Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.49612311del | CA2679056660 | RHAG | c.945+89del (n.945+89del) | gnomAD v4 |
6 | g.49612312C>T | CA2578712553 | RHAG | c.945+85G>A (n.945+85G>A) | dbSNP |
6 | g.49612312_49612314delinsCTT | CA1627468777 | RHAG | c.945+83_945+85delinsAAG (n.945+83_945+85delinsAAG) | |
6 | g.49612313_49612314del | CA1627468778 | RHAG | c.945+83_945+84del (n.945+83_945+84del) | dbSNP |
6 | g.49612314T>C | CA1088823188 | RHAG | c.945+83A>G (n.945+83A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49612314T= | CA1627468780 | RHAG | c.945+83A= (n.945+83A=) | |
6 | g.49612319G>A | CA2578712554 | RHAG | c.945+78C>T (n.945+78C>T) | gnomAD v4 |
6 | g.49612319G>T | CA2679056661 | RHAG | c.945+78C>A (n.945+78C>A) | gnomAD v4 |
6 | g.49612319_49612320delinsGC | CA1627468786 | RHAG | c.945+77_945+78delinsGC (n.945+77_945+78delinsGC) | |
6 | g.49612320del | CA1627468798 | RHAG | c.945+77del (n.945+77del) | dbSNP |
6 | g.49612320C>A | CA1088823192 | RHAG | c.945+77G>T (n.945+77G>T) | dbSNP |
6 | g.49612320C= | CA1627468796 | RHAG | c.945+77G= (n.945+77G=) | |
6 | g.49612320_49612321delinsCT | CA2740090049 | RHAG | c.945+76_945+77delinsAG (n.945+76_945+77delinsAG) | |
6 | g.49612320_49612322delinsCTT | CA1627468795 | RHAG | c.945+75_945+77delinsAAG (n.945+75_945+77delinsAAG) | |
6 | g.49612321T>A | CA1627468810 | RHAG | c.945+76A>T (n.945+76A>T) | dbSNP |
6 | g.49612321T>C | CA1627468814 | RHAG | c.945+76A>G (n.945+76A>G) | dbSNP gnomAD v4 |
6 | g.49612321T= | CA1627468808 | RHAG | c.945+76A= (n.945+76A=) | |
6 | g.49612327dup | CA138843467 | RHAG | c.945+76dup (n.945+76dup) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49612327del | CA138843464 | RHAG | c.945+76del (n.945+76del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.49612326_49612327del | CA1627468805 | RHAG | c.945+75_945+76del (n.945+75_945+76del) | dbSNP |
6 | g.49612322T>G | CA2679056662 | RHAG | c.945+75A>C (n.945+75A>C) | gnomAD v4 |
6 | g.49612324T>A | CA2578712555 | RHAG | c.945+73A>T (n.945+73A>T) | |
6 | g.49612324T>C | CA2679056663 | RHAG | c.945+73A>G (n.945+73A>G) | gnomAD v4 |
6 | g.49612325T>A | CA2578712556 | RHAG | c.945+72A>T (n.945+72A>T) | gnomAD v4 |
6 | g.49612325T>G | CA2679056664 | RHAG | c.945+72A>C (n.945+72A>C) | gnomAD v4 |
6 | g.49612326T>G | CA1627468819 | RHAG | c.945+71A>C (n.945+71A>C) | dbSNP gnomAD v4 |
6 | g.49612326T= | CA1627468822 | RHAG | c.945+71A= (n.945+71A=) | |
6 | g.49612327T>C | CA2578712557 | RHAG | c.945+70A>G (n.945+70A>G) | |
6 | g.49612328C>T | CA2679056665 | RHAG | c.945+69G>A (n.945+69G>A) | gnomAD v4 |
6 | g.49612329T>C | CA2679056666 | RHAG | c.945+68A>G (n.945+68A>G) | gnomAD v4 |
6 | g.49612330G>A | CA2578712558 | RHAG | c.945+67C>T (n.945+67C>T) | |
6 | g.49612330G>T | CA2578712559 | RHAG | c.945+67C>A (n.945+67C>A) | gnomAD v4 |
6 | g.49612331del | CA2679056667 | RHAG | c.945+66del (n.945+66del) | gnomAD v4 |
6 | g.49612331C>T | CA2679056668 | RHAG | c.945+66G>A (n.945+66G>A) | gnomAD v4 |
