373872005 | PSAT1 | c.206A>C (p.Asn69Thr)
| |
| 9 | g.78304749A>G | CA373872006 | PSAT1 | c.206A>G (p.Asn69Ser)
| gnomAD v4 |
| 9 | g.78304749A>T | CA373872007 | PSAT1 | c.206A>T (p.Asn69Ile)
| |
| 9 | g.78304750C>A | CA373872008 | PSAT1 | c.207C>A (p.Asn69Lys)
| |
| 9 | g.78304750C>G | CA373872009 | PSAT1 | c.207C>G (p.Asn69Lys)
| |
| 9 | g.78304750C>T | CA465542885 | PSAT1 | c.207C>T (p.Asn69=)
| |
| 9 | g.78304751T>A | CA373872012 | PSAT1 | c.208T>A (p.Tyr70Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304751T>C | CA373872011 | PSAT1 | c.208T>C (p.Tyr70His)
| |
| 9 | g.78304751T>G | CA373872010 | PSAT1 | c.208T>G (p.Tyr70Asp)
| |
| 9 | g.78304751T= | CA1857665694 | PSAT1 | c.208T= (p.Tyr70=)
| |
| 9 | g.78304753_78304754del | CA2690397187 | PSAT1 | c.210_211del (p.Tyr70Ter)
| gnomAD v4 |
| 9 | g.78304752A= | CA1857665695 | PSAT1 | c.209A= (p.Tyr70=)
| |
| 9 | g.78304752A>C | CA5095564 | PSAT1 | c.209A>C (p.Tyr70Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304752A>G | CA194440925 | PSAT1 | c.209A>G (p.Tyr70Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304752A>T | CA373872013 | PSAT1 | c.209A>T (p.Tyr70Phe)
| |
| 9 | g.78304753T>A | CA373872014 | PSAT1 | c.210T>A (p.Tyr70Ter)
| |
| 9 | g.78304753T>C | CA465542898 | PSAT1 | c.210T>C (p.Tyr70=)
| dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78304753T>G | CA373872015 | PSAT1 | c.210T>G (p.Tyr70Ter)
| |
| 9 | g.78304753T= | CA1857665696 | PSAT1 | c.210T= (p.Tyr70=)
| |
| 9 | g.78304754A= | CA1857665697 | PSAT1 | c.211A= (p.Lys71=)
| |
| 9 | g.78304754A>C | CA373872016 | PSAT1 | c.211A>C (p.Lys71Gln)
| |
| 9 | g.78304754A>G | CA373872017 | PSAT1 | c.211A>G (p.Lys71Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304754A>T | CA373872018 | PSAT1 | c.211A>T (p.Lys71Ter)
| gnomAD v4 |
| 9 | g.78304755A>C | CA373872019 | PSAT1 | c.212A>C (p.Lys71Thr)
| |
| 9 | g.78304755A>G | CA373872020 | PSAT1 | c.212A>G (p.Lys71Arg)
| |
| 9 | g.78304755A>T | CA373872021 | PSAT1 | c.212A>T (p.Lys71Met)
| |
| 9 | g.78304756G>A | CA465542899 | PSAT1 | c.213G>A (p.Lys71=)
| gnomAD v4 |
| 9 | g.78304756G>C | CA373872022 | PSAT1 | c.213G>C (p.Lys71Asn)
| ClinVar dbSNP |
| 9 | g.78304756G= | CA1857665698 | PSAT1 | c.213G= (p.Lys71=)
| |
| 9 | g.78304756G>T | CA5095565 | PSAT1 | c.213G>T (p.Lys71Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304757G>A | CA373872025 | PSAT1 | c.214G>A (p.Val72Met)
| gnomAD v4 |
| 9 | g.78304757G>C | CA373872024 | PSAT1 | c.214G>C (p.Val72Leu)
| |
| 9 | g.78304757G>T | CA373872023 | PSAT1 | c.214G>T (p.Val72Leu)
