9 | g.78300651T>A | CA373871577 | PSAT1 | c.110T>A (p.Ile37Asn)
| |
9 | g.78300651T>C | CA373871578 | PSAT1 | c.110T>C (p.Ile37Thr)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300651T>G | CA373871579 | PSAT1 | c.110T>G (p.Ile37Ser)
| |
9 | g.78300651T= | CA1857663828 | PSAT1 | c.110T= (p.Ile37=)
| |
9 | g.78300652T>A | CA465542749 | PSAT1 | c.111T>A (p.Ile37=)
| |
9 | g.78300652T>C | CA465542750 | PSAT1 | c.111T>C (p.Ile37=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300652T>G | CA373871580 | PSAT1 | c.111T>G (p.Ile37Met)
| |
9 | g.78300652T= | CA1857663829 | PSAT1 | c.111T= (p.Ile37=)
| |
9 | g.78300653A>C | CA373871582 | PSAT1 | c.112A>C (p.Ser38Arg)
| |
9 | g.78300653A>G | CA373871584 | PSAT1 | c.112A>G (p.Ser38Gly)
| |
9 | g.78300653A>T | CA373871585 | PSAT1 | c.112A>T (p.Ser38Cys)
| |
9 | g.78300654G>A | CA373871587 | PSAT1 | c.113G>A (p.Ser38Asn)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300654G>C | CA373871588 | PSAT1 | c.113G>C (p.Ser38Thr)
| |
9 | g.78300654G= | CA1857663830 | PSAT1 | c.113G= (p.Ser38=)
| |
9 | g.78300654G>T | CA373871589 | PSAT1 | c.113G>T (p.Ser38Ile)
| gnomAD v4 |
9 | g.78300654_78300655insCTG | CA2690396786 | PSAT1 | c.113_114insCTG (p.Ser38_Val39insCys)
| gnomAD v4 |
9 | g.78300655T>A | CA373871596 | PSAT1 | c.114T>A (p.Ser38Arg)
| dbSNP gnomAD v2 |
9 | g.78300655T>C | CA465542751 | PSAT1 | c.114T>C (p.Ser38=)
| |
9 | g.78300655T>G | CA373871591 | PSAT1 | c.114T>G (p.Ser38Arg)
| |
9 | g.78300655T= | CA1857663831 | PSAT1 | c.114T= (p.Ser38=)
| |
9 | g.78300656G>A | CA373871598 | PSAT1 | c.115G>A (p.Val39Ile)
| |
9 | g.78300656G>C | CA373871600 | PSAT1 | c.115G>C (p.Val39Leu)
| |
9 | g.78300656G>T | CA373871609 | PSAT1 | c.115G>T (p.Val39Phe)
| gnomAD v4 |
9 | g.78300657T>A | CA373871611 | PSAT1 | c.116T>A (p.Val39Asp)
| |
9 | g.78300657T>C | CA373871612 | PSAT1 | c.116T>C (p.Val39Ala)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300657T>G | CA373871613 | PSAT1 | c.116T>G (p.Val39Gly)
| |
9 | g.78300657T= | CA1857663832 | PSAT1 | c.116T= (p.Val39=)
| |
9 | g.78300658T>A | CA465542752 | PSAT1 | c.117T>A (p.Val39=)
| |
9 | g.78300658T>C | CA465542753 | PSAT1 | c.117T>C (p.Val39=)
| |
9 | g.78300658T>G | CA465542754 | PSAT1 | c.117T>G (p.Val39=)
| |
9 | g.78300659C>A | CA373871614 | PSAT1 | c.118C>A (p.Leu40Ile)
| |
9 | g.78300659C>G | CA373871615 | PSAT1 | c.118C>G (p.Leu40Val)
| ClinVar dbSNP gnomAD v4 |
9 | g.78300659C>T | CA373871616 | PSAT1 | c.118C>T (p.Leu40Phe)
| dbSNP gnomAD v4 |
9 | g.78300660T>A | CA373871617 | PSAT1 | c.119T>A (p.Leu40His)
| |
9 | g.78300660T>C | CA373871618 | PSAT1 | c.119T>C (p.Leu40Pro)
| gnomAD v4 |
9 | g.78300660T>G | CA373871619 | PSAT1 | c.119T>G (p.Leu40Arg)
| |
9 | g.78300661T>A | CA465542755 | PSAT1 | c.120T>A (p.Leu40=)
| |
9 | g.78300661T>C | CA465542756 | PSAT1 | c.120T>C (p.Leu40=)
| |
9 | g.78300661T>G | CA465542757 | PSAT1 | c.120T>G (p.Leu40=)
| |
9 | g.78300662G>A | CA373871622 | PSAT1 | c.121G>A (p.Glu41Lys)
| |
9 | g.78300662G>C | CA373871621 | PSAT1 | c.121G>C (p.Glu41Gln)
| |
9 | g.78300662G>T | CA373871620 | PSAT1 | c.121G>T (p.Glu41Ter)
| |
9 | g.78300663G>A | CA373871623 | PSAT1 | c.121+1G>A (n.121+1G>A)
| gnomAD v4 |
9 | g.78300663G>C | CA373871624 | PSAT1 | c.121+1G>C (n.121+1G>C)
| |
9 | g.78300663G>T | CA373871626 | PSAT1 | c.121+1G>T (n.121+1G>T)
| |
9 | g.78300664T>A | CA373871627 | PSAT1 | c.121+2T>A (n.121+2T>A)
| |
9 | g.78300664T>C | CA373871628 | PSAT1 | c.121+2T>C (n.121+2T>C)
| |
9 | g.78300664T>G | CA373871630 | PSAT1 | c.121+2T>G (n.121+2T>G)
| |
9 | g.78300665_78300676dup | CA2784747443 | PSAT1 | c.121+3_121+14dup (n.121+3_121+14dup)
| |
9 | g.78300665A= | CA1857663833 | PSAT1 | c.121+3A= (n.121+3A=)
| |
9 | g.78300665A>G | CA867183472 | PSAT1 | c.121+3A>G (n.121+3A>G)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300666A>G | CA2690396787 | PSAT1 | c.121+4A>G (n.121+4A>G)
| gnomAD v4 |
9 | g.78300667G>A | CA588662309 | PSAT1 | c.121+5G>A (n.121+5G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.78300667G>C | CA5095506 | PSAT1 | c.121+5G>C (n.121+5G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300667G= | CA1857663834 | PSAT1 | c.121+5G= (n.121+5G=)
| |
9 | g.78300667G>T | CA2598490385 | PSAT1 | c.121+5G>T (n.121+5G>T)
| gnomAD v3 gnomAD v4 |
9 | g.78300668A>G | CA2690396788 | PSAT1 | c.121+6A>G (n.121+6A>G)
| gnomAD v4 |
9 | g.78300668A>T | CA1125766826 | PSAT1 | c.121+6A>T (n.121+6A>T)
| gnomAD v3 gnomAD v4 |
9 | g.78300671T>C | CA2579362165 | PSAT1 | c.121+9T>C (n.121+9T>C)
| |
9 | g.78300672A>G | CA913160770 | PSAT1 | c.121+10A>G (n.121+10A>G)
| |
