9 | g.78300558C>A | CA194437458 | PSAT1 | c.61-44C>A (n.61-44C>A)
| dbSNP |
9 | g.78300558C= | CA1857663785 | PSAT1 | c.61-44C= (n.61-44C=)
| |
9 | g.78300560_78300564dup | CA588662284 | PSAT1 | c.61-42_61-38dup (n.61-42_61-38dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300559A>G | CA2690396772 | PSAT1 | c.61-43A>G (n.61-43A>G)
| gnomAD v4 |
9 | g.78300560G>A | CA2690396773 | PSAT1 | c.61-42G>A (n.61-42G>A)
| gnomAD v4 |
9 | g.78300560G>T | CA2690396774 | PSAT1 | c.61-42G>T (n.61-42G>T)
| gnomAD v4 |
9 | g.78300562A= | CA1857663786 | PSAT1 | c.61-40A= (n.61-40A=)
| |
9 | g.78300562A>C | CA5095487 | PSAT1 | c.61-40A>C (n.61-40A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.78300563C>T | CA2690396775 | PSAT1 | c.61-39C>T (n.61-39C>T)
| gnomAD v4 |
9 | g.78300564A= | CA1857663787 | PSAT1 | c.61-38A= (n.61-38A=)
| |
9 | g.78300564A>G | CA5095488 | PSAT1 | c.61-38A>G (n.61-38A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300566A= | CA1857663788 | PSAT1 | c.61-36A= (n.61-36A=)
| |
9 | g.78300566A>G | CA5095489 | PSAT1 | c.61-36A>G (n.61-36A>G)
| dbSNP ExAC gnomAD v2 |
9 | g.78300567T>A | CA588662289 | PSAT1 | c.61-35T>A (n.61-35T>A)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.78300567T>G | CA2690396776 | PSAT1 | c.61-35T>G (n.61-35T>G)
| gnomAD v4 |
9 | g.78300567T= | CA1857663789 | PSAT1 | c.61-35T= (n.61-35T=)
| |
9 | g.78300570A>G | CA2690396777 | PSAT1 | c.61-32A>G (n.61-32A>G)
| gnomAD v4 |
9 | g.78300572A>G | CA2690396778 | PSAT1 | c.61-30A>G (n.61-30A>G)
| gnomAD v4 |
9 | g.78300573_78300574delinsTA | CA1857663790 | PSAT1 | c.61-29_61-28delinsTA (n.61-29_61-28delinsTA)
| |
9 | g.78300575del | CA5095490 | PSAT1 | c.61-27del (n.61-27del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.78300575A= | CA1857663791 | PSAT1 | c.61-27A= (n.61-27A=)
| |
9 | g.78300575A>G | CA194437493 | PSAT1 | c.61-27A>G (n.61-27A>G)
| dbSNP gnomAD v4 |
9 | g.78300576C>A | CA5095491 | PSAT1 | c.61-26C>A (n.61-26C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300576C= | CA1857663792 | PSAT1 | c.61-26C= (n.61-26C=)
| |
9 | g.78300576C>G | CA588662293 | PSAT1 | c.61-26C>G (n.61-26C>G)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.78300576C>T | CA2690396779 | PSAT1 | c.61-26C>T (n.61-26C>T)
| gnomAD v4 |
9 | g.78300577C>G | CA2690396780 | PSAT1 | c.61-25C>G (n.61-25C>G)
| gnomAD v4 |
9 | g.78300578C>A | CA2690396781 | PSAT1 | c.61-24C>A (n.61-24C>A)
| gnomAD v4 |
9 | g.78300580A= | CA1857663793 | PSAT1 | c.61-22A= (n.61-22A=)
| |