6 | g.49612332T>G | CA2679056669 | RHAG | c.945+65A>C (n.945+65A>C) | gnomAD v4 |
6 | g.49612333G>A | CA2578712561 | RHAG | c.945+64C>T (n.945+64C>T) | gnomAD v4 |
6 | g.49612333G>T | CA2679056670 | RHAG | c.945+64C>A (n.945+64C>A) | gnomAD v4 |
6 | g.49612334del | CA2578712560 | RHAG | c.945+64del (n.945+64del) | gnomAD v4 |
6 | g.49612334G>T | CA2679056671 | RHAG | c.945+63C>A (n.945+63C>A) | gnomAD v4 |
6 | g.49612336G>A | CA825505407 | RHAG | c.945+61C>T (n.945+61C>T) | dbSNP gnomAD v4 |
6 | g.49612336G= | CA1627468825 | RHAG | c.945+61C= (n.945+61C=) | |
6 | g.49612336G>T | CA2578712562 | RHAG | c.945+61C>A (n.945+61C>A) | gnomAD v4 |
6 | g.49612338del | CA2679056672 | RHAG | c.945+61del (n.945+61del) | gnomAD v4 |
6 | g.49612337G>T | CA2578712563 | RHAG | c.945+60C>A (n.945+60C>A) | gnomAD v4 |
6 | g.49612338G>A | CA825505411 | RHAG | c.945+59C>T (n.945+59C>T) | dbSNP gnomAD v4 |
6 | g.49612338G>C | CA2679056673 | RHAG | c.945+59C>G (n.945+59C>G) | gnomAD v4 |
6 | g.49612338G= | CA1627468830 | RHAG | c.945+59C= (n.945+59C=) | |
6 | g.49612338G>T | CA2578712564 | RHAG | c.945+59C>A (n.945+59C>A) | gnomAD v4 |
6 | g.49612339A= | CA1627468833 | RHAG | c.945+58T= (n.945+58T=) | |
6 | g.49612339A>T | CA1088823197 | RHAG | c.945+58T>A (n.945+58T>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49612340C= | CA1627468839 | RHAG | c.945+57G= (n.945+57G=) | |
6 | g.49612340C>T | CA1627468840 | RHAG | c.945+57G>A (n.945+57G>A) | dbSNP gnomAD v4 |
6 | g.49612341A= | CA1627468843 | RHAG | c.945+56T= (n.945+56T=) | |
6 | g.49612341A>G | CA138843474 | RHAG | c.945+56T>C (n.945+56T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49612341_49612342del | CA2679056674 | RHAG | c.945+55_945+56del (n.945+55_945+56del) | gnomAD v4 |
6 | g.49612342T>C | CA138843486 | RHAG | c.945+55A>G (n.945+55A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49612342T= | CA1627468847 | RHAG | c.945+55A= (n.945+55A=) | |
6 | g.49612343G>A | CA2578712565 | RHAG | c.945+54C>T (n.945+54C>T) | |
6 | g.49612343G>T | CA2679056675 | RHAG | c.945+54C>A (n.945+54C>A) | gnomAD v4 |
6 | g.49612344T>G | CA138843490 | RHAG | c.945+53A>C (n.945+53A>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49612344T= | CA1627468851 | RHAG | c.945+53A= (n.945+53A=) | |
6 | g.49612345G>A | CA1627468853 | RHAG | c.945+52C>T (n.945+52C>T) | dbSNP gnomAD v4 |
6 | g.49612345G= | CA1627468852 | RHAG | c.945+52C= (n.945+52C=) | |
6 | g.49612345G>T | CA2679056676 | RHAG | c.945+52C>A (n.945+52C>A) | gnomAD v4 |
6 | g.49612346A= | CA1627468854 | RHAG | c.945+51T= (n.945+51T=) | |
6 | g.49612346A>G | CA566937599 | RHAG | c.945+51T>C (n.945+51T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.49612347G= | CA1627468856 | RHAG | c.945+50C= (n.945+50C=) | |
6 | g.49612347G>T | CA2679056677 | RHAG | c.945+50C>A (n.945+50C>A) | gnomAD v4 |
6 | g.49612353dup | CA566937603 | RHAG | c.945+49dup (n.945+49dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49612353del | CA2679056678 | RHAG | c.945+49del (n.945+49del) | gnomAD v4 |
