Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.25918437del | CA2677596627 | SLC17A2 | c.649+53del (n.649+53del) c.580+53del (n.580+53del) | gnomAD v4 |
6 | g.25918437A>G | CA2677596630 | SLC17A2 | c.649+50T>C (n.649+50T>C) c.580+50T>C (n.580+50T>C) | gnomAD v4 |
6 | g.25918439G>T | CA2677596632 | SLC17A2 | c.649+48C>A (n.649+48C>A) c.580+48C>A (n.580+48C>A) | gnomAD v4 |
6 | g.25918440del | CA2677596631 | SLC17A2 | c.649+48del (n.649+48del) c.580+48del (n.580+48del) | gnomAD v4 |
6 | g.25918440G>A | CA2677596633 | SLC17A2 | c.649+47C>T (n.649+47C>T) c.580+47C>T (n.580+47C>T) | gnomAD v4 |
6 | g.25918440G>T | CA2677596634 | SLC17A2 | c.649+47C>A (n.649+47C>A) c.580+47C>A (n.580+47C>A) | gnomAD v4 |
6 | g.25918442T>C | CA823427412 | SLC17A2 | c.649+45A>G (n.649+45A>G) c.580+45A>G (n.580+45A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.25918442T= | CA1616810430 | SLC17A2 | c.649+45A= (n.649+45A=) c.580+45A= (n.580+45A=) | |
6 | g.25918443G>A | CA565959705 | SLC17A2 | c.649+44C>T (n.649+44C>T) c.580+44C>T (n.580+44C>T) | dbSNP gnomAD v2 |
6 | g.25918443G= | CA1616810431 | SLC17A2 | c.649+44C= (n.649+44C=) c.580+44C= (n.580+44C=) | |
6 | g.25918443G>T | CA2677596635 | SLC17A2 | c.649+44C>A (n.649+44C>A) c.580+44C>A (n.580+44C>A) | gnomAD v4 |
6 | g.25918444C= | CA1616810432 | SLC17A2 | c.649+43G= (n.649+43G=) c.580+43G= (n.580+43G=) | |
6 | g.25918444C>T | CA1087052648 | SLC17A2 | c.649+43G>A (n.649+43G>A) c.580+43G>A (n.580+43G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.25918445T>C | CA3663520 | SLC17A2 | c.649+42A>G (n.649+42A>G) c.580+42A>G (n.580+42A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.25918445T= | CA1616810433 | SLC17A2 | c.649+42A= (n.649+42A=) c.580+42A= (n.580+42A=) | |
6 | g.25918446del | CA2770365135 | SLC17A2 | c.649+41del (n.649+41del) c.580+41del (n.580+41del) | |
6 | g.25918446C>A | CA2677596636 | SLC17A2 | c.649+41G>T (n.649+41G>T) c.580+41G>T (n.580+41G>T) | gnomAD v4 |
6 | g.25918447A>G | CA2677596637 | SLC17A2 | c.649+40T>C (n.649+40T>C) c.580+40T>C (n.580+40T>C) | gnomAD v4 |
6 | g.25918448G>T | CA2677596638 | SLC17A2 | c.649+39C>A (n.649+39C>A) c.580+39C>A (n.580+39C>A) | gnomAD v4 |
6 | g.25918449G>T | CA2677596639 | SLC17A2 | c.649+38C>A (n.649+38C>A) c.580+38C>A (n.580+38C>A) | gnomAD v4 |
6 | g.25918450A= | CA1616810434 | SLC17A2 | c.649+37T= (n.649+37T=) c.580+37T= (n.580+37T=) | |
6 | g.25918450A>C | CA823427415 | SLC17A2 | c.649+37T>G (n.649+37T>G) c.580+37T>G (n.580+37T>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.25918451A= | CA1616810435 | SLC17A2 | c.649+36T= (n.649+36T=) c.580+36T= (n.580+36T=) | |
6 | g.25918451A>C | CA565959706 | SLC17A2 | c.649+36T>G (n.649+36T>G) c.580+36T>G (n.580+36T>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25918451A>G | CA2677596640 | SLC17A2 | c.649+36T>C (n.649+36T>C) c.580+36T>C (n.580+36T>C) | gnomAD v4 |
6 | g.25918452A= | CA1616810436 | SLC17A2 | c.649+35T= (n.649+35T=) c.580+35T= (n.580+35T=) | |
6 | g.25918452A>G | CA136234805 | SLC17A2 | c.649+35T>C (n.649+35T>C) c.580+35T>C (n.580+35T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25918453T>C | CA2677596641 | SLC17A2 | c.649+34A>G (n.649+34A>G) c.580+34A>G (n.580+34A>G) | gnomAD v4 |
6 | g.25918454G>A | CA2677596642 | SLC17A2 | c.649+33C>T (n.649+33C>T) c.580+33C>T (n.580+33C>T) | gnomAD v4 |
6 | g.25918454G>T | CA2677596643 | SLC17A2 | c.649+33C>A (n.649+33C>A) c.580+33C>A (n.580+33C>A) | gnomAD v4 |