9 | g.78300580A>G | CA5095492 | PSAT1 | c.61-22A>G (n.61-22A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300583T>G | CA2690396782 | PSAT1 | c.61-19T>G (n.61-19T>G)
| gnomAD v4 |
9 | g.78300584T>C | CA2784747430 | PSAT1 | c.61-18T>C (n.61-18T>C)
| |
9 | g.78300585C= | CA1857663794 | PSAT1 | c.61-17C= (n.61-17C=)
| |
9 | g.78300585C>G | CA588662294 | PSAT1 | c.61-17C>G (n.61-17C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300585C>T | CA588662295 | PSAT1 | c.61-17C>T (n.61-17C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300589dup | CA2690396783 | PSAT1 | c.61-13dup (n.61-13dup)
| gnomAD v4 |
9 | g.78300589_78300590delinsTA | CA1857663795 | PSAT1 | c.61-13_61-12delinsTA (n.61-13_61-12delinsTA)
| |
9 | g.78300590del | CA5095493 | PSAT1 | c.61-12del (n.61-12del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.78300590A>T | CA652947841 | PSAT1 | c.61-12A>T (n.61-12A>T)
| gnomAD v3 gnomAD v4 COSMIC |
9 | g.78300590_78300591delinsAT | CA1857663796 | PSAT1 | c.61-12_61-11delinsAT (n.61-12_61-11delinsAT)
| |
9 | g.78300591T>A | CA2842873051 | PSAT1 | c.61-11T>A (n.61-11T>A)
| |
9 | g.78300597dup | CA5095494 | PSAT1 | c.61-5dup (n.61-5dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300597del | CA918487509 | PSAT1 | c.61-5del (n.61-5del)
| dbSNP gnomAD v4 |
9 | g.78300592T>C | CA194437529 | PSAT1 | c.61-10T>C (n.61-10T>C)
| dbSNP |
9 | g.78300592T= | CA1857663797 | PSAT1 | c.61-10T= (n.61-10T=)
| |
9 | g.78300593T>C | CA1857663798 | PSAT1 | c.61-9T>C (n.61-9T>C)
| dbSNP gnomAD v4 |
9 | g.78300593T>G | CA5095495 | PSAT1 | c.61-9T>G (n.61-9T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.78300593T= | CA1857663799 | PSAT1 | c.61-9T= (n.61-9T=)
| |
9 | g.78300594T>A | CA867183311 | PSAT1 | c.61-8T>A (n.61-8T>A)
| dbSNP |
9 | g.78300594T= | CA1857663800 | PSAT1 | c.61-8T= (n.61-8T=)
| |
9 | g.78300595T>A | CA2690396784 | PSAT1 | c.61-7T>A (n.61-7T>A)
| gnomAD v4 |
9 | g.78300599T>C | CA5095496 | PSAT1 | c.61-3T>C (n.61-3T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300599T= | CA1857663801 | PSAT1 | c.61-3T= (n.61-3T=)
| |
9 | g.78300600A= | CA1857663802 | PSAT1 | c.61-2A= (n.61-2A=)
| |
9 | g.78300600A>C | CA373871399 | PSAT1 | c.61-2A>C (n.61-2A>C)
| |
9 | g.78300600A>G | CA373871401 | PSAT1 | c.61-2A>G (n.61-2A>G)
| ClinVar dbSNP |
9 | g.78300600A>T | CA373871402 | PSAT1 | c.61-2A>T (n.61-2A>T)
| |
9 | g.78300601G>A | CA373871404 | PSAT1 | c.61-1G>A (n.61-1G>A)
| |
9 | g.78300601G>C | CA373871406 | PSAT1 | c.61-1G>C (n.61-1G>C)
| gnomAD v4 |
9 | g.78300601G>T | CA373871407 | PSAT1 | c.61-1G>T (n.61-1G>T)
| |
9 | g.78300602G>A | CA373871409 | PSAT1 | c.61G>A (p.Val21Met)