9 | g.78300672A>T | CA1125766829 | PSAT1 | c.121+10A>T (n.121+10A>T)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300673del | CA2598490387 | PSAT1 | c.121+11del (n.121+11del)
| gnomAD v3 gnomAD v4 |
9 | g.78300673C>A | CA2690396789 | PSAT1 | c.121+11C>A (n.121+11C>A)
| gnomAD v4 |
9 | g.78300673C= | CA1857663835 | PSAT1 | c.121+11C= (n.121+11C=)
| |
9 | g.78300673C>G | CA2690396790 | PSAT1 | c.121+11C>G (n.121+11C>G)
| gnomAD v4 |
9 | g.78300673C>T | CA1125766835 | PSAT1 | c.121+11C>T (n.121+11C>T)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300677T>G | CA2690396791 | PSAT1 | c.121+15T>G (n.121+15T>G)
| gnomAD v4 |
9 | g.78300678G>A | CA5095507 | PSAT1 | c.121+16G>A (n.121+16G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300678G= | CA1857663836 | PSAT1 | c.121+16G= (n.121+16G=)
| |
9 | g.78300678G>T | CA1125766841 | PSAT1 | c.121+16G>T (n.121+16G>T)
| gnomAD v3 gnomAD v4 |
9 | g.78300679A>C | CA2690396792 | PSAT1 | c.121+17A>C (n.121+17A>C)
| gnomAD v4 |
9 | g.78300679A>T | CA2690396793 | PSAT1 | c.121+17A>T (n.121+17A>T)
| gnomAD v4 |
9 | g.78300680A>G | CA2690396794 | PSAT1 | c.121+18A>G (n.121+18A>G)
| gnomAD v4 |
9 | g.78300683C>A | CA2690396795 | PSAT1 | c.121+21C>A (n.121+21C>A)
| gnomAD v4 |
9 | g.78300683C>T | CA1125766843 | PSAT1 | c.121+21C>T (n.121+21C>T)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300684T>C | CA2690396796 | PSAT1 | c.121+22T>C (n.121+22T>C)
| gnomAD v4 |
9 | g.78300685G>T | CA2690396797 | PSAT1 | c.121+23G>T (n.121+23G>T)
| gnomAD v4 |
9 | g.78300687G>C | CA2690396798 | PSAT1 | c.121+25G>C (n.121+25G>C)
| gnomAD v4 |
9 | g.78300687G>T | CA1125766845 | PSAT1 | c.121+25G>T (n.121+25G>T)
| gnomAD v3 gnomAD v4 |
9 | g.78300688A>C | CA2690396799 | PSAT1 | c.121+26A>C (n.121+26A>C)
| gnomAD v4 |
9 | g.78300688A>G | CA2690396800 | PSAT1 | c.121+26A>G (n.121+26A>G)
| gnomAD v4 |
9 | g.78300689A>G | CA2690396801 | PSAT1 | c.121+27A>G (n.121+27A>G)
| gnomAD v4 |
9 | g.78300690T>C | CA5095508 | PSAT1 | c.121+28T>C (n.121+28T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.78300690T= | CA1857663837 | PSAT1 | c.121+28T= (n.121+28T=)
| |
9 | g.78300691G>C | CA1857663839 | PSAT1 | c.121+29G>C (n.121+29G>C)
| dbSNP gnomAD v4 |
9 | g.78300691G= | CA1857663838 | PSAT1 | c.121+29G= (n.121+29G=)
| |
9 | g.78300691G>T | CA1125766846 | PSAT1 | c.121+29G>T (n.121+29G>T)
| gnomAD v3 gnomAD v4 |
9 | g.78300692T>C | CA2690396802 | PSAT1 | c.121+30T>C (n.121+30T>C)
| gnomAD v4 |
9 | g.78300693C>A | CA2690396803 | PSAT1 | c.121+31C>A (n.121+31C>A)
| gnomAD v4 |
9 | g.78300693C= | CA1857663840 | PSAT1 | c.121+31C= (n.121+31C=)
| |
9 | g.78300693C>T | CA1857663841 | PSAT1 | c.121+31C>T (n.121+31C>T)
| dbSNP gnomAD v4 |
9 | g.78300694C>A | CA2690396804 | PSAT1 | c.121+32C>A (n.121+32C>A)
| gnomAD v4 |
9 | g.78300694C= | CA1857663842 | PSAT1 | c.121+32C= (n.121+32C=)
| |
9 | g.78300694C>T | CA5095509 | PSAT1 | c.121+32C>T (n.121+32C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300695A= | CA1857663843 | PSAT1 | c.121+33A= (n.121+33A=)
| |
9 | g.78300695A>C | CA2690396805 | PSAT1 | c.121+33A>C (n.121+33A>C)
| gnomAD v4 |
9 | g.78300695A>G | CA5095510 | PSAT1 | c.121+33A>G (n.121+33A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300695A>T | CA2598490390 | PSAT1 | c.121+33A>T (n.121+33A>T)
| gnomAD v3 gnomAD v4 |
9 | g.78300696T>C | CA2690396806 | PSAT1 | c.121+34T>C (n.121+34T>C)
| gnomAD v4 |
9 | g.78300697G>A | CA1857663845 | PSAT1 | c.121+35G>A (n.121+35G>A)
| dbSNP |
9 | g.78300697G= | CA1857663844 | PSAT1 | c.121+35G= (n.121+35G=)
| |
9 | g.78300697G>T | CA588662315 | PSAT1 | c.121+35G>T (n.121+35G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300698_78300705dup | CA2690396807 | PSAT1 | c.121+36_121+43dup (n.121+36_121+43dup)
| gnomAD v4 |
9 | g.78300698T>A | CA5095511 | PSAT1 | c.121+36T>A (n.121+36T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300698T>C | CA1857663847 | PSAT1 | c.121+36T>C (n.121+36T>C)
| dbSNP |
9 | g.78300698T= | CA1857663846 | PSAT1 | c.121+36T= (n.121+36T=)
| |
9 | g.78300700T>A | CA194437689 | PSAT1 | c.121+38T>A (n.121+38T>A)
| dbSNP |
9 | g.78300700T>C | CA2690396808 | PSAT1 | c.121+38T>C (n.121+38T>C)
| gnomAD v4 |
9 | g.78300700T= | CA1857663848 | PSAT1 | c.121+38T= (n.121+38T=)
| |
9 | g.78300701C>A | CA1125766853 | PSAT1 | c.121+39C>A (n.121+39C>A)
| gnomAD v3 gnomAD v4 |
9 | g.78300701C= | CA1857663849 | PSAT1 | c.121+39C= (n.121+39C=)
| |
9 | g.78300701C>G | CA1125766854 | PSAT1 | c.121+39C>G (n.121+39C>G)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300701C>T | CA867183482 | PSAT1 | c.121+39C>T (n.121+39C>T)
| dbSNP gnomAD v4 |
9 | g.78300702A= | CA1857663850 | PSAT1 | c.121+40A= (n.121+40A=)
| |