6 | g.49612349A= | CA1627468867 | RHAG | c.945+48T= (n.945+48T=) | |
6 | g.49612349A>G | CA3847775 | RHAG | c.945+48T>C (n.945+48T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.49612349A>T | CA1088823205 | RHAG | c.945+48T>A (n.945+48T>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49612351A= | CA1627468868 | RHAG | c.945+46T= (n.945+46T=) | |
6 | g.49612351A>C | CA1627468869 | RHAG | c.945+46T>G (n.945+46T>G) | dbSNP |
6 | g.49612351A>G | CA3847776 | RHAG | c.945+46T>C (n.945+46T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49612353A>G | CA2679056679 | RHAG | c.945+44T>C (n.945+44T>C) | gnomAD v4 |
6 | g.49612354G>A | CA138843513 | RHAG | c.945+43C>T (n.945+43C>T) | dbSNP gnomAD v4 |
6 | g.49612354G= | CA1627468874 | RHAG | c.945+43C= (n.945+43C=) | |
6 | g.49612354G>T | CA1627468893 | RHAG | c.945+43C>A (n.945+43C>A) | dbSNP gnomAD v4 |
6 | g.49612355G>A | CA2578712566 | RHAG | c.945+42C>T (n.945+42C>T) | |
6 | g.49612356T>A | CA2679056680 | RHAG | c.945+41A>T (n.945+41A>T) | gnomAD v4 |
6 | g.49612357G>A | CA2679056681 | RHAG | c.945+40C>T (n.945+40C>T) | gnomAD v4 |
6 | g.49612357G>T | CA2679056682 | RHAG | c.945+40C>A (n.945+40C>A) | gnomAD v4 |
6 | g.49612358C>A | CA3847777 | RHAG | c.945+39G>T (n.945+39G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49612358C= | CA1627468894 | RHAG | c.945+39G= (n.945+39G=) | |
6 | g.49612358C>T | CA566937606 | RHAG | c.945+39G>A (n.945+39G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.49612361A= | CA1627468895 | RHAG | c.945+36T= (n.945+36T=) | |
6 | g.49612361A>G | CA1088823211 | RHAG | c.945+36T>C (n.945+36T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49612361A>T | CA2679056683 | RHAG | c.945+36T>A (n.945+36T>A) | gnomAD v4 |
6 | g.49612362T>G | CA3847778 | RHAG | c.945+35A>C (n.945+35A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49612362T= | CA1627468896 | RHAG | c.945+35A= (n.945+35A=) | |
6 | g.49612364C>A | CA2679056684 | RHAG | c.945+33G>T (n.945+33G>T) | gnomAD v4 |
6 | g.49612368G>A | CA3847779 | RHAG | c.945+29C>T (n.945+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49612368G= | CA1627468897 | RHAG | c.945+29C= (n.945+29C=) | |
6 | g.49612371del | CA2578712567 | RHAG | c.945+28del (n.945+28del) | |
6 | g.49612370T>C | CA825505425 | RHAG | c.945+27A>G (n.945+27A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49612370T= | CA1627468898 | RHAG | c.945+27A= (n.945+27A=) | |
6 | g.49612372G>C | CA825505430 | RHAG | c.945+25C>G (n.945+25C>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49612372G= | CA1627468903 | RHAG | c.945+25C= (n.945+25C=) | |
6 | g.49612372G>T | CA1088823216 | RHAG | c.945+25C>A (n.945+25C>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49612373A= | CA1627468906 | RHAG | c.945+24T= (n.945+24T=) | |
6 | g.49612373A>C | CA1627468907 | RHAG | c.945+24T>G (n.945+24T>G) | dbSNP gnomAD v4 |