| COSMIC |
9 | g.78300602G>C | CA373871412 | PSAT1 | c.61G>C (p.Val21Leu)
| gnomAD v4 |
9 | g.78300602G>T | CA373871410 | PSAT1 | c.61G>T (p.Val21Leu)
| |
9 | g.78300603T>A | CA373871414 | PSAT1 | c.62T>A (p.Val21Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.78300603T>C | CA373871416 | PSAT1 | c.62T>C (p.Val21Ala)
| |
9 | g.78300603T>G | CA5095497 | PSAT1 | c.62T>G (p.Val21Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300603T= | CA1857663803 | PSAT1 | c.62T= (p.Val21=)
| |
9 | g.78300604G>A | CA465542724 | PSAT1 | c.63G>A (p.Val21=)
| |
9 | g.78300604G>C | CA465542723 | PSAT1 | c.63G>C (p.Val21=)
| |
9 | g.78300604G>T | CA465542722 | PSAT1 | c.63G>T (p.Val21=)
| |
9 | g.78300605T>A | CA373871417 | PSAT1 | c.64T>A (p.Leu22Met)
| |
9 | g.78300605T>C | CA465542725 | PSAT1 | c.64T>C (p.Leu22=)
| |
9 | g.78300605T>G | CA373871418 | PSAT1 | c.64T>G (p.Leu22Val)
| |
9 | g.78300606T>A | CA373871419 | PSAT1 | c.65T>A (p.Leu22Ter)
| |
9 | g.78300606T>C | CA373871421 | PSAT1 | c.65T>C (p.Leu22Ser)
| |
9 | g.78300606T>G | CA5095498 | PSAT1 | c.65T>G (p.Leu22Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.78300606T= | CA1857663804 | PSAT1 | c.65T= (p.Leu22=)
| |
9 | g.78300607G>A | CA5095499 | PSAT1 | c.66G>A (p.Leu22=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300607G>C | CA373871422 | PSAT1 | c.66G>C (p.Leu22Phe)
| |
9 | g.78300607G= | CA1857663805 | PSAT1 | c.66G= (p.Leu22=)
| |
9 | g.78300607G>T | CA373871423 | PSAT1 | c.66G>T (p.Leu22Phe)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300608T>A | CA373871427 | PSAT1 | c.67T>A (p.Leu23Ile)
| |
9 | g.78300608T>C | CA465542726 | PSAT1 | c.67T>C (p.Leu23=)
| |
9 | g.78300608T>G | CA373871424 | PSAT1 | c.67T>G (p.Leu23Val)
| |
9 | g.78300609T>A | CA373871428 | PSAT1 | c.68T>A (p.Leu23Ter)
| |
9 | g.78300609T>C | CA373871429 | PSAT1 | c.68T>C (p.Leu23Ser)
| |
9 | g.78300609T>G | CA373871432 | PSAT1 | c.68T>G (p.Leu23Ter)
| |
9 | g.78300610A>C | CA373871434 | PSAT1 | c.69A>C (p.Leu23Phe)
| |
9 | g.78300610A>G | CA465542727 | PSAT1 | c.69A>G (p.Leu23=)
| |
9 | g.78300610A>T | CA373871435 | PSAT1 | c.69A>T (p.Leu23Phe)
| |
9 | g.78300611G>A | CA373871437 | PSAT1 | c.70G>A (p.Glu24Lys)
| dbSNP |
9 | g.78300611G>C | CA373871439 | PSAT1 | c.70G>C (p.Glu24Gln)
| |
9 | g.78300611G= | CA1857663806 | PSAT1 | c.70G= (p.Glu24=)
| |
9 | g.78300611G>T | CA373871440 | PSAT1 | c.70G>T (p.Glu24Ter)
| gnomAD v4 |
9 | g.78300612A>C | CA373871441 | PSAT1 | c.71A>C (p.Glu24Ala)
| gnomAD v4 |
9 | g.78300612A>G | CA373871442 | PSAT1 | c.71A>G (p.Glu24Gly)
| |