9 | g.78300702A>C | CA588662317 | PSAT1 | c.121+40A>C (n.121+40A>C)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.78300702A>G | CA2690396809 | PSAT1 | c.121+40A>G (n.121+40A>G)
| gnomAD v4 |
9 | g.78300703A>T | CA2564380829 | PSAT1 | c.121+41A>T (n.121+41A>T)
| |
9 | g.78300704A>T | CA2690396810 | PSAT1 | c.121+42A>T (n.121+42A>T)
| gnomAD v4 |
9 | g.78300705G>A | CA2690396811 | PSAT1 | c.121+43G>A (n.121+43G>A)
| gnomAD v4 |
9 | g.78300705G>T | CA2690396812 | PSAT1 | c.121+43G>T (n.121+43G>T)
| gnomAD v4 |
9 | g.78300706G>A | CA2690396813 | PSAT1 | c.121+44G>A (n.121+44G>A)
| gnomAD v4 |
9 | g.78300706G>T | CA2516505625 | PSAT1 | c.121+44G>T (n.121+44G>T)
| gnomAD v4 |
9 | g.78300707A>C | CA2690396814 | PSAT1 | c.121+45A>C (n.121+45A>C)
| gnomAD v4 |
9 | g.78300707A>G | CA2690396815 | PSAT1 | c.121+45A>G (n.121+45A>G)
| gnomAD v4 |
9 | g.78300707A>T | CA2690396816 | PSAT1 | c.121+45A>T (n.121+45A>T)
| gnomAD v4 |
9 | g.78300708A>C | CA2690396819 | PSAT1 | c.121+46A>C (n.121+46A>C)
| gnomAD v4 |
9 | g.78300708A>G | CA1125766855 | PSAT1 | c.121+46A>G (n.121+46A>G)
| gnomAD v3 gnomAD v4 |
9 | g.78300708A>T | CA2690396818 | PSAT1 | c.121+46A>T (n.121+46A>T)
| gnomAD v4 |
9 | g.78300708_78300709delinsAG | CA1857663851 | PSAT1 | c.121+46_121+47delinsAG (n.121+46_121+47delinsAG)
| |
9 | g.78300708_78300710del | CA2690396817 | PSAT1 | c.121+46_121+48del (n.121+46_121+48del)
| gnomAD v4 |
9 | g.78300709del | CA5095512 | PSAT1 | c.121+47del (n.121+47del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300709G>A | CA5095513 | PSAT1 | c.121+47G>A (n.121+47G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300709G>C | CA2579362166 | PSAT1 | c.121+47G>C (n.121+47G>C)
| gnomAD v4 |
9 | g.78300709G= | CA1857663852 | PSAT1 | c.121+47G= (n.121+47G=)
| |
9 | g.78300709G>T | CA1125766859 | PSAT1 | c.121+47G>T (n.121+47G>T)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300709dup | CA2690396820 | PSAT1 | c.121+47dup (n.121+47dup)
| gnomAD v4 |
9 | g.78300709_78300710del | CA2579362167 | PSAT1 | c.121+47_121+48del (n.121+47_121+48del)
| gnomAD v4 |
9 | g.78300709_78300710delinsGC | CA1857663853 | PSAT1 | c.121+47_121+48delinsGC (n.121+47_121+48delinsGC)
| |
9 | g.78300709_78300711del | CA2690396821 | PSAT1 | c.121+47_121+49del (n.121+47_121+49del)
| gnomAD v4 |
9 | g.78300709_78300710insA | CA1125766865 | PSAT1 | c.121+47_121+48insA (n.121+47_121+48insA)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300709_78300710insT | CA588662320 | PSAT1 | c.121+47_121+48insT (n.121+47_121+48insT)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300709_78300710insAT | CA2690396828 | PSAT1 | c.121+47_121+48insAT (n.121+47_121+48insAT)
| gnomAD v4 |
9 | g.78300709_78300710insGT | CA2690396823 | PSAT1 | c.121+47_121+48insGT (n.121+47_121+48insGT)
| gnomAD v4 |
9 | g.78300709_78300710insTT | CA588662322 | PSAT1 | c.121+47_121+48insTT (n.121+47_121+48insTT)
| gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300709_78300710insATT | CA2784747455 | PSAT1 | c.121+47_121+48insATT (n.121+47_121+48insATT)
| |
9 | g.78300709_78300710insGGT | CA2842873053 | PSAT1 | c.121+47_121+48insGGT (n.121+47_121+48insGGT)
| |
9 | g.78300709_78300710insTTT | CA1125766868 | PSAT1 | c.121+47_121+48insTTT (n.121+47_121+48insTTT)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300709_78300710insATTT | CA2784747461 | PSAT1 | c.121+47_121+48insATTT (n.121+47_121+48insATTT)
| |
9 | g.78300709_78300710insTTTT | CA1125766866 | PSAT1 | c.121+47_121+48insTTTT (n.121+47_121+48insTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300709_78300710insTTTTT | CA2784747459 | PSAT1 | c.121+47_121+48insTTTTT (n.121+47_121+48insTTTTT)
| |
9 | g.78300710del | CA5095514 | PSAT1 | c.121+48del (n.121+48del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.78300710C>A | CA867183487 | PSAT1 | c.121+48C>A (n.121+48C>A)
| dbSNP gnomAD v4 |
9 | g.78300710C= | CA1857663855 | PSAT1 | c.121+48C= (n.121+48C=)
| |
9 | g.78300710C>G | CA2690396822 | PSAT1 | c.121+48C>G (n.121+48C>G)
| gnomAD v4 |
9 | g.78300710C>T | CA194437728 | PSAT1 | c.121+48C>T (n.121+48C>T)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300710dup | CA2579362169 | PSAT1 | c.121+48dup (n.121+48dup)
| |
9 | g.78300710_78300711del | CA2579362168 | PSAT1 | c.121+48_121+49del (n.121+48_121+49del)
| gnomAD v4 |
9 | g.78300710_78300711dup | CA2784747460 | PSAT1 | c.121+48_121+49dup (n.121+48_121+49dup)
| |
9 | g.78300710_78300712del | CA2690396826 | PSAT1 | c.121+48_121+50del (n.121+48_121+50del)
| gnomAD v4 |
9 | g.78300710_78300712dup | CA2690396827 | PSAT1 | c.121+48_121+50dup (n.121+48_121+50dup)
| gnomAD v4 |
9 | g.78300710_78300713del | CA2690396825 | PSAT1 | c.121+48_121+51del (n.121+48_121+51del)
| gnomAD v4 |