6 | g.25918455G>A | CA565959708 | SLC17A2 | c.649+32C>T (n.649+32C>T) c.580+32C>T (n.580+32C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25918455G>C | CA823427419 | SLC17A2 | c.649+32C>G (n.649+32C>G) c.580+32C>G (n.580+32C>G) | dbSNP |
6 | g.25918455G= | CA1616810437 | SLC17A2 | c.649+32C= (n.649+32C=) c.580+32C= (n.580+32C=) | |
6 | g.25918455G>T | CA2677596644 | SLC17A2 | c.649+32C>A (n.649+32C>A) c.580+32C>A (n.580+32C>A) | gnomAD v4 |
6 | g.25918456A= | CA1616810438 | SLC17A2 | c.649+31T= (n.649+31T=) c.580+31T= (n.580+31T=) | |
6 | g.25918456A>G | CA823427421 | SLC17A2 | c.649+31T>C (n.649+31T>C) c.580+31T>C (n.580+31T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.25918456A>T | CA2677596645 | SLC17A2 | c.649+31T>A (n.649+31T>A) c.580+31T>A (n.580+31T>A) | gnomAD v4 |
6 | g.25918457G>A | CA3663521 | SLC17A2 | c.649+30C>T (n.649+30C>T) c.580+30C>T (n.580+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.25918457G= | CA1616810439 | SLC17A2 | c.649+30C= (n.649+30C=) c.580+30C= (n.580+30C=) | |
6 | g.25918457G>T | CA2677596646 | SLC17A2 | c.649+30C>A (n.649+30C>A) c.580+30C>A (n.580+30C>A) | gnomAD v4 |
6 | g.25918458G>A | CA2677596647 | SLC17A2 | c.649+29C>T (n.649+29C>T) c.580+29C>T (n.580+29C>T) | gnomAD v4 |
6 | g.25918458G>T | CA2677596648 | SLC17A2 | c.649+29C>A (n.649+29C>A) c.580+29C>A (n.580+29C>A) | gnomAD v4 |
6 | g.25918459C>A | CA650820930 | SLC17A2 | c.649+28G>T (n.649+28G>T) c.580+28G>T (n.580+28G>T) | COSMIC |
6 | g.25918459C= | CA1616810440 | SLC17A2 | c.649+28G= (n.649+28G=) c.580+28G= (n.580+28G=) | |
6 | g.25918459C>T | CA136234808 | SLC17A2 | c.649+28G>A (n.649+28G>A) c.580+28G>A (n.580+28G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.25918460G>A | CA3663522 | SLC17A2 | c.649+27C>T (n.649+27C>T) c.580+27C>T (n.580+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25918460G>C | CA565959710 | SLC17A2 | c.649+27C>G (n.649+27C>G) c.580+27C>G (n.580+27C>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25918460G= | CA1616810441 | SLC17A2 | c.649+27C= (n.649+27C=) c.580+27C= (n.580+27C=) | |
6 | g.25918460G>T | CA2581550153 | SLC17A2 | c.649+27C>A (n.649+27C>A) c.580+27C>A (n.580+27C>A) | gnomAD v4 |
6 | g.25918461T>A | CA2677596650 | SLC17A2 | c.649+26A>T (n.649+26A>T) c.580+26A>T (n.580+26A>T) | gnomAD v4 |
6 | g.25918461T>C | CA1616810443 | SLC17A2 | c.649+26A>G (n.649+26A>G) c.580+26A>G (n.580+26A>G) | dbSNP gnomAD v4 |
6 | g.25918461T>G | CA2677596651 | SLC17A2 | c.649+26A>C (n.649+26A>C) c.580+26A>C (n.580+26A>C) | gnomAD v4 |
6 | g.25918461T= | CA1616810442 | SLC17A2 | c.649+26A= (n.649+26A=) c.580+26A= (n.580+26A=) | |
6 | g.25918462del | CA2677596649 | SLC17A2 | c.649+26del (n.649+26del) c.580+26del (n.580+26del) | gnomAD v4 |
6 | g.25918462T>C | CA2677596652 | SLC17A2 | c.649+25A>G (n.649+25A>G) c.580+25A>G (n.580+25A>G) | gnomAD v4 |
6 | g.25918462T>G | CA2677596653 | SLC17A2 | c.649+25A>C (n.649+25A>C) c.580+25A>C (n.580+25A>C) | gnomAD v4 |
6 | g.25918463A>G | CA2578548289 | SLC17A2 | c.649+24T>C (n.649+24T>C) c.580+24T>C (n.580+24T>C) | dbSNP gnomAD v4 |
6 | g.25918463A>T | CA2677596654 | SLC17A2 | c.649+24T>A (n.649+24T>A) c.580+24T>A (n.580+24T>A) | gnomAD v4 |
6 | g.25918464G>C | CA3663523 | SLC17A2 | c.649+23C>G (n.649+23C>G) c.580+23C>G (n.580+23C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25918464G= | CA1616810444 | SLC17A2 | c.649+23C= (n.649+23C=) c.580+23C= (n.580+23C=) | |
6 | g.25918464G>T | CA2677596655 | SLC17A2 | c.649+23C>A (n.649+23C>A) c.580+23C>A (n.580+23C>A) | gnomAD v4 |