9 | g.78300612A>T | CA373871444 | PSAT1 | c.71A>T (p.Glu24Val)
| |
9 | g.78300613G>A | CA465542728 | PSAT1 | c.72G>A (p.Glu24=)
| |
9 | g.78300613G>C | CA373871445 | PSAT1 | c.72G>C (p.Glu24Asp)
| |
9 | g.78300613G>T | CA373871447 | PSAT1 | c.72G>T (p.Glu24Asp)
| |
9 | g.78300614A= | CA1857663807 | PSAT1 | c.73A= (p.Ile25=)
| |
9 | g.78300614A>C | CA373871449 | PSAT1 | c.73A>C (p.Ile25Leu)
| |
9 | g.78300614A>G | CA5095500 | PSAT1 | c.73A>G (p.Ile25Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.78300614A>T | CA373871448 | PSAT1 | c.73A>T (p.Ile25Leu)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.78300615T>A | CA373871451 | PSAT1 | c.74T>A (p.Ile25Lys)
| |
9 | g.78300615T>C | CA373871453 | PSAT1 | c.74T>C (p.Ile25Thr)
| COSMIC |
9 | g.78300615T>G | CA373871454 | PSAT1 | c.74T>G (p.Ile25Arg)
| |
9 | g.78300616A>C | CA465542729 | PSAT1 | c.75A>C (p.Ile25=)
| |
9 | g.78300616A>G | CA373871455 | PSAT1 | c.75A>G (p.Ile25Met)
| |
9 | g.78300616A>T | CA465542730 | PSAT1 | c.75A>T (p.Ile25=)
| |
9 | g.78300617C>A | CA373871456 | PSAT1 | c.76C>A (p.Gln26Lys)
| gnomAD v4 |
9 | g.78300617C>G | CA373871458 | PSAT1 | c.76C>G (p.Gln26Glu)
| |
9 | g.78300617C>T | CA373871459 | PSAT1 | c.76C>T (p.Gln26Ter)
| ClinVar |
9 | g.78300618A>C | CA373871461 | PSAT1 | c.77A>C (p.Gln26Pro)
| |
9 | g.78300618A>G | CA373871462 | PSAT1 | c.77A>G (p.Gln26Arg)
| |
9 | g.78300618A>T | CA373871464 | PSAT1 | c.77A>T (p.Gln26Leu)
| |
9 | g.78300621dup | CA2842873052 | PSAT1 | c.80dup (p.Glu28GlyfsTer11)
| |
9 | g.78300619A>C | CA373871466 | PSAT1 | c.78A>C (p.Gln26His)
| |
9 | g.78300619A>G | CA465542731 | PSAT1 | c.78A>G (p.Gln26=)
| gnomAD v4 |
9 | g.78300619A>T | CA373871467 | PSAT1 | c.78A>T (p.Gln26His)
| |
9 | g.78300620A= | CA1857663808 | PSAT1 | c.79A= (p.Lys27=)
| |
9 | g.78300620A>C | CA373871470 | PSAT1 | c.79A>C (p.Lys27Gln)
| |
9 | g.78300620A>G | CA194437571 | PSAT1 | c.79A>G (p.Lys27Glu)
| dbSNP |
9 | g.78300620A>T | CA373871472 | PSAT1 | c.79A>T (p.Lys27Ter)
| |
9 | g.78300621A= | CA1857663809 | PSAT1 | c.80A= (p.Lys27=)
| |
9 | g.78300621A>C | CA373871474 | PSAT1 | c.80A>C (p.Lys27Thr)
| |
9 | g.78300621A>G | CA194437583 | PSAT1 | c.80A>G (p.Lys27Arg)
| ClinVar dbSNP gnomAD v4 |
9 | g.78300621A>T | CA373871475 | PSAT1 | c.80A>T (p.Lys27Met)
| |
9 | g.78300622G>A | CA465542732 | PSAT1 | c.81G>A (p.Lys27=)
| |
9 | g.78300622G>C | CA373871477 | PSAT1 | c.81G>C (p.Lys27Asn)
| |
9 | g.78300622G>T | CA373871478 | PSAT1 | c.81G>T (p.Lys27Asn)
| gnomAD v4 |
9 | g.78300623G>A | CA373871479 | PSAT1 | c.82G>A (p.Glu28Lys)
| |