9 | g.78300710_78300714del | CA2690396824 | PSAT1 | c.121+48_121+52del (n.121+48_121+52del)
| gnomAD v4 |
9 | g.78300710_78300725delinsCTTTTTTTTTTTTTTT | CA1857663854 | PSAT1 | c.121+48_121+63delinsCTTTTTTTTTTTTTTT (n.121+48_121+63delinsCTTTTTTTTTTTTTTT)
| |
9 | g.78300710_78300711insA | CA2690396833 | PSAT1 | c.121+48_121+49insA (n.121+48_121+49insA)
| gnomAD v4 |
9 | g.78300710_78300711insG | CA1125766976 | PSAT1 | c.121+48_121+49insG (n.121+48_121+49insG)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300710_78300711insGT | CA2690396831 | PSAT1 | c.121+48_121+49insGT (n.121+48_121+49insGT)
| gnomAD v4 |
9 | g.78300710_78300711insCTT | CA2690396830 | PSAT1 | c.121+48_121+49insCTT (n.121+48_121+49insCTT)
| gnomAD v4 |
9 | g.78300710_78300711insGTT | CA2690396832 | PSAT1 | c.121+48_121+49insGTT (n.121+48_121+49insGTT)
| gnomAD v4 |
9 | g.78300711T>A | CA2690396829 | PSAT1 | c.121+49T>A (n.121+49T>A)
| gnomAD v4 |
9 | g.78300711T>C | CA2525982175 | PSAT1 | c.121+49T>C (n.121+49T>C)
| gnomAD v4 |
9 | g.78300711T>G | CA1857663857 | PSAT1 | c.121+49T>G (n.121+49T>G)
| dbSNP gnomAD v4 |
9 | g.78300711T= | CA1857663856 | PSAT1 | c.121+49T= (n.121+49T=)
| |
9 | g.78300732_78300733insTTTTTTTTTTTTTTTTTTTTTTT | CA1125767036 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTTTTTTTTTTTTTTTTT | CA2690396835 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125767017 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTGTTTTTTTTTTTTTTTTTTTTTTT | CA1125767015 | PSAT1 | c.121+70_121+71insTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTGTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTGTTTTTTTTTTTTTTTTTTTTTTT | CA1125766973 | PSAT1 | c.121+70_121+71insTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTGTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766932 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTATATTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125767025 | PSAT1 | c.121+70_121+71insTATATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTATATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125767012 | PSAT1 | c.121+70_121+71insTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2784747463 | PSAT1 | c.121+70_121+71insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| |
9 | g.78300732_78300733insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766922 | PSAT1 | c.121+70_121+71insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766916 | PSAT1 | c.121+70_121+71insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766924 | PSAT1 | c.121+70_121+71insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2784747462 | PSAT1 | c.121+70_121+71insTTTTGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| |
9 | g.78300732_78300733insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766925 | PSAT1 | c.121+70_121+71insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766931 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766934 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766937 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTTTTTAATGATGTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766928 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTAATGATGTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTAATGATGTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766944 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766929 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTGTTTTTTTTTGAATTGTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125767006 | PSAT1 | c.121+70_121+71insTTTTGTTTTTTTTTGAATTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTGTTTTTTTTTGAATTGTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| |
9 | g.78300732_78300733insTTTATTTTTTTTTTTAAAAGTAATTTTTTTTTTTTTTTTTTTTTTTT | CA1125767024 | PSAT1 | c.121+70_121+71insTTTATTTTTTTTTTTAAAAGTAATTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTATTTTTTTTTTTAAAAGTAATTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2784747464 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| |
9 | g.78300732_78300733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766948 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTGTTTTTTTTTATTTTTAATATAAATTTTTTTTTTTTTTTTTTTTTTTTT | CA1125767027 | PSAT1 | c.121+70_121+71insTTGTTTTTTTTTATTTTTAATATAAATTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTGTTTTTTTTTATTTTTAATATAAATTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTGTTTTTTTTTTTGTTTAAAAAGAATTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766971 | PSAT1 | c.121+70_121+71insTTTTGTTTTTTTTTTTGTTTAAAAAGAATTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTGTTTTTTTTTTTGTTTAAAAAGAATTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTGATTTTAAATATTAAAAAGGATTTTTTTTTTTTTTTTTTTTTTTTTT | CA2690396834 | PSAT1 | c.121+70_121+71insTTTTTTTTTGATTTTAAATATTAAAAAGGATTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTGATTTTAAATATTAAAAAGGATTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v4 |