| |
| 9 | g.78304758T>A | CA373872026 | PSAT1 | c.215T>A (p.Val72Glu)
| |
| 9 | g.78304758T>C | CA373872028 | PSAT1 | c.215T>C (p.Val72Ala)
| |
| 9 | g.78304758T>G | CA373872027 | PSAT1 | c.215T>G (p.Val72Gly)
| |
| 9 | g.78304759G>A | CA465542902 | PSAT1 | c.216G>A (p.Val72=)
| |
| 9 | g.78304759G>C | CA465542900 | PSAT1 | c.216G>C (p.Val72=)
| |
| 9 | g.78304759G>T | CA465542901 | PSAT1 | c.216G>T (p.Val72=)
| |
| 9 | g.78304760A>C | CA373872029 | PSAT1 | c.217A>C (p.Ile73Leu)
| |
| 9 | g.78304760A>G | CA373872030 | PSAT1 | c.217A>G (p.Ile73Val)
| |
| 9 | g.78304760A>T | CA373872031 | PSAT1 | c.217A>T (p.Ile73Phe)
| |
| 9 | g.78304761T>A | CA373872032 | PSAT1 | c.218T>A (p.Ile73Asn)
| |
| 9 | g.78304761T>C | CA373872033 | PSAT1 | c.218T>C (p.Ile73Thr)
| |
| 9 | g.78304761T>G | CA373872034 | PSAT1 | c.218T>G (p.Ile73Ser)
| |
| 9 | g.78304765dup | CA465542903 | PSAT1 | c.222dup (p.Leu75SerfsTer26)
| COSMIC |
| 9 | g.78304762T>A | CA465542905 | PSAT1 | c.219T>A (p.Ile73=)
| |
| 9 | g.78304762T>C | CA465542904 | PSAT1 | c.219T>C (p.Ile73=)
| |
| 9 | g.78304762T>G | CA373872035 | PSAT1 | c.219T>G (p.Ile73Met)
| |
| 9 | g.78304763T>A | CA373872036 | PSAT1 | c.220T>A (p.Phe74Ile)
| |
| 9 | g.78304763T>C | CA373872037 | PSAT1 | c.220T>C (p.Phe74Leu)
| |
| 9 | g.78304763T>G | CA373872038 | PSAT1 | c.220T>G (p.Phe74Val)
| |
| 9 | g.78304764T>A | CA373872039 | PSAT1 | c.221T>A (p.Phe74Tyr)
| |
| 9 | g.78304764T>C | CA373872040 | PSAT1 | c.221T>C (p.Phe74Ser)
| |
| 9 | g.78304764T>G | CA373872041 | PSAT1 | c.221T>G (p.Phe74Cys)
| |
| 9 | g.78304765T>A | CA373872042 | PSAT1 | c.222T>A (p.Phe74Leu)
| |
| 9 | g.78304765T>C | CA465542906 | PSAT1 | c.222T>C (p.Phe74=)
| |
| 9 | g.78304765T>G | CA373872043 | PSAT1 | c.222T>G (p.Phe74Leu)
| gnomAD v4 |
| 9 | g.78304766C>A | CA373872044 | PSAT1 | c.223C>A (p.Leu75Met)
| |
| 9 | g.78304766C>G | CA373872045 | PSAT1 | c.223C>G (p.Leu75Val)
| |
| 9 | g.78304766C>T | CA465542907 | PSAT1 | c.223C>T (p.Leu75=)
| gnomAD v4 |
| 9 | g.78304767T>A | CA373872047 | PSAT1 | c.224T>A (p.Leu75Gln)
| |
| 9 | g.78304767T>C | CA373872048 | PSAT1 | c.224T>C (p.Leu75Pro)
| |
| 9 | g.78304767T>G | CA373872050 | PSAT1 | c.224T>G (p.Leu75Arg)
| |
| 9 | g.78304768G>A | CA465542908 | PSAT1 | c.225G>A (p.Leu75=)
| |
| 9 | g.78304768G>C | CA465542909 | PSAT1 | c.225G>C (p.Leu75=)
| |
| 9 | g.78304768G= | CA1857665699 | PSAT1 | c.225G= (p.Leu75=)
| |
| 9 | g.78304768G>T | CA194440941 | PSAT1 | c.225G>T (p.Leu75=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304769C>A | CA373872052 | PSAT1 | c.226C>A (p.Gln76Lys)