9 | g.78300623G>C | CA373871483 | PSAT1 | c.82G>C (p.Glu28Gln)
| |
9 | g.78300623G>T | CA373871481 | PSAT1 | c.82G>T (p.Glu28Ter)
| |
9 | g.78300623_78300624del | CA2549250667 | PSAT1 | c.82_83del (p.Glu28IlefsTer10)
| ClinVar gnomAD v4 |
9 | g.78300624A>C | CA373871484 | PSAT1 | c.83A>C (p.Glu28Ala)
| |
9 | g.78300624A>G | CA373871488 | PSAT1 | c.83A>G (p.Glu28Gly)
| |
9 | g.78300624A>T | CA373871486 | PSAT1 | c.83A>T (p.Glu28Val)
| |
9 | g.78300625A= | CA1857663810 | PSAT1 | c.84A= (p.Glu28=)
| |
9 | g.78300625A>C | CA373871489 | PSAT1 | c.84A>C (p.Glu28Asp)
| |
9 | g.78300625A>G | CA5095501 | PSAT1 | c.84A>G (p.Glu28=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.78300625A>T | CA373871490 | PSAT1 | c.84A>T (p.Glu28Asp)
| |
9 | g.78300626T>A | CA373871491 | PSAT1 | c.85T>A (p.Leu29Ile)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300626T>C | CA465542733 | PSAT1 | c.85T>C (p.Leu29=)
| |
9 | g.78300626T>G | CA373871493 | PSAT1 | c.85T>G (p.Leu29Val)
| |
9 | g.78300626T= | CA1857663811 | PSAT1 | c.85T= (p.Leu29=)
| |
9 | g.78300627T>A | CA373871495 | PSAT1 | c.86T>A (p.Leu29Ter)
| |
9 | g.78300627T>C | CA373871496 | PSAT1 | c.86T>C (p.Leu29Ser)
| |
9 | g.78300627T>G | CA373871497 | PSAT1 | c.86T>G (p.Leu29Ter)
| |
9 | g.78300628A= | CA1857663812 | PSAT1 | c.87A= (p.Leu29=)
| |
9 | g.78300628A>C | CA373871498 | PSAT1 | c.87A>C (p.Leu29Phe)
| |
9 | g.78300628A>G | CA465542734 | PSAT1 | c.87A>G (p.Leu29=)
| dbSNP |
9 | g.78300628A>T | CA373871499 | PSAT1 | c.87A>T (p.Leu29Phe)
| |
9 | g.78300629T>A | CA373871500 | PSAT1 | c.88T>A (p.Leu30Ile)
| |
9 | g.78300629T>C | CA465542735 | PSAT1 | c.88T>C (p.Leu30=)
| |
9 | g.78300629T>G | CA373871502 | PSAT1 | c.88T>G (p.Leu30Val)
| |
9 | g.78300630T>A | CA373871503 | PSAT1 | c.89T>A (p.Leu30Ter)
| |
9 | g.78300630T>C | CA373871505 | PSAT1 | c.89T>C (p.Leu30Ser)
| dbSNP |
9 | g.78300630T>G | CA373871507 | PSAT1 | c.89T>G (p.Leu30Ter)
| gnomAD v4 |
9 | g.78300630T= | CA1857663813 | PSAT1 | c.89T= (p.Leu30=)
| |
9 | g.78300631A= | CA1857663814 | PSAT1 | c.90A= (p.Leu30=)
| |
9 | g.78300631A>C | CA373871510 | PSAT1 | c.90A>C (p.Leu30Phe)
| |
9 | g.78300631A>G | CA465542736 | PSAT1 | c.90A>G (p.Leu30=)
| ClinVar dbSNP |
9 | g.78300631A>T | CA373871508 | PSAT1 | c.90A>T (p.Leu30Phe)
| gnomAD v4 |
9 | g.78300632G>A | CA373871513 | PSAT1 | c.91G>A (p.Asp31Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.78300632G>C | CA373871514 | PSAT1 | c.91G>C (p.Asp31His)
| |
9 | g.78300632G= | CA1857663815 | PSAT1 | c.91G= (p.Asp31=)
| |
9 | g.78300632G>T | CA373871518 | PSAT1 | c.91G>T (p.Asp31Tyr)
| |