9 | g.78300732_78300733insTTGTTTTTTTTTTTTGTATTTTTTTTAATGTATTTTTTTTTTTTTTTTTTTTTTTTTT | CA2784747465 | PSAT1 | c.121+70_121+71insTTGTTTTTTTTTTTTGTATTTTTTTTAATGTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTGTTTTTTTTTTTTGTATTTTTTTTAATGTATTTTTTTTTTTTTTTTTTTTTTTTTT)
| |
9 | g.78300732_78300733insTTTTTTTTGTTTGTTTGTATATTTTTAAAAGGATGTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766923 | PSAT1 | c.121+70_121+71insTTTTTTTTGTTTGTTTGTATATTTTTAAAAGGATGTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTGTTTGTTTGTATATTTTTAAAAGGATGTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTTTTTTTTTTTGGTATTTGTCTTTTTTTATAGTGATTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766942 | PSAT1 | c.121+70_121+71insTTTTTTTTTTTTTTTTTTTGGTATTTGTCTTTTTTTATAGTGATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTTTTTTTTTTTGGTATTTGTCTTTTTTTATAGTGATTTTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTTTTTTGTTTTTTTTTTTTTTAAATTTTTTAAATATACTTGTTTCAAAGGAAGTTTTTTTTTTTTTTTTTTTTTTTT | CA1125766926 | PSAT1 | c.121+70_121+71insTTTTTTTTTGTTTTTTTTTTTTTTAAATTTTTTAAATATACTTGTTTCAAAGGAAGTTTTTTTTTTTTTTTTTTTTTTTT (n.121+70_121+71insTTTTTTTTTGTTTTTTTTTTTTTTAAATTTTTTAAATATACTTGTTTCAAAGGAAGTTTTTTTTTTTTTTTTTTTTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732dup | CA5095515 | PSAT1 | c.121+70dup (n.121+70dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300731_78300732dup | CA5095519 | PSAT1 | c.121+69_121+70dup (n.121+69_121+70dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300730_78300732dup | CA5095520 | PSAT1 | c.121+68_121+70dup (n.121+68_121+70dup)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
9 | g.78300729_78300732dup | CA867183538 | PSAT1 | c.121+67_121+70dup (n.121+67_121+70dup)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300728_78300732dup | CA1125766989 | PSAT1 | c.121+66_121+70dup (n.121+66_121+70dup)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300727_78300732dup | CA1125766990 | PSAT1 | c.121+65_121+70dup (n.121+65_121+70dup)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300726_78300732dup | CA1125766991 | PSAT1 | c.121+64_121+70dup (n.121+64_121+70dup)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300725_78300732dup | CA1125766992 | PSAT1 | c.121+63_121+70dup (n.121+63_121+70dup)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300724_78300732dup | CA1125766993 | PSAT1 | c.121+62_121+70dup (n.121+62_121+70dup)
| gnomAD v3 gnomAD v4 |
9 | g.78300723_78300732dup | CA1125766995 | PSAT1 | c.121+61_121+70dup (n.121+61_121+70dup)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300722_78300732dup | CA1125766996 | PSAT1 | c.121+60_121+70dup (n.121+60_121+70dup)
| gnomAD v3 gnomAD v4 |
9 | g.78300721_78300732dup | CA1125767001 | PSAT1 | c.121+59_121+70dup (n.121+59_121+70dup)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300718_78300732dup | CA1125766997 | PSAT1 | c.121+56_121+70dup (n.121+56_121+70dup)
| gnomAD v3 gnomAD v4 |
9 | g.78300716_78300732dup | CA1125767033 | PSAT1 | c.121+54_121+70dup (n.121+54_121+70dup)
| gnomAD v3 gnomAD v4 |
9 | g.78300715_78300732dup | CA1125767035 | PSAT1 | c.121+53_121+70dup (n.121+53_121+70dup)
| gnomAD v3 gnomAD v4 |
9 | g.78300714_78300732dup | CA1125767039 | PSAT1 | c.121+52_121+70dup (n.121+52_121+70dup)
| gnomAD v3 gnomAD v4 |
9 | g.78300732del | CA5095517 | PSAT1 | c.121+70del (n.121+70del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300731_78300732del | CA5095516 | PSAT1 | c.121+69_121+70del (n.121+69_121+70del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300730_78300732del | CA5095518 | PSAT1 | c.121+68_121+70del (n.121+68_121+70del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300729_78300732del | CA588662323 | PSAT1 | c.121+67_121+70del (n.121+67_121+70del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300728_78300732del | CA2515847229 | PSAT1 | c.121+66_121+70del (n.121+66_121+70del)
| gnomAD v4 |
9 | g.78300727_78300732del | CA867183530 | PSAT1 | c.121+65_121+70del (n.121+65_121+70del)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300726_78300732del | CA1125766958 | PSAT1 | c.121+64_121+70del (n.121+64_121+70del)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300725_78300732del | CA1125766961 | PSAT1 | c.121+63_121+70del (n.121+63_121+70del)
| gnomAD v3 gnomAD v4 |
9 | g.78300724_78300732del | CA2507151107 | PSAT1 | c.121+62_121+70del (n.121+62_121+70del)