| |
| 9 | g.78304769C= | CA1857665700 | PSAT1 | c.226C= (p.Gln76=)
| |
| 9 | g.78304769C>G | CA373872054 | PSAT1 | c.226C>G (p.Gln76Glu)
| |
| 9 | g.78304769C>T | CA373872055 | PSAT1 | c.226C>T (p.Gln76Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304770A>C | CA373872057 | PSAT1 | c.227A>C (p.Gln76Pro)
| |
| 9 | g.78304770A>G | CA373872059 | PSAT1 | c.227A>G (p.Gln76Arg)
| |
| 9 | g.78304770A>T | CA373872060 | PSAT1 | c.227A>T (p.Gln76Leu)
| |
| 9 | g.78304771del | CA2580080607 | PSAT1 | c.228del (p.Gly77GlufsTer12)
| ClinVar |
| 9 | g.78304771A>C | CA373872064 | PSAT1 | c.228A>C (p.Gln76His)
| |
| 9 | g.78304771A>G | CA465542912 | PSAT1 | c.228A>G (p.Gln76=)
| |
| 9 | g.78304771A>T | CA373872062 | PSAT1 | c.228A>T (p.Gln76His)
| |
| 9 | g.78304772G>A | CA373872065 | PSAT1 | c.229G>A (p.Gly77Arg)
| |
| 9 | g.78304772G>C | CA373872067 | PSAT1 | c.229G>C (p.Gly77Arg)
| |
| 9 | g.78304772G>T | CA373872068 | PSAT1 | c.229G>T (p.Gly77Ter)
| |
| 9 | g.78304773G>A | CA373872070 | PSAT1 | c.230G>A (p.Gly77Glu)
| gnomAD v4 |
| 9 | g.78304773G>C | CA373872071 | PSAT1 | c.230G>C (p.Gly77Ala)
| |
| 9 | g.78304773G>T | CA373872073 | PSAT1 | c.230G>T (p.Gly77Val)
| |
| 9 | g.78304774A= | CA1857665701 | PSAT1 | c.231A= (p.Gly77=)
| |
| 9 | g.78304774A>C | CA465542913 | PSAT1 | c.231A>C (p.Gly77=)
| |
| 9 | g.78304774A>G | CA465542914 | PSAT1 | c.231A>G (p.Gly77=)
| gnomAD v4 |
| 9 | g.78304774A>T | CA5095566 | PSAT1 | c.231A>T (p.Gly77=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304775G>A | CA373872075 | PSAT1 | c.232G>A (p.Gly78Ser)
| |
| 9 | g.78304775G>C | CA373872076 | PSAT1 | c.232G>C (p.Gly78Arg)
| |
| 9 | g.78304775G>T | CA373872078 | PSAT1 | c.232G>T (p.Gly78Cys)
| |
| 9 | g.78304776G>A | CA373872080 | PSAT1 | c.233G>A (p.Gly78Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304776G>C | CA373872081 | PSAT1 | c.233G>C (p.Gly78Ala)
| ClinVar dbSNP |
| 9 | g.78304776G= | CA1857665702 | PSAT1 | c.233G= (p.Gly78=)
| |
| 9 | g.78304776G>T | CA373872083 | PSAT1 | c.233G>T (p.Gly78Val)
| ClinVar dbSNP gnomAD v4 |
| 9 | g.78304777T>A | CA465542915 | PSAT1 | c.234T>A (p.Gly78=)
| |
| 9 | g.78304777T>C | CA465542916 | PSAT1 | c.234T>C (p.Gly78=)
| |
| 9 | g.78304777T>G | CA465542917 | PSAT1 | c.234T>G (p.Gly78=)
| |
| 9 | g.78304778G>A | CA373872088 | PSAT1 | c.235G>A (p.Gly79Arg)
| ClinVar dbSNP |
| 9 | g.78304778G>C | CA373872087 | PSAT1 | c.235G>C (p.Gly79Arg)
| |