9 | g.78300633A>C | CA373871519 | PSAT1 | c.92A>C (p.Asp31Ala)
| |
9 | g.78300633A>G | CA373871521 | PSAT1 | c.92A>G (p.Asp31Gly)
| ClinVar |
9 | g.78300633A>T | CA373871523 | PSAT1 | c.92A>T (p.Asp31Val)
| |
9 | g.78300634C>A | CA373871524 | PSAT1 | c.93C>A (p.Asp31Glu)
| |
9 | g.78300634C>G | CA373871526 | PSAT1 | c.93C>G (p.Asp31Glu)
| |
9 | g.78300634C>T | CA465542737 | PSAT1 | c.93C>T (p.Asp31=)
| |
9 | g.78300635T>A | CA373871527 | PSAT1 | c.94T>A (p.Tyr32Asn)
| |
9 | g.78300635T>C | CA5095502 | PSAT1 | c.94T>C (p.Tyr32His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300635T>G | CA373871529 | PSAT1 | c.94T>G (p.Tyr32Asp)
| |
9 | g.78300635T= | CA1857663816 | PSAT1 | c.94T= (p.Tyr32=)
| |
9 | g.78300636A>C | CA373871536 | PSAT1 | c.95A>C (p.Tyr32Ser)
| |
9 | g.78300636A>G | CA373871533 | PSAT1 | c.95A>G (p.Tyr32Cys)
| |
9 | g.78300636A>T | CA373871532 | PSAT1 | c.95A>T (p.Tyr32Phe)
| |
9 | g.78300637C>A | CA373871537 | PSAT1 | c.96C>A (p.Tyr32Ter)
| |
9 | g.78300637C>G | CA373871538 | PSAT1 | c.96C>G (p.Tyr32Ter)
| |
9 | g.78300637C>T | CA465542738 | PSAT1 | c.96C>T (p.Tyr32=)
| gnomAD v4 |
9 | g.78300638A= | CA1857663817 | PSAT1 | c.97A= (p.Lys33=)
| |
9 | g.78300638A>C | CA373871539 | PSAT1 | c.97A>C (p.Lys33Gln)
| |
9 | g.78300638A>G | CA373871540 | PSAT1 | c.97A>G (p.Lys33Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300638A>T | CA373871541 | PSAT1 | c.97A>T (p.Lys33Ter)
| |
9 | g.78300639A= | CA1857663818 | PSAT1 | c.98A= (p.Lys33=)
| |
9 | g.78300639A>C | CA373871542 | PSAT1 | c.98A>C (p.Lys33Thr)
| |
9 | g.78300639A>G | CA373871543 | PSAT1 | c.98A>G (p.Lys33Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.78300639A>T | CA373871544 | PSAT1 | c.98A>T (p.Lys33Ile)
| |
9 | g.78300639_78300641del | CA2690396785 | PSAT1 | c.98_100del (p.Lys33_Gly34delinsArg)
| gnomAD v4 |
9 | g.78300640A>C | CA373871545 | PSAT1 | c.99A>C (p.Lys33Asn)
| |
9 | g.78300640A>G | CA465542739 | PSAT1 | c.99A>G (p.Lys33=)
| ClinVar gnomAD v4 |
9 | g.78300640A>T | CA373871547 | PSAT1 | c.99A>T (p.Lys33Asn)
| |
9 | g.78300641G>A | CA373871548 | PSAT1 | c.100G>A (p.Gly34Arg)
| |
9 | g.78300641G>C | CA373871550 | PSAT1 | c.100G>C (p.Gly34Arg)
| |
9 | g.78300641G>T | CA373871551 | PSAT1 | c.100G>T (p.Gly34Ter)
| |
9 | g.78300642G>A | CA373871552 | PSAT1 | c.101G>A (p.Gly34Glu)
| gnomAD v4 |
9 | g.78300642G>C | CA373871555 | PSAT1 | c.101G>C (p.Gly34Ala)
| |
9 | g.78300642G>T | CA373871553 | PSAT1 | c.101G>T (p.Gly34Val)
| |
9 | g.78300643A= | CA1857663819 | PSAT1 | c.102A= (p.Gly34=)
| |
9 | g.78300643A>C | CA465542741 | PSAT1 | c.102A>C (p.Gly34=)