6 | g.25918465G>A | CA2677596656 | SLC17A2 | c.649+22C>T (n.649+22C>T) c.580+22C>T (n.580+22C>T) | gnomAD v4 |
6 | g.25918465G>T | CA2677596657 | SLC17A2 | c.649+22C>A (n.649+22C>A) c.580+22C>A (n.580+22C>A) | gnomAD v4 |
6 | g.25918466A>G | CA2677596658 | SLC17A2 | c.649+21T>C (n.649+21T>C) c.580+21T>C (n.580+21T>C) | gnomAD v4 |
6 | g.25918467T>C | CA2677596659 | SLC17A2 | c.649+20A>G (n.649+20A>G) c.580+20A>G (n.580+20A>G) | gnomAD v4 |
6 | g.25918468T>G | CA2578548290 | SLC17A2 | c.649+19A>C (n.649+19A>C) c.580+19A>C (n.580+19A>C) | gnomAD v4 |
6 | g.25918470A>G | CA2677596660 | SLC17A2 | c.649+17T>C (n.649+17T>C) c.580+17T>C (n.580+17T>C) | gnomAD v4 |
6 | g.25918470A>T | CA2578548291 | SLC17A2 | c.649+17T>A (n.649+17T>A) c.580+17T>A (n.580+17T>A) | gnomAD v4 |
6 | g.25918471A>C | CA2578548292 | SLC17A2 | c.649+16T>G (n.649+16T>G) c.580+16T>G (n.580+16T>G) | |
6 | g.25918471A>G | CA2677596661 | SLC17A2 | c.649+16T>C (n.649+16T>C) c.580+16T>C (n.580+16T>C) | gnomAD v4 |
6 | g.25918472G>T | CA2677596662 | SLC17A2 | c.649+15C>A (n.649+15C>A) c.580+15C>A (n.580+15C>A) | gnomAD v4 |
6 | g.25918474G>C | CA3663524 | SLC17A2 | c.649+13C>G (n.649+13C>G) c.580+13C>G (n.580+13C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.25918474G= | CA1616810445 | SLC17A2 | c.649+13C= (n.649+13C=) c.580+13C= (n.580+13C=) | |
6 | g.25918474G>T | CA2677596663 | SLC17A2 | c.649+13C>A (n.649+13C>A) c.580+13C>A (n.580+13C>A) | gnomAD v4 |
6 | g.25918477del | CA2677596664 | SLC17A2 | c.649+12del (n.649+12del) c.580+12del (n.580+12del) | gnomAD v4 |
6 | g.25918476A>C | CA2740729563 | SLC17A2 | c.649+11T>G (n.649+11T>G) c.580+11T>G (n.580+11T>G) | |
6 | g.25918476A>G | CA2677596665 | SLC17A2 | c.649+11T>C (n.649+11T>C) c.580+11T>C (n.580+11T>C) | gnomAD v4 |
6 | g.25918477A= | CA1616810446 | SLC17A2 | c.649+10T= (n.649+10T=) c.580+10T= (n.580+10T=) | |
6 | g.25918477A>G | CA1087052654 | SLC17A2 | c.649+10T>C (n.649+10T>C) c.580+10T>C (n.580+10T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.25918478G>T | CA2677596666 | SLC17A2 | c.649+9C>A (n.649+9C>A) c.580+9C>A (n.580+9C>A) | gnomAD v4 |
6 | g.25918480G>A | CA1616810448 | SLC17A2 | c.649+7C>T (n.649+7C>T) c.580+7C>T (n.580+7C>T) | dbSNP |
6 | g.25918480G>C | CA2677596667 | SLC17A2 | c.649+7C>G (n.649+7C>G) c.580+7C>G (n.580+7C>G) | gnomAD v4 |
6 | g.25918480G= | CA1616810447 | SLC17A2 | c.649+7C= (n.649+7C=) c.580+7C= (n.580+7C=) | |
6 | g.25918480G>T | CA2677596668 | SLC17A2 | c.649+7C>A (n.649+7C>A) c.580+7C>A (n.580+7C>A) | gnomAD v4 |
6 | g.25918481A>G | CA2677596669 | SLC17A2 | c.649+6T>C (n.649+6T>C) c.580+6T>C (n.580+6T>C) | gnomAD v4 |
6 | g.25918482C>T | CA2677596670 | SLC17A2 | c.649+5G>A (n.649+5G>A) c.580+5G>A (n.580+5G>A) | gnomAD v4 |
6 | g.25918484C>A | CA565959713 | SLC17A2 | c.649+3G>T (n.649+3G>T) c.580+3G>T (n.580+3G>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25918484C= | CA1616810449 | SLC17A2 | c.649+3G= (n.649+3G=) c.580+3G= (n.580+3G=) | |
6 | g.25918484C>T | CA2677596671 | SLC17A2 | c.649+3G>A (n.649+3G>A) c.580+3G>A (n.580+3G>A) | gnomAD v4 |
6 | g.25918485A>C | CA363168747 | SLC17A2 | c.649+2T>G (n.649+2T>G) c.580+2T>G (n.580+2T>G) | |
6 | g.25918485A>G | CA363168750 | SLC17A2 | c.649+2T>C (n.649+2T>C) c.580+2T>C (n.580+2T>C) | |
6 | g.25918485A>T | CA363168753 | SLC17A2 | c.649+2T>A (n.649+2T>A) c.580+2T>A (n.580+2T>A) | |
6 | g.25918486C>A | CA363168756 | SLC17A2 | c.649+1G>T (n.649+1G>T) c.580+1G>T (n.580+1G>T) | |