| 9 | g.78304778G= | CA1857665703 | PSAT1 | c.235G= (p.Gly79=)
| |
| 9 | g.78304778G>T | CA373872086 | PSAT1 | c.235G>T (p.Gly79Trp)
| |
| 9 | g.78304779G>A | CA373872090 | PSAT1 | c.236G>A (p.Gly79Glu)
| |
| 9 | g.78304779G>C | CA373872092 | PSAT1 | c.236G>C (p.Gly79Ala)
| |
| 9 | g.78304779G>T | CA373872095 | PSAT1 | c.236G>T (p.Gly79Val)
| gnomAD v4 |
| 9 | g.78304780G>A | CA5095567 | PSAT1 | c.237G>A (p.Gly79=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304780G>C | CA465542918 | PSAT1 | c.237G>C (p.Gly79=)
| |
| 9 | g.78304780G= | CA1857665704 | PSAT1 | c.237G= (p.Gly79=)
| |
| 9 | g.78304780G>T | CA465542919 | PSAT1 | c.237G>T (p.Gly79=)
| |
| 9 | g.78304781T>A | CA373872098 | PSAT1 | c.238T>A (p.Cys80Ser)
| |
| 9 | g.78304781T>C | CA373872100 | PSAT1 | c.238T>C (p.Cys80Arg)
| |
| 9 | g.78304781T>G | CA373872101 | PSAT1 | c.238T>G (p.Cys80Gly)
| |
| 9 | g.78304782G>A | CA373872103 | PSAT1 | c.239G>A (p.Cys80Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.78304782G>C | CA373872107 | PSAT1 | c.239G>C (p.Cys80Ser)
| |
| 9 | g.78304782G= | CA1857665705 | PSAT1 | c.239G= (p.Cys80=)
| |
| 9 | g.78304782G>T | CA373872108 | PSAT1 | c.239G>T (p.Cys80Phe)
| |
| 9 | g.78304783C>A | CA373872109 | PSAT1 | c.240C>A (p.Cys80Ter)
| |
| 9 | g.78304783C= | CA1857665706 | PSAT1 | c.240C= (p.Cys80=)
| |
| 9 | g.78304783C>G | CA373872110 | PSAT1 | c.240C>G (p.Cys80Trp)
| |
| 9 | g.78304783C>T | CA5095568 | PSAT1 | c.240C>T (p.Cys80=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304784G>A | CA5095569 | PSAT1 | c.241G>A (p.Gly81Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.78304784G>C | CA373872114 | PSAT1 | c.241G>C (p.Gly81Arg)
| dbSNP gnomAD v4 |
| 9 | g.78304784G= | CA1857665707 | PSAT1 | c.241G= (p.Gly81=)
| |
| 9 | g.78304784G>T | CA373872113 | PSAT1 | c.241G>T (p.Gly81Cys)
| |
| 9 | g.78304785G>A | CA373872116 | PSAT1 | c.242G>A (p.Gly81Asp)
| |
| 9 | g.78304785G>C | CA373872119 | PSAT1 | c.242G>C (p.Gly81Ala)
| |
| 9 | g.78304785G>T | CA373872118 | PSAT1 | c.242G>T (p.Gly81Val)
| |
| 9 | g.78304786C>A | CA465542920 | PSAT1 | c.243C>A (p.Gly81=)
| |
| 9 | g.78304786C>G | CA465542921 | PSAT1 | c.243C>G (p.Gly81=)
| |
| 9 | g.78304786C>T | CA465542922 | PSAT1 | c.243C>T (p.Gly81=)
| |
| 9 | g.78304787C>A | CA373872121 | PSAT1 | c.244C>A (p.Gln82Lys)
| |
| 9 | g.78304787C>G | CA373872124 | PSAT1 | c.244C>G (p.Gln82Glu)
| |
| 9 | g.78304787C>T | CA373872123 | PSAT1 | c.244C>T (p.Gln82Ter)
| |
| 9 | g.78304791_78304795dup | CA2690397188 | PSAT1 | c.248_252dup (p.Ala85SerfsTer6)
| gnomAD v4 |