| |
9 | g.78300643A>G | CA465542742 | PSAT1 | c.102A>G (p.Gly34=)
| |
9 | g.78300643A>T | CA465542740 | PSAT1 | c.102A>T (p.Gly34=)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300644G>A | CA373871557 | PSAT1 | c.103G>A (p.Val35Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300644G>C | CA373871559 | PSAT1 | c.103G>C (p.Val35Leu)
| |
9 | g.78300644G= | CA1857663820 | PSAT1 | c.103G= (p.Val35=)
| |
9 | g.78300644G>T | CA373871560 | PSAT1 | c.103G>T (p.Val35Phe)
| |
9 | g.78300645T>A | CA5095503 | PSAT1 | c.104T>A (p.Val35Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300645T>C | CA373871562 | PSAT1 | c.104T>C (p.Val35Ala)
| |
9 | g.78300645T>G | CA373871563 | PSAT1 | c.104T>G (p.Val35Gly)
| |
9 | g.78300645T= | CA1857663821 | PSAT1 | c.104T= (p.Val35=)
| |
9 | g.78300646T>A | CA465542743 | PSAT1 | c.105T>A (p.Val35=)
| |
9 | g.78300646T>C | CA465542744 | PSAT1 | c.105T>C (p.Val35=)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.78300646T>G | CA465542745 | PSAT1 | c.105T>G (p.Val35=)
| |
9 | g.78300646T= | CA1857663823 | PSAT1 | c.105T= (p.Val35=)
| |
9 | g.78300646_78300647delinsTG | CA1857663822 | PSAT1 | c.105_106delinsTG (p.Val35=)
| |
9 | g.78300647G>A | CA373871567 | PSAT1 | c.106G>A (p.Gly36Ser)
| dbSNP |
9 | g.78300647G>C | CA5095504 | PSAT1 | c.106G>C (p.Gly36Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300647G= | CA1857663824 | PSAT1 | c.106G= (p.Gly36=)
| |
9 | g.78300647G>T | CA373871568 | PSAT1 | c.106G>T (p.Gly36Cys)
| |
9 | g.78300648del | CA114738 | PSAT1 | c.107del (p.Gly36AlafsTer7)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300648G>A | CA373871572 | PSAT1 | c.107G>A (p.Gly36Asp)
| ClinVar dbSNP gnomAD v2 |
9 | g.78300648G>C | CA373871571 | PSAT1 | c.107G>C (p.Gly36Ala)
| |
9 | g.78300648G= | CA1857663825 | PSAT1 | c.107G= (p.Gly36=)
| |
9 | g.78300648G>T | CA373871573 | PSAT1 | c.107G>T (p.Gly36Val)
| |
9 | g.78300649C>A | CA465542748 | PSAT1 | c.108C>A (p.Gly36=)
| |
9 | g.78300649C= | CA1857663826 | PSAT1 | c.108C= (p.Gly36=)
| |
9 | g.78300649C>G | CA465542747 | PSAT1 | c.108C>G (p.Gly36=)
| |
9 | g.78300649C>T | CA465542746 | PSAT1 | c.108C>T (p.Gly36=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.78300650A= | CA1857663827 | PSAT1 | c.109A= (p.Ile37=)
| |
9 | g.78300650A>C | CA373871576 | PSAT1 | c.109A>C (p.Ile37Leu)
| |
9 | g.78300650A>G | CA5095505 | PSAT1 | c.109A>G (p.Ile37Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78300650A>T | CA373871575 | PSAT1 | c.109A>T (p.Ile37Phe)
| |
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=)
| |