| gnomAD v3 gnomAD v4 |
9 | g.78300723_78300732del | CA867183529 | PSAT1 | c.121+61_121+70del (n.121+61_121+70del)
| dbSNP gnomAD v4 |
9 | g.78300722_78300732del | CA1125766962 | PSAT1 | c.121+60_121+70del (n.121+60_121+70del)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300721_78300732del | CA1857663858 | PSAT1 | c.121+59_121+70del (n.121+59_121+70del)
| dbSNP gnomAD v4 |
9 | g.78300720_78300732del | CA867183527 | PSAT1 | c.121+58_121+70del (n.121+58_121+70del)
| dbSNP gnomAD v4 |
9 | g.78300719_78300732del | CA867183526 | PSAT1 | c.121+57_121+70del (n.121+57_121+70del)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300718_78300732del | CA1125766969 | PSAT1 | c.121+56_121+70del (n.121+56_121+70del)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300711_78300712insC | CA2566934006 | PSAT1 | c.121+49_121+50insC (n.121+49_121+50insC)
| |
9 | g.78300711_78300712insG | CA2784747466 | PSAT1 | c.121+49_121+50insG (n.121+49_121+50insG)
| |
9 | g.78300712T>A | CA2690396837 | PSAT1 | c.121+50T>A (n.121+50T>A)
| gnomAD v4 |
9 | g.78300712T>C | CA2542633106 | PSAT1 | c.121+50T>C (n.121+50T>C)
| gnomAD v4 |
9 | g.78300712T>G | CA2690396836 | PSAT1 | c.121+50T>G (n.121+50T>G)
| gnomAD v4 |
9 | g.78300712_78300713insCT | CA588662328 | PSAT1 | c.121+50_121+51insCT (n.121+50_121+51insCT)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.78300712_78300713insC | CA2690396838 | PSAT1 | c.121+50_121+51insC (n.121+50_121+51insC)
| gnomAD v4 |
9 | g.78300713T>A | CA2690396839 | PSAT1 | c.121+51T>A (n.121+51T>A)
| gnomAD v4 |
9 | g.78300713T>C | CA588662330 | PSAT1 | c.121+51T>C (n.121+51T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300713T= | CA1857663859 | PSAT1 | c.121+51T= (n.121+51T=)
| |
9 | g.78300714T>C | CA2690396840 | PSAT1 | c.121+52T>C (n.121+52T>C)
| gnomAD v4 |
9 | g.78300714T>G | CA2741027961 | PSAT1 | c.121+52T>G (n.121+52T>G)
| |
9 | g.78300715T>C | CA2690396841 | PSAT1 | c.121+53T>C (n.121+53T>C)
| gnomAD v4 |
9 | g.78300716T>C | CA2690396842 | PSAT1 | c.121+54T>C (n.121+54T>C)
| gnomAD v4 |
9 | g.78300717T>C | CA2690396843 | PSAT1 | c.121+55T>C (n.121+55T>C)
| gnomAD v4 |
9 | g.78300717T>G | CA2784747467 | PSAT1 | c.121+55T>G (n.121+55T>G)
| |
9 | g.78300718T>C | CA2690396844 | PSAT1 | c.121+56T>C (n.121+56T>C)
| gnomAD v4 |
9 | g.78300718_78300719insC | CA2690396845 | PSAT1 | c.121+56_121+57insC (n.121+56_121+57insC)
| gnomAD v4 |
9 | g.78300719T>C | CA2690396846 | PSAT1 | c.121+57T>C (n.121+57T>C)
| gnomAD v4 |
9 | g.78300719T= | CA1857663860 | PSAT1 | c.121+57T= (n.121+57T=)
| |
9 | g.78300719_78300720insC | CA1857663861 | PSAT1 | c.121+57_121+58insC (n.121+57_121+58insC)
| dbSNP |
9 | g.78300720T>C | CA2690396847 | PSAT1 | c.121+58T>C (n.121+58T>C)
| gnomAD v4 |
9 | g.78300721T>C | CA2690396848 | PSAT1 | c.121+59T>C (n.121+59T>C)
| gnomAD v4 |
9 | g.78300721_78300722insCT | CA2784747468 | PSAT1 | c.121+59_121+60insCT (n.121+59_121+60insCT)
| |
9 | g.78300722T>C | CA2690396849 | PSAT1 | c.121+60T>C (n.121+60T>C)
| gnomAD v4 |
9 | g.78300722T= | CA1857663862 | PSAT1 | c.121+60T= (n.121+60T=)
| |
9 | g.78300722_78300723insC | CA1857663863 | PSAT1 | c.121+60_121+61insC (n.121+60_121+61insC)
| dbSNP |
9 | g.78300723T>C | CA2690396850 | PSAT1 | c.121+61T>C (n.121+61T>C)
| gnomAD v4 |
9 | g.78300723T>G | CA2784747469 | PSAT1 | c.121+61T>G (n.121+61T>G)
| |
9 | g.78300724T>C | CA2690396851 | PSAT1 | c.121+62T>C (n.121+62T>C)
| gnomAD v4 |
9 | g.78300725T>C | CA2690396853 | PSAT1 | c.121+63T>C (n.121+63T>C)
| gnomAD v4 |
9 | g.78300725_78300726insCT | CA2690396852 | PSAT1 | c.121+63_121+64insCT (n.121+63_121+64insCT)
| gnomAD v4 |
9 | g.78300725_78300726insA | CA2690396854 | PSAT1 | c.121+63_121+64insA (n.121+63_121+64insA)
| gnomAD v4 |
9 | g.78300725_78300726insC | CA2518422425 | PSAT1 | c.121+63_121+64insC (n.121+63_121+64insC)
| |
9 | g.78300726T>C | CA2690396855 | PSAT1 | c.121+64T>C (n.121+64T>C)
| gnomAD v4 |
9 | g.78300726_78300727insG | CA2690396856 | PSAT1 | c.121+64_121+65insG (n.121+64_121+65insG)
| gnomAD v4 |
9 | g.78300727T>C | CA2690396857 | PSAT1 | c.121+65T>C (n.121+65T>C)
| gnomAD v4 |
9 | g.78300728T>G | CA2690396858 | PSAT1 | c.121+66T>G (n.121+66T>G)
| gnomAD v4 |
9 | g.78300728T= | CA1857663864 | PSAT1 | c.121+66T= (n.121+66T=)
| |
9 | g.78300732_78300733insTTTTTTTTTGTTTTT | CA1125767062 | PSAT1 | c.121+70_121+71insTTTTTTTTTGTTTTT (n.121+70_121+71insTTTTTTTTTGTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300728_78300729insC | CA1857663865 | PSAT1 | c.121+66_121+67insC (n.121+66_121+67insC)
| dbSNP |
9 | g.78300728_78300729insG | CA2690396859 | PSAT1 | c.121+66_121+67insG (n.121+66_121+67insG)
| gnomAD v4 |