6 | g.25918486C= | CA1616810450 | SLC17A2 | c.649+1G= (n.649+1G=) c.580+1G= (n.580+1G=) | |
6 | g.25918486C>G | CA363168758 | SLC17A2 | c.649+1G>C (n.649+1G>C) c.580+1G>C (n.580+1G>C) | |
6 | g.25918486C>T | CA3663525 | SLC17A2 | c.649+1G>A (n.649+1G>A) c.580+1G>A (n.580+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25918487C>A | CA363168765 | SLC17A2 | c.649G>T (p.Gly217Cys) c.580G>T (p.Gly194Cys) | |
6 | g.25918487C= | CA1616810451 | SLC17A2 | c.649G= (p.Gly217=) c.580G= (p.Gly194=) | |
6 | g.25918487C>G | CA363168764 | SLC17A2 | c.649G>C (p.Gly217Arg) c.580G>C (p.Gly194Arg) | |
6 | g.25918487C>T | CA363168762 | SLC17A2 | c.649G>A (p.Gly217Ser) c.580G>A (p.Gly194Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
6 | g.25918488A>C | CA363168769 | SLC17A2 | c.648T>G (p.Phe216Leu) c.579T>G (p.Phe193Leu) | gnomAD v4 |
6 | g.25918488A>G | CA448981138 | SLC17A2 | c.648T>C (p.Phe216=) c.579T>C (p.Phe193=) | gnomAD v4 |
6 | g.25918488A>T | CA363168770 | SLC17A2 | c.648T>A (p.Phe216Leu) c.579T>A (p.Phe193Leu) | |
6 | g.25918489A>C | CA363168771 | SLC17A2 | c.647T>G (p.Phe216Cys) c.578T>G (p.Phe193Cys) | |
6 | g.25918489A>G | CA363168772 | SLC17A2 | c.647T>C (p.Phe216Ser) c.578T>C (p.Phe193Ser) | |
6 | g.25918489A>T | CA363168773 | SLC17A2 | c.647T>A (p.Phe216Tyr) c.578T>A (p.Phe193Tyr) | |
6 | g.25918490A>C | CA363168774 | SLC17A2 | c.646T>G (p.Phe216Val) c.577T>G (p.Phe193Val) | |
6 | g.25918490A>G | CA363168775 | SLC17A2 | c.646T>C (p.Phe216Leu) c.577T>C (p.Phe193Leu) | COSMIC COSMIC |
6 | g.25918490A>T | CA363168776 | SLC17A2 | c.646T>A (p.Phe216Ile) c.577T>A (p.Phe193Ile) | gnomAD v4 |
6 | g.25918491del | CA2677596672 | SLC17A2 | c.645del (p.Phe216LeufsTer15) c.576del (p.Phe193LeufsTer15) | gnomAD v4 |
6 | g.25918491G>A | CA448981141 | SLC17A2 | c.645C>T (p.Ile215=) c.576C>T (p.Ile192=) | COSMIC COSMIC |
6 | g.25918491G>C | CA363168777 | SLC17A2 | c.645C>G (p.Ile215Met) c.576C>G (p.Ile192Met) | gnomAD v4 |
6 | g.25918491G= | CA1616810452 | SLC17A2 | c.645C= (p.Ile215=) c.576C= (p.Ile192=) | |
6 | g.25918491G>T | CA448981143 | SLC17A2 | c.645C>A (p.Ile215=) c.576C>A (p.Ile192=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25918492A>C | CA363168778 | SLC17A2 | c.644T>G (p.Ile215Ser) c.575T>G (p.Ile192Ser) | |
6 | g.25918492A>G | CA363168779 | SLC17A2 | c.644T>C (p.Ile215Thr) c.575T>C (p.Ile192Thr) | |
6 | g.25918492A>T | CA363168780 | SLC17A2 | c.644T>A (p.Ile215Asn) c.575T>A (p.Ile192Asn) | |
6 | g.25918493T>A | CA363168782 | SLC17A2 | c.643A>T (p.Ile215Phe) c.574A>T (p.Ile192Phe) | |
6 | g.25918493T>C | CA3663526 | SLC17A2 | c.643A>G (p.Ile215Val) c.574A>G (p.Ile192Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25918493T>G | CA363168781 | SLC17A2 | c.643A>C (p.Ile215Leu) c.574A>C (p.Ile192Leu) | |
6 | g.25918493T= | CA1616810453 | SLC17A2 | c.643A= (p.Ile215=) c.574A= (p.Ile192=) | |
6 | g.25918494G>A | CA448981146 | SLC17A2 | c.642C>T (p.Tyr214=) c.573C>T (p.Tyr191=) | |
6 | g.25918494G>C | CA363168783 | SLC17A2 | c.642C>G (p.Tyr214Ter) c.573C>G (p.Tyr191Ter) | |
6 | g.25918494G>T | CA363168786 | SLC17A2 | c.642C>A (p.Tyr214Ter) c.573C>A (p.Tyr191Ter) | gnomAD v4 |
6 | g.25918495T>A | CA363168789 | SLC17A2 | c.641A>T (p.Tyr214Phe) c.572A>T (p.Tyr191Phe) | |
6 | g.25918495T>C | CA363168795 | SLC17A2 | c.641A>G (p.Tyr214Cys) c.572A>G (p.Tyr191Cys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.25918495T>G | CA363168791 | SLC17A2 | c.641A>C (p.Tyr214Ser) c.572A>C (p.Tyr191Ser) | gnomAD v4 |