6 | g.49612375T>G | CA3847780 | RHAG | c.945+22A>C (n.945+22A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49612375T= | CA1627468908 | RHAG | c.945+22A= (n.945+22A=) | |
6 | g.49612376C= | CA1627468909 | RHAG | c.945+21G= (n.945+21G=) | |
6 | g.49612376C>G | CA1627468911 | RHAG | c.945+21G>C (n.945+21G>C) | dbSNP gnomAD v4 |
6 | g.49612376C>T | CA2679056686 | RHAG | c.945+21G>A (n.945+21G>A) | gnomAD v4 |
6 | g.49612376_49612381del | CA2679056685 | RHAG | c.945+16_945+21del (n.945+16_945+21del) | gnomAD v4 |
6 | g.49612377A>G | CA2578712568 | RHAG | c.945+20T>C (n.945+20T>C) | |
6 | g.49612379A>G | CA2679056687 | RHAG | c.945+18T>C (n.945+18T>C) | gnomAD v4 |
6 | g.49612379A>T | CA2679056688 | RHAG | c.945+18T>A (n.945+18T>A) | gnomAD v4 |
6 | g.49612380A>T | CA2679056689 | RHAG | c.945+17T>A (n.945+17T>A) | gnomAD v4 |
6 | g.49612381C>A | CA2679056690 | RHAG | c.945+16G>T (n.945+16G>T) | gnomAD v4 |
6 | g.49612381C= | CA1627468916 | RHAG | c.945+16G= (n.945+16G=) | |
6 | g.49612381C>T | CA3847781 | RHAG | c.945+16G>A (n.945+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49612382A= | CA1627468920 | RHAG | c.945+15T= (n.945+15T=) | |
6 | g.49612382A>C | CA2679056691 | RHAG | c.945+15T>G (n.945+15T>G) | gnomAD v4 |
6 | g.49612382A>G | CA138843557 | RHAG | c.945+15T>C (n.945+15T>C) | dbSNP gnomAD v4 |
6 | g.49612383T>G | CA2679056692 | RHAG | c.945+14A>C (n.945+14A>C) | gnomAD v4 |
6 | g.49612387_49612389del | CA2679056693 | RHAG | c.945+11_945+13del (n.945+11_945+13del) | gnomAD v4 |
6 | g.49612386G>A | CA2578712569 | RHAG | c.945+11C>T (n.945+11C>T) | |
6 | g.49612386G>C | CA3847782 | RHAG | c.945+11C>G (n.945+11C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49612386G= | CA1627468924 | RHAG | c.945+11C= (n.945+11C=) | |
6 | g.49612389G>A | CA566937625 | RHAG | c.945+8C>T (n.945+8C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.49612389G= | CA1627468925 | RHAG | c.945+8C= (n.945+8C=) | |
6 | g.49612390T>C | CA2679056694 | RHAG | c.945+7A>G (n.945+7A>G) | gnomAD v4 |
6 | g.49612395A>C | CA364398057 | RHAG | c.945+2T>G (n.945+2T>G) | |
6 | g.49612395A>G | CA364398060 | RHAG | c.945+2T>C (n.945+2T>C) | |
6 | g.49612395A>T | CA364398061 | RHAG | c.945+2T>A (n.945+2T>A) | |
6 | g.49612396C>A | CA364398065 | RHAG | c.945+1G>T (n.945+1G>T) | |
6 | g.49612396C>G | CA364398066 | RHAG | c.945+1G>C (n.945+1G>C) | |
6 | g.49612396C>T | CA364398068 | RHAG | c.945+1G>A (n.945+1G>A) | |
6 | g.49612397A>C | CA450401459 | RHAG | c.945T>G (p.Thr315=) | |
6 | g.49612397A>G | CA450401458 | RHAG | c.945T>C (p.Thr315=) | |
6 | g.49612397A>T | CA450401457 | RHAG | c.945T>A (p.Thr315=) | |
6 | g.49612398G>A | CA364398071 | RHAG | c.944C>T (p.Thr315Ile) | |
6 | g.49612398G>C | CA364398074 | RHAG | c.944C>G (p.Thr315Ser) | |
6 | g.49612398G>T | CA364398077 | RHAG | c.944C>A (p.Thr315Asn) | |
6 | g.49612399T>A | CA364398084 | RHAG | c.943A>T (p.Thr315Ser) | |