9 | g.78300729T>A | CA2690396861 | PSAT1 | c.121+67T>A (n.121+67T>A)
| gnomAD v4 |
9 | g.78300729_78300733del | CA2690396860 | PSAT1 | c.121+67_121+71del (n.121+67_121+71del)
| gnomAD v4 |
9 | g.78300730T>A | CA2510983936 | PSAT1 | c.121+68T>A (n.121+68T>A)
| gnomAD v4 |
9 | g.78300730T>C | CA2690396862 | PSAT1 | c.121+68T>C (n.121+68T>C)
| gnomAD v4 |
9 | g.78300730_78300731insA | CA2690396863 | PSAT1 | c.121+68_121+69insA (n.121+68_121+69insA)
| gnomAD v4 |
9 | g.78300731T>A | CA2579362170 | PSAT1 | c.121+69T>A (n.121+69T>A)
| gnomAD v4 |
9 | g.78300731_78300732insAT | CA2690396864 | PSAT1 | c.121+69_121+70insAT (n.121+69_121+70insAT)
| gnomAD v4 |
9 | g.78300731_78300733del | CA1125767068 | PSAT1 | c.121+69_121+71del (n.121+69_121+71del)
| gnomAD v3 gnomAD v4 |
9 | g.78300731_78300733delinsTTA | CA1857663866 | PSAT1 | c.121+69_121+71delinsTTA (n.121+69_121+71delinsTTA)
| |
9 | g.78300731_78300732insA | CA2690396868 | PSAT1 | c.121+69_121+70insA (n.121+69_121+70insA)
| gnomAD v4 |
9 | g.78300732T>A | CA2690396866 | PSAT1 | c.121+70T>A (n.121+70T>A)
| gnomAD v4 |
9 | g.78300732T>C | CA1857663869 | PSAT1 | c.121+70T>C (n.121+70T>C)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300732T>G | CA2690396865 | PSAT1 | c.121+70T>G (n.121+70T>G)
| gnomAD v4 |
9 | g.78300732T= | CA1857663868 | PSAT1 | c.121+70T= (n.121+70T=)
| |
9 | g.78300732_78300733insTCT | CA1125767069 | PSAT1 | c.121+70_121+71insTCT (n.121+70_121+71insTCT)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733del | CA1857663867 | PSAT1 | c.121+70_121+71del (n.121+70_121+71del)
| dbSNP gnomAD v4 |
9 | g.78300732_78300733delinsTA | CA1857663870 | PSAT1 | c.121+70_121+71delinsTA (n.121+70_121+71delinsTA)
| |
9 | g.78300732_78300734del | CA2690396867 | PSAT1 | c.121+70_121+72del (n.121+70_121+72del)
| gnomAD v4 |
9 | g.78300732_78300733insC | CA2690396873 | PSAT1 | c.121+70_121+71insC (n.121+70_121+71insC)
| gnomAD v4 |
9 | g.78300732_78300733insTA | CA1857663873 | PSAT1 | c.121+70_121+71insTA (n.121+70_121+71insTA)
| dbSNP gnomAD v4 |
9 | g.78300732_78300733insTTG | CA588662334 | PSAT1 | c.121+70_121+71insTTG (n.121+70_121+71insTTG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTA | CA1857663872 | PSAT1 | c.121+70_121+71insTTTA (n.121+70_121+71insTTTA)
| dbSNP gnomAD v4 |
9 | g.78300732_78300733insTTTG | CA1125767090 | PSAT1 | c.121+70_121+71insTTTG (n.121+70_121+71insTTTG)
| gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTTG | CA1125767106 | PSAT1 | c.121+70_121+71insTTTTG (n.121+70_121+71insTTTTG)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300732_78300733insTTTGGC | CA2784747474 | PSAT1 | c.121+70_121+71insTTTGGC (n.121+70_121+71insTTTGGC)
| |
9 | g.78300732_78300733insTTTTGG | CA2690396872 | PSAT1 | c.121+70_121+71insTTTTGG (n.121+70_121+71insTTTTGG)
| gnomAD v4 |
9 | g.78300732_78300733insTTTTTG | CA2784747473 | PSAT1 | c.121+70_121+71insTTTTTG (n.121+70_121+71insTTTTTG)
| |
9 | g.78300732_78300733insTTTTTGC | CA2690396871 | PSAT1 | c.121+70_121+71insTTTTTGC (n.121+70_121+71insTTTTTGC)
| gnomAD v4 |
9 | g.78300732_78300733insTTTTTGG | CA2690396870 | PSAT1 | c.121+70_121+71insTTTTTGG (n.121+70_121+71insTTTTTGG)
| gnomAD v4 |
9 | g.78300733del | CA867183563 | PSAT1 | c.121+71del (n.121+71del)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300733A= | CA1857663871 | PSAT1 | c.121+71A= (n.121+71A=)
| |
9 | g.78300733A>C | CA2784747472 | PSAT1 | c.121+71A>C (n.121+71A>C)
| |
9 | g.78300733A>G | CA1125767075 | PSAT1 | c.121+71A>G (n.121+71A>G)
| gnomAD v3 gnomAD v4 |
9 | g.78300733A>T | CA588662331 | PSAT1 | c.121+71A>T (n.121+71A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300733dup | CA2690396874 | PSAT1 | c.121+71dup (n.121+71dup)
| gnomAD v4 |
9 | g.78300733_78300735del | CA1125767080 | PSAT1 | c.121+71_121+73del (n.121+71_121+73del)
| gnomAD v3 gnomAD v4 |
9 | g.78300733_78300736del | CA2690396869 | PSAT1 | c.121+71_121+74del (n.121+71_121+74del)
| gnomAD v4 |
9 | g.78300735_78300736del | CA1125767087 | PSAT1 | c.121+73_121+74del (n.121+73_121+74del)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300733_78300734insT | CA2690396875 | PSAT1 | c.121+71_121+72insT (n.121+71_121+72insT)
| gnomAD v4 |
9 | g.78300733_78300734insTTG | CA2784747475 | PSAT1 | c.121+71_121+72insTTG (n.121+71_121+72insTTG)
| |
9 | g.78300733_78300734insTTT | CA2690396876 | PSAT1 | c.121+71_121+72insTTT (n.121+71_121+72insTTT)
| gnomAD v4 |
9 | g.78300733_78300734insTAGGCAGG | CA2784747476 | PSAT1 | c.121+71_121+72insTAGGCAGG (n.121+71_121+72insTAGGCAGG)
| |
9 | g.78300734del | CA1125767113 | PSAT1 | c.121+72del (n.121+72del)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300734G>A | CA1125767114 | PSAT1 | c.121+72G>A (n.121+72G>A)