6 | g.25918495T= | CA1616810454 | SLC17A2 | c.641A= (p.Tyr214=) c.572A= (p.Tyr191=) | |
6 | g.25918496A>C | CA363168800 | SLC17A2 | c.640T>G (p.Tyr214Asp) c.571T>G (p.Tyr191Asp) | |
6 | g.25918496A>G | CA363168804 | SLC17A2 | c.640T>C (p.Tyr214His) c.571T>C (p.Tyr191His) | |
6 | g.25918496A>T | CA363168801 | SLC17A2 | c.640T>A (p.Tyr214Asn) c.571T>A (p.Tyr191Asn) | |
6 | g.25918497G>A | CA448981148 | SLC17A2 | c.639C>T (p.Phe213=) c.570C>T (p.Phe190=) | |
6 | g.25918497G>C | CA363168807 | SLC17A2 | c.639C>G (p.Phe213Leu) c.570C>G (p.Phe190Leu) | |
6 | g.25918497G>T | CA363168810 | SLC17A2 | c.639C>A (p.Phe213Leu) c.570C>A (p.Phe190Leu) | |
6 | g.25918498A>C | CA363168815 | SLC17A2 | c.638T>G (p.Phe213Cys) c.569T>G (p.Phe190Cys) | |
6 | g.25918498A>G | CA363168823 | SLC17A2 | c.638T>C (p.Phe213Ser) c.569T>C (p.Phe190Ser) | |
6 | g.25918498A>T | CA363168826 | SLC17A2 | c.638T>A (p.Phe213Tyr) c.569T>A (p.Phe190Tyr) | |
6 | g.25918499del | CA2677596673 | SLC17A2 | c.638del (p.Phe213SerfsTer18) c.569del (p.Phe190SerfsTer18) | gnomAD v4 |
6 | g.25918499A>C | CA363168829 | SLC17A2 | c.637T>G (p.Phe213Val) c.568T>G (p.Phe190Val) | |
6 | g.25918499A>G | CA363168832 | SLC17A2 | c.637T>C (p.Phe213Leu) c.568T>C (p.Phe190Leu) | |
6 | g.25918499A>T | CA363168833 | SLC17A2 | c.637T>A (p.Phe213Ile) c.568T>A (p.Phe190Ile) | |
6 | g.25918500G>A | CA448981154 | SLC17A2 | c.636C>T (p.Ile212=) c.567C>T (p.Ile189=) | COSMIC COSMIC |
6 | g.25918500G>C | CA363168834 | SLC17A2 | c.636C>G (p.Ile212Met) c.567C>G (p.Ile189Met) | |
6 | g.25918500G>T | CA448981152 | SLC17A2 | c.636C>A (p.Ile212=) c.567C>A (p.Ile189=) | |
6 | g.25918501A>C | CA363168836 | SLC17A2 | c.635T>G (p.Ile212Ser) c.566T>G (p.Ile189Ser) | |
6 | g.25918501A>G | CA363168839 | SLC17A2 | c.635T>C (p.Ile212Thr) c.566T>C (p.Ile189Thr) | |
6 | g.25918501A>T | CA363168842 | SLC17A2 | c.635T>A (p.Ile212Asn) c.566T>A (p.Ile189Asn) | |
6 | g.25918502T>A | CA363168847 | SLC17A2 | c.634A>T (p.Ile212Phe) c.565A>T (p.Ile189Phe) | |
6 | g.25918502T>C | CA363168849 | SLC17A2 | c.634A>G (p.Ile212Val) c.565A>G (p.Ile189Val) | |
6 | g.25918502T>G | CA363168852 | SLC17A2 | c.634A>C (p.Ile212Leu) c.565A>C (p.Ile189Leu) | |
6 | g.25918503A>C | CA363168855 | SLC17A2 | c.633T>G (p.Phe211Leu) c.564T>G (p.Phe188Leu) | |
6 | g.25918503A>G | CA448981156 | SLC17A2 | c.633T>C (p.Phe211=) c.564T>C (p.Phe188=) | |
6 | g.25918503A>T | CA363168858 | SLC17A2 | c.633T>A (p.Phe211Leu) c.564T>A (p.Phe188Leu) | |
6 | g.25918504A>C | CA363168862 | SLC17A2 | c.632T>G (p.Phe211Cys) c.563T>G (p.Phe188Cys) | |
6 | g.25918504A>G | CA363168865 | SLC17A2 | c.632T>C (p.Phe211Ser) c.563T>C (p.Phe188Ser) | |
6 | g.25918504A>T | CA363168867 | SLC17A2 | c.632T>A (p.Phe211Tyr) c.563T>A (p.Phe188Tyr) | |
6 | g.25918505A>C | CA363168873 | SLC17A2 | c.631T>G (p.Phe211Val) c.562T>G (p.Phe188Val) | |
6 | g.25918505A>G | CA363168877 | SLC17A2 | c.631T>C (p.Phe211Leu) c.562T>C (p.Phe188Leu) | |
6 | g.25918505A>T | CA363168880 | SLC17A2 | c.631T>A (p.Phe211Ile) c.562T>A (p.Phe188Ile) | |
6 | g.25918506A= | CA1616810455 | SLC17A2 | c.630T= (p.Pro210=) c.561T= (p.Pro187=) | |
6 | g.25918506A>C | CA448981158 | SLC17A2 | c.630T>G (p.Pro210=) c.561T>G (p.Pro187=) | |
6 | g.25918506A>G | CA448981159 | SLC17A2 | c.630T>C (p.Pro210=) c.561T>C (p.Pro187=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25918506A>T | CA448981160 | SLC17A2 | c.630T>A (p.Pro210=) c.561T>A (p.Pro187=) | |