6 | g.49612399T>C | CA364398081 | RHAG | c.943A>G (p.Thr315Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49612399T>G | CA364398080 | RHAG | c.943A>C (p.Thr315Pro) | |
6 | g.49612399T= | CA1627468926 | RHAG | c.943A= (p.Thr315=) | |
6 | g.49612400C>A | CA450401460 | RHAG | c.942G>T (p.Leu314=) | gnomAD v4 |
6 | g.49612400C>G | CA450401463 | RHAG | c.942G>C (p.Leu314=) | gnomAD v4 |
6 | g.49612400C>T | CA450401461 | RHAG | c.942G>A (p.Leu314=) | |
6 | g.49612401A>C | CA364398085 | RHAG | c.941T>G (p.Leu314Arg) | |
6 | g.49612401A>G | CA364398087 | RHAG | c.941T>C (p.Leu314Pro) | |
6 | g.49612401A>T | CA364398088 | RHAG | c.941T>A (p.Leu314Gln) | |
6 | g.49612402G>A | CA450401464 | RHAG | c.940C>T (p.Leu314=) | |
6 | g.49612402G>C | CA364398092 | RHAG | c.940C>G (p.Leu314Val) | |
6 | g.49612402G>T | CA364398094 | RHAG | c.940C>A (p.Leu314Met) | |
6 | g.49612403G>A | CA450401465 | RHAG | c.939C>T (p.Phe313=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49612403G>C | CA364398096 | RHAG | c.939C>G (p.Phe313Leu) | |
6 | g.49612403G= | CA1627468929 | RHAG | c.939C= (p.Phe313=) | |
6 | g.49612403G>T | CA364398099 | RHAG | c.939C>A (p.Phe313Leu) | |
6 | g.49612404A= | CA1627468934 | RHAG | c.938T= (p.Phe313=) | |
6 | g.49612404A>C | CA364398106 | RHAG | c.938T>G (p.Phe313Cys) | |
6 | g.49612404A>G | CA3847783 | RHAG | c.938T>C (p.Phe313Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49612404A>T | CA364398104 | RHAG | c.938T>A (p.Phe313Tyr) | |
6 | g.49612405A= | CA1627468940 | RHAG | c.937T= (p.Phe313=) | |
6 | g.49612405A>C | CA364398109 | RHAG | c.937T>G (p.Phe313Val) | dbSNP |
6 | g.49612405A>G | CA364398111 | RHAG | c.937T>C (p.Phe313Leu) | gnomAD v4 |
6 | g.49612405A>T | CA364398112 | RHAG | c.937T>A (p.Phe313Ile) | |
6 | g.49612406C>A | CA364398115 | RHAG | c.936G>T (p.Lys312Asn) | |
6 | g.49612406C= | CA1627468947 | RHAG | c.936G= (p.Lys312=) | |
6 | g.49612406C>G | CA364398117 | RHAG | c.936G>C (p.Lys312Asn) | |
6 | g.49612406C>T | CA3847784 | RHAG | c.936G>A (p.Lys312=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49612407T>A | CA364398120 | RHAG | c.935A>T (p.Lys312Met) | |
6 | g.49612407T>C | CA364398125 | RHAG | c.935A>G (p.Lys312Arg) | dbSNP |
6 | g.49612407T>G | CA364398122 | RHAG | c.935A>C (p.Lys312Thr) | gnomAD v4 |
6 | g.49612407T= | CA1627468952 | RHAG | c.935A= (p.Lys312=) | |
6 | g.49612408T>A | CA364398127 | RHAG | c.934A>T (p.Lys312Ter) | |
6 | g.49612408T>C | CA3847785 | RHAG | c.934A>G (p.Lys312Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49612408T>G | CA364398130 | RHAG | c.934A>C (p.Lys312Gln) | |
6 | g.49612408T= | CA1627468954 | RHAG | c.934A= (p.Lys312=) | |
6 | g.49612409G>A | CA3847786 | RHAG | c.933C>T (p.Tyr311=) n.623C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49612409G>C | CA3847787 | RHAG | c.933C>G (p.Tyr311Ter) n.623C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49612409G= | CA1627468957 | RHAG | c.933C= (p.Tyr311=) n.623C= | |
6 | g.49612409G>T | CA364398136 | RHAG | c.933C>A (p.Tyr311Ter) n.623C>A |