| gnomAD v3 gnomAD v4 |
9 | g.78300734G= | CA1857663874 | PSAT1 | c.121+72G= (n.121+72G=)
| |
9 | g.78300734G>T | CA588662335 | PSAT1 | c.121+72G>T (n.121+72G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300734_78300735insTTT | CA1125767118 | PSAT1 | c.121+72_121+73insTTT (n.121+72_121+73insTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300734_78300735insTTTT | CA2598490405 | PSAT1 | c.121+72_121+73insTTTT (n.121+72_121+73insTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300735del | CA1125767126 | PSAT1 | c.121+73del (n.121+73del)
| gnomAD v3 gnomAD v4 |
9 | g.78300735A= | CA1857663875 | PSAT1 | c.121+73A= (n.121+73A=)
| |
9 | g.78300735A>G | CA1125767132 | PSAT1 | c.121+73A>G (n.121+73A>G)
| gnomAD v3 gnomAD v4 |
9 | g.78300735A>T | CA588662337 | PSAT1 | c.121+73A>T (n.121+73A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300735_78300736insTT | CA1125767147 | PSAT1 | c.121+73_121+74insTT (n.121+73_121+74insTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300735_78300736insTTTT | CA1125767144 | PSAT1 | c.121+73_121+74insTTTT (n.121+73_121+74insTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300735_78300736insTTTTT | CA2598490406 | PSAT1 | c.121+73_121+74insTTTTT (n.121+73_121+74insTTTTT)
| gnomAD v3 gnomAD v4 |
9 | g.78300736G>T | CA1125767142 | PSAT1 | c.121+74G>T (n.121+74G>T)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300736_78300737del | CA2690396877 | PSAT1 | c.121+74_121+75del (n.121+74_121+75del)
| gnomAD v4 |
9 | g.78300737G>A | CA2690396878 | PSAT1 | c.121+75G>A (n.121+75G>A)
| gnomAD v4 |
9 | g.78300737G>T | CA588662338 | PSAT1 | c.121+75G>T (n.121+75G>T)
| gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300738C>A | CA2690396879 | PSAT1 | c.121+76C>A (n.121+76C>A)
| gnomAD v4 |
9 | g.78300738C>G | CA1125767156 | PSAT1 | c.121+76C>G (n.121+76C>G)
| gnomAD v3 gnomAD v4 |
9 | g.78300738C>T | CA1125767158 | PSAT1 | c.121+76C>T (n.121+76C>T)
| gnomAD v3 gnomAD v4 |
9 | g.78300739A= | CA1857663876 | PSAT1 | c.121+77A= (n.121+77A=)
| |
9 | g.78300739A>C | CA1125767165 | PSAT1 | c.121+77A>C (n.121+77A>C)
| gnomAD v3 gnomAD v4 |
9 | g.78300739A>G | CA1857663877 | PSAT1 | c.121+77A>G (n.121+77A>G)
| dbSNP gnomAD v4 |
9 | g.78300739A>T | CA1125767168 | PSAT1 | c.121+77A>T (n.121+77A>T)
| gnomAD v3 gnomAD v4 |
9 | g.78300740G>A | CA2690396880 | PSAT1 | c.121+78G>A (n.121+78G>A)
| gnomAD v4 |
9 | g.78300740G>T | CA1125767172 | PSAT1 | c.121+78G>T (n.121+78G>T)
| gnomAD v3 gnomAD v4 |
9 | g.78300741G>A | CA2690396881 | PSAT1 | c.121+79G>A (n.121+79G>A)
| gnomAD v4 |
9 | g.78300741G>T | CA1125767174 | PSAT1 | c.121+79G>T (n.121+79G>T)
| gnomAD v3 gnomAD v4 |
9 | g.78300742G>A | CA867183566 | PSAT1 | c.121+80G>A (n.121+80G>A)
| dbSNP gnomAD v4 |
9 | g.78300742G= | CA1857663878 | PSAT1 | c.121+80G= (n.121+80G=)
| |
9 | g.78300742G>T | CA2690396882 | PSAT1 | c.121+80G>T (n.121+80G>T)
| dbSNP gnomAD v4 |
9 | g.78300743T>G | CA1125767184 | PSAT1 | c.121+81T>G (n.121+81T>G)
| gnomAD v3 gnomAD v4 |
9 | g.78300745_78300750dup | CA2690396883 | PSAT1 | c.121+83_121+88dup (n.121+83_121+88dup)
| gnomAD v4 |
9 | g.78300744C>A | CA1125767186 | PSAT1 | c.121+82C>A (n.121+82C>A)
| gnomAD v3 gnomAD v4 |
9 | g.78300744C>G | CA2690396885 | PSAT1 | c.121+82C>G (n.121+82C>G)
| gnomAD v4 |
9 | g.78300744C>T | CA2690396886 | PSAT1 | c.121+82C>T (n.121+82C>T)
| gnomAD v4 |
9 | g.78300745del | CA2690396884 | PSAT1 | c.121+83del (n.121+83del)
| gnomAD v4 |
9 | g.78300745C>A | CA2690396887 | PSAT1 | c.121+83C>A (n.121+83C>A)
| gnomAD v4 |
9 | g.78300745C>T | CA1125767187 | PSAT1 | c.121+83C>T (n.121+83C>T)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300746T>A | CA2784747484 | PSAT1 | c.121+84T>A (n.121+84T>A)
| |
9 | g.78300746T>C | CA2568190524 | PSAT1 | c.121+84T>C (n.121+84T>C)
| |
9 | g.78300747G>A | CA194437765 | PSAT1 | c.121+85G>A (n.121+85G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300747G= | CA1857663879 | PSAT1 | c.121+85G= (n.121+85G=)
| |
9 | g.78300747G>T | CA1125767195 | PSAT1 | c.121+85G>T (n.121+85G>T)
| gnomAD v3 gnomAD v4 |
9 | g.78300748C>A | CA2690396890 | PSAT1 | c.121+86C>A (n.121+86C>A)
| gnomAD v4 |
9 | g.78300748C>G | CA2690396889 | PSAT1 | c.121+86C>G (n.121+86C>G)
| gnomAD v4 |
9 | g.78300748C>T | CA2690396888 | PSAT1 | c.121+86C>T (n.121+86C>T)
| gnomAD v4 |
9 | g.78300749T>A | CA2552793581 | PSAT1 | c.121+87T>A (n.121+87T>A)
| gnomAD v4 |
9 | g.78300750C>A | CA2690396891 | PSAT1 | c.121+88C>A (n.121+88C>A)
| gnomAD v4 |
9 | g.78300750C>G | CA2690396892 | PSAT1 | c.121+88C>G (n.121+88C>G)
| gnomAD v4 |
9 | g.78300750C>T | CA1125767198 | PSAT1 | c.121+88C>T (n.121+88C>T)
| gnomAD v3 gnomAD v4 |