6 | g.25918507G>A | CA363168883 | SLC17A2 | c.629C>T (p.Pro210Leu) c.560C>T (p.Pro187Leu) | COSMIC |
6 | g.25918507G>C | CA363168884 | SLC17A2 | c.629C>G (p.Pro210Arg) c.560C>G (p.Pro187Arg) | dbSNP gnomAD v4 |
6 | g.25918507G= | CA1616810456 | SLC17A2 | c.629C= (p.Pro210=) c.560C= (p.Pro187=) | |
6 | g.25918507G>T | CA363168888 | SLC17A2 | c.629C>A (p.Pro210His) c.560C>A (p.Pro187His) | |
6 | g.25918508G>A | CA363168894 | SLC17A2 | c.628C>T (p.Pro210Ser) c.559C>T (p.Pro187Ser) | |
6 | g.25918508G>C | CA363168898 | SLC17A2 | c.628C>G (p.Pro210Ala) c.559C>G (p.Pro187Ala) | |
6 | g.25918508G>T | CA363168901 | SLC17A2 | c.628C>A (p.Pro210Thr) c.559C>A (p.Pro187Thr) | |
6 | g.25918509C>A | CA363168905 | SLC17A2 | c.627G>T (p.Trp209Cys) c.558G>T (p.Trp186Cys) | gnomAD v4 |
6 | g.25918509C= | CA1616810457 | SLC17A2 | c.627G= (p.Trp209=) c.558G= (p.Trp186=) | |
6 | g.25918509C>G | CA363168910 | SLC17A2 | c.627G>C (p.Trp209Cys) c.558G>C (p.Trp186Cys) | |
6 | g.25918509C>T | CA136234841 | SLC17A2 | c.627G>A (p.Trp209Ter) c.558G>A (p.Trp186Ter) | dbSNP gnomAD v4 |
6 | g.25918510C>A | CA363168919 | SLC17A2 | c.626G>T (p.Trp209Leu) c.557G>T (p.Trp186Leu) | |
6 | g.25918510C>G | CA363168920 | SLC17A2 | c.626G>C (p.Trp209Ser) c.557G>C (p.Trp186Ser) | |
6 | g.25918510C>T | CA363168923 | SLC17A2 | c.626G>A (p.Trp209Ter) c.557G>A (p.Trp186Ter) | |
6 | g.25918511A>C | CA363168928 | SLC17A2 | c.625T>G (p.Trp209Gly) c.556T>G (p.Trp186Gly) | |
6 | g.25918511A>G | CA363168930 | SLC17A2 | c.625T>C (p.Trp209Arg) c.556T>C (p.Trp186Arg) | |
6 | g.25918511A>T | CA363168932 | SLC17A2 | c.625T>A (p.Trp209Arg) c.556T>A (p.Trp186Arg) | |
6 | g.25918512G>A | CA448981163 | SLC17A2 | c.624C>T (p.Ser208=) c.555C>T (p.Ser185=) | |
6 | g.25918512G>C | CA363168936 | SLC17A2 | c.624C>G (p.Ser208Arg) c.555C>G (p.Ser185Arg) | |
6 | g.25918512G>T | CA363168940 | SLC17A2 | c.624C>A (p.Ser208Arg) c.555C>A (p.Ser185Arg) | gnomAD v4 |
6 | g.25918513C>A | CA363168944 | SLC17A2 | c.623G>T (p.Ser208Ile) c.554G>T (p.Ser185Ile) | |
6 | g.25918513C= | CA1616810458 | SLC17A2 | c.623G= (p.Ser208=) c.554G= (p.Ser185=) | |
6 | g.25918513C>G | CA363168947 | SLC17A2 | c.623G>C (p.Ser208Thr) c.554G>C (p.Ser185Thr) | |
6 | g.25918513C>T | CA3663527 | SLC17A2 | c.623G>A (p.Ser208Asn) c.554G>A (p.Ser185Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.25918514T>A | CA363168961 | SLC17A2 | c.622A>T (p.Ser208Cys) c.553A>T (p.Ser185Cys) | |
6 | g.25918514T>C | CA363168956 | SLC17A2 | c.622A>G (p.Ser208Gly) c.553A>G (p.Ser185Gly) | |
6 | g.25918514T>G | CA363168953 | SLC17A2 | c.622A>C (p.Ser208Arg) c.553A>C (p.Ser185Arg) | |
6 | g.25918515C>A | CA363168965 | SLC17A2 | c.621G>T (p.Leu207Phe) c.552G>T (p.Leu184Phe) | |
6 | g.25918515C= | CA1616810459 | SLC17A2 | c.621G= (p.Leu207=) c.552G= (p.Leu184=) | |
6 | g.25918515C>G | CA363168967 | SLC17A2 | c.621G>C (p.Leu207Phe) c.552G>C (p.Leu184Phe) | |
6 | g.25918515C>T | CA3663528 | SLC17A2 | c.621G>A (p.Leu207=) c.552G>A (p.Leu184=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25918516A>C | CA363168975 | SLC17A2 | c.620T>G (p.Leu207Trp) c.551T>G (p.Leu184Trp) | gnomAD v4 |
6 | g.25918516A>G | CA363168976 | SLC17A2 | c.620T>C (p.Leu207Ser) c.551T>C (p.Leu184Ser) | |
6 | g.25918516A>T | CA363168980 | SLC17A2 | c.620T>A (p.Leu207Ter) c.551T>A (p.Leu184Ter) | |
6 | g.25918517A>C | CA363168984 | SLC17A2 | c.619T>G (p.Leu207Val) c.550T>G (p.Leu184Val) | |
6 | g.25918517A>G | CA448981168 | SLC17A2 | c.619T>C (p.Leu207=) c.550T>C (p.Leu184=) | |
6 | g.25918517A>T | CA363168987 | SLC17A2 | c.619T>A (p.Leu207Met) c.550T>A (p.Leu184Met) | |
6 | g.25918518G>A | CA448981171 | SLC17A2 | c.618C>T (p.Ala206=) c.549C>T (p.Ala183=) | gnomAD v4 |
6 | g.25918518G>C | CA448981169 | SLC17A2 | c.618C>G (p.Ala206=) c.549C>G (p.Ala183=) | |
6 | g.25918518G>T | CA448981170 | SLC17A2 | c.618C>A (p.Ala206=) c.549C>A (p.Ala183=) | |
6 | g.25918519G>A | CA363168990 | SLC17A2 | c.617C>T (p.Ala206Val) c.548C>T (p.Ala183Val) | |
6 | g.25918519G>C | CA363168994 | SLC17A2 | c.617C>G (p.Ala206Gly) c.548C>G (p.Ala183Gly) | gnomAD v4 |
6 | g.25918519G>T | CA363168997 | SLC17A2 | c.617C>A (p.Ala206Asp) c.548C>A (p.Ala183Asp) | |
6 | g.25918520C>A | CA363169005 | SLC17A2 | c.616G>T (p.Ala206Ser) c.547G>T (p.Ala183Ser) | gnomAD v4 |
6 | g.25918520C>G | CA363169003 | SLC17A2 | c.616G>C (p.Ala206Pro) c.547G>C (p.Ala183Pro) | |
6 | g.25918520C>T | CA363169000 | SLC17A2 | c.616G>A (p.Ala206Thr) c.547G>A (p.Ala183Thr) | |
6 | g.25918521C>A | CA3663529 | SLC17A2 | c.615G>T (p.Gln205His) c.546G>T (p.Gln182His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.25918521C= | CA1616810460 | SLC17A2 | c.615G= (p.Gln205=) c.546G= (p.Gln182=) | |
6 | g.25918521C>G | CA363169013 | SLC17A2 | c.615G>C (p.Gln205His) c.546G>C (p.Gln182His) | |
6 | g.25918521C>T | CA448981175 | SLC17A2 | c.615G>A (p.Gln205=) c.546G>A (p.Gln182=) | |
6 | g.25918522T>A | CA363169018 | SLC17A2 | c.614A>T (p.Gln205Leu) c.545A>T (p.Gln182Leu) | |
6 | g.25918522T>C | CA363169021 | SLC17A2 | c.614A>G (p.Gln205Arg) c.545A>G (p.Gln182Arg) | |
6 | g.25918522T>G | CA363169024 | SLC17A2 | c.614A>C (p.Gln205Pro) c.545A>C (p.Gln182Pro) | |
6 | g.25918523G>A | CA363169028 | SLC17A2 | c.613C>T (p.Gln205Ter) c.544C>T (p.Gln182Ter) | |
6 | g.25918523G>C | CA363169031 | SLC17A2 | c.613C>G (p.Gln205Glu) c.544C>G (p.Gln182Glu) | |
6 | g.25918523G>T | CA363169034 | SLC17A2 | c.613C>A (p.Gln205Lys) c.544C>A (p.Gln182Lys) | |
6 | g.25918524T>A | CA448981177 | SLC17A2 | c.612A>T (p.Ser204=) c.543A>T (p.Ser181=) | COSMIC |
6 | g.25918524T>C | CA448981178 | SLC17A2 | c.612A>G (p.Ser204=) c.543A>G (p.Ser181=) | |
6 | g.25918524T>G | CA448981180 | SLC17A2 | c.612A>C (p.Ser204=) c.543A>C (p.Ser181=) | gnomAD v4 |
6 | g.25918525G>A | CA363169038 | SLC17A2 | c.611C>T (p.Ser204Leu) c.542C>T (p.Ser181Leu) | |
6 | g.25918525G>C | CA363169043 | SLC17A2 | c.611C>G (p.Ser204Ter) c.542C>G (p.Ser181Ter) | |
6 | g.25918525G>T | CA363169041 | SLC17A2 | c.611C>A (p.Ser204Ter) c.542C>A (p.Ser181Ter) | |
6 | g.25918526A>C | CA363169047 | SLC17A2 | c.610T>G (p.Ser204Ala) c.541T>G (p.Ser181Ala) | |
6 | g.25918526A>G | CA363169049 | SLC17A2 | c.610T>C (p.Ser204Pro) c.541T>C (p.Ser181Pro) | |
6 | g.25918526A>T | CA363169053 | SLC17A2 | c.610T>A (p.Ser204Thr) c.541T>A (p.Ser181Thr) | |
6 | g.25918527G>A | CA448981183 | SLC17A2 | c.609C>T (p.Ile203=) c.540C>T (p.Ile180=) | |
6 | g.25918527G>C | CA363169058 | SLC17A2 | c.609C>G (p.Ile203Met) c.540C>G (p.Ile180Met) | |
6 | g.25918527G>T | CA448981182 | SLC17A2 | c.609C>A (p.Ile203=) c.540C>A (p.Ile180=) | |
6 | g.25918528A>C | CA363169062 | SLC17A2 | c.608T>G (p.Ile203Ser) c.539T>G (p.Ile180Ser) | |
6 | g.25918528A>G | CA363169068 | SLC17A2 | c.608T>C (p.Ile203Thr) c.539T>C (p.Ile180Thr) | |
6 | g.25918528A>T | CA363169065 | SLC17A2 | c.608T>A (p.Ile203Asn) c.539T>A (p.Ile180Asn) | |
6 | g.25918529T>A | CA363169072 | SLC17A2 | c.607A>T (p.Ile203Phe) c.538A>T (p.Ile180Phe) | |
6 | g.25918529T>C | CA363169074 | SLC17A2 | c.607A>G (p.Ile203Val) c.538A>G (p.Ile180Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.25918529T>G | CA363169075 | SLC17A2 | c.607A>C (p.Ile203Leu) c.538A>C (p.Ile180Leu) | |
6 | g.25918529T= | CA1616810461 | SLC17A2 | c.607A= (p.Ile203=) c.538A= (p.Ile180=) | |
6 | g.25918530del | CA2677596674 | SLC17A2 | c.607del (p.Ile203SerfsTer5) c.538del (p.Ile180SerfsTer5) | gnomAD v4 |
6 | g.25918530T>A | CA448981186 | SLC17A2 | c.606A>T (p.Leu202=) c.537A>T (p.Leu179=) | |
6 | g.25918530T>C | CA448981188 | SLC17A2 | c.606A>G (p.Leu202=) c.537A>G (p.Leu179=) | gnomAD v4 |
6 | g.25918530T>G | CA448981190 | SLC17A2 | c.606A>C (p.Leu202=) c.537A>C (p.Leu179=) | |
6 | g.25918531A= | CA1616810462 | SLC17A2 | c.605T= (p.Leu202=) c.536T= (p.Leu179=) | |
6 | g.25918531A>C | CA363169081 | SLC17A2 | c.605T>G (p.Leu202Arg) c.536T>G (p.Leu179Arg) | |
6 | g.25918531A>G | CA363169089 | SLC17A2 | c.605T>C (p.Leu202Pro) c.536T>C (p.Leu179Pro) | dbSNP gnomAD v4 |
6 | g.25918531A>T | CA363169091 | SLC17A2 | c.605T>A (p.Leu202Gln) c.536T>A (p.Leu179Gln) | |
6 | g.25918532G>A | CA448981192 | SLC17A2 | c.604C>T (p.Leu202=) c.535C>T (p.Leu179=) | |
6 | g.25918532G>C | CA363169093 | SLC17A2 | c.604C>G (p.Leu202Val) c.535C>G (p.Leu179Val) | |
6 | g.25918532G>T | CA363169096 | SLC17A2 | c.604C>A (p.Leu202Ile) c.535C>A (p.Leu179Ile) | COSMIC COSMIC |
6 | g.25918533T>A | CA448981193 | SLC17A2 | c.603A>T (p.Gly201=) c.534A>T (p.Gly178=) | |
6 | g.25918533T>C | CA448981194 | SLC17A2 | c.603A>G (p.Gly201=) c.534A>G (p.Gly178=) | |
6 | g.25918533T>G | CA448981195 | SLC17A2 | c.603A>C (p.Gly201=) c.534A>C (p.Gly178=) | |
6 | g.25918533T= | CA1616810463 | SLC17A2 | c.603A= (p.Gly201=) c.534A= (p.Gly178=) | |
6 | g.25918534C>A | CA3663531 | SLC17A2 | c.602G>T (p.Gly201Val) c.533G>T (p.Gly178Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25918534C= | CA1616810464 | SLC17A2 | c.602G= (p.Gly201=) c.533G= (p.Gly178=) | |
6 | g.25918534C>G | CA3663530 | SLC17A2 | c.602G>C (p.Gly201Ala) c.533G>C (p.Gly178Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25918534C>T | CA363169103 | SLC17A2 | c.602G>A (p.Gly201Glu) c.533G>A (p.Gly178Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25918539dup | CA823427526 | SLC17A2 | c.602dup (p.Leu202ThrfsTer17) c.533dup (p.Leu179ThrfsTer17) | dbSNP gnomAD v4 |
6 | g.25918539del | CA448981197 | SLC17A2 | c.602del (p.Gly201AspfsTer2) c.533del (p.Gly178AspfsTer2) | COSMIC COSMIC COSMIC |
6 | g.25918535C>A | CA363169109 | SLC17A2 | c.601G>T (p.Gly201Ter) c.532G>T (p.Gly178Ter) | |
6 | g.25918535C>G | CA363169113 | SLC17A2 | c.601G>C (p.Gly201Arg) c.532G>C (p.Gly178Arg) | |
6 | g.25918535C>T | CA363169111 | SLC17A2 | c.601G>A (p.Gly201Arg) c.532G>A (p.Gly178Arg) | |
6 | g.25918536C>A | CA448981198 | SLC17A2 | c.600G>T (p.Gly200=) c.531G>T (p.Gly177=) | |
6 | g.25918536C= | CA1616810465 | SLC17A2 | c.600G= (p.Gly200=) c.531G= (p.Gly177=) | |
6 | g.25918536C>G | CA448981200 | SLC17A2 | c.600G>C (p.Gly200=) c.531G>C (p.Gly177=) | |
6 | g.25918536C>T | CA448981202 | SLC17A2 | c.600G>A (p.Gly200=) c.531G>A (p.Gly177=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.25918537C>A | CA363169118 | SLC17A2 | c.599G>T (p.Gly200Val) c.530G>T (p.Gly177Val) | |
6 | g.25918537C>G | CA363169120 | SLC17A2 | c.599G>C (p.Gly200Ala) c.530G>C (p.Gly177Ala) | |
6 | g.25918537C>T | CA363169122 | SLC17A2 | c.599G>A (p.Gly200Glu) c.530G>A (p.Gly177Glu) |