Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50625887A= | CA2410958713 | ARSA | c.1107+49T= (n.1107+49T=) c.849+49T= (n.849+49T=) | |
22 | g.50625887A>C | CA2657591524 | ARSA | c.1107+49T>G (n.1107+49T>G) c.849+49T>G (n.849+49T>G) | gnomAD v4 |
22 | g.50625887A>G | CA2410958714 | ARSA | c.1107+49T>C (n.1107+49T>C) c.849+49T>C (n.849+49T>C) | dbSNP gnomAD v4 |
22 | g.50625887_50625888insCTT | CA2738231174 | ARSA | c.1107+48_1107+49insAAG (n.1107+48_1107+49insAAG) c.849+48_849+49insAAG (n.849+48_849+49insAAG) | dbSNP |
22 | g.50625888G>A | CA2657591529 | ARSA | c.1107+48C>T (n.1107+48C>T) c.849+48C>T (n.849+48C>T) | gnomAD v4 |
22 | g.50625888G>T | CA2657591531 | ARSA | c.1107+48C>A (n.1107+48C>A) c.849+48C>A (n.849+48C>A) | gnomAD v4 |
22 | g.50625889G>A | CA325531303 | ARSA | c.1107+47C>T (n.1107+47C>T) c.849+47C>T (n.849+47C>T) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625889G= | CA2410958715 | ARSA | c.1107+47C= (n.1107+47C=) c.849+47C= (n.849+47C=) | |
22 | g.50625889G>T | CA640358641 | ARSA | c.1107+47C>A (n.1107+47C>A) c.849+47C>A (n.849+47C>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625890C>A | CA2657591536 | ARSA | c.1107+46G>T (n.1107+46G>T) c.849+46G>T (n.849+46G>T) | gnomAD v4 |
22 | g.50625890C>T | CA2657591538 | ARSA | c.1107+46G>A (n.1107+46G>A) c.849+46G>A (n.849+46G>A) | gnomAD v4 |
22 | g.50625891C>A | CA2657591539 | ARSA | c.1107+45G>T (n.1107+45G>T) c.849+45G>T (n.849+45G>T) | gnomAD v4 |
22 | g.50625891C>T | CA2657591540 | ARSA | c.1107+45G>A (n.1107+45G>A) c.849+45G>A (n.849+45G>A) | gnomAD v4 |
22 | g.50625892A>G | CA2657591541 | ARSA | c.1107+44T>C (n.1107+44T>C) c.849+44T>C (n.849+44T>C) | gnomAD v4 |
22 | g.50625893G>A | CA2657591542 | ARSA | c.1107+43C>T (n.1107+43C>T) c.849+43C>T (n.849+43C>T) | gnomAD v4 |
22 | g.50625893G>C | CA640358642 | ARSA | c.1107+43C>G (n.1107+43C>G) c.849+43C>G (n.849+43C>G) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625893G= | CA2410958716 | ARSA | c.1107+43C= (n.1107+43C=) c.849+43C= (n.849+43C=) | |
22 | g.50625893G>T | CA2657591544 | ARSA | c.1107+43C>A (n.1107+43C>A) c.849+43C>A (n.849+43C>A) | gnomAD v4 |
22 | g.50625894G>A | CA2657591551 | ARSA | c.1107+42C>T (n.1107+42C>T) c.849+42C>T (n.849+42C>T) | gnomAD v4 |
22 | g.50625894G= | CA2410958717 | ARSA | c.1107+42C= (n.1107+42C=) c.849+42C= (n.849+42C=) | |
22 | g.50625894G>T | CA640358643 | ARSA | c.1107+42C>A (n.1107+42C>A) c.849+42C>A (n.849+42C>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625896C>A | CA2657591559 | ARSA | c.1107+40G>T (n.1107+40G>T) c.849+40G>T (n.849+40G>T) | gnomAD v4 |
22 | g.50625896C>G | CA2657591560 | ARSA | c.1107+40G>C (n.1107+40G>C) c.849+40G>C (n.849+40G>C) | gnomAD v4 |
22 | g.50625896C>T | CA2657591561 | ARSA | c.1107+40G>A (n.1107+40G>A) c.849+40G>A (n.849+40G>A) | gnomAD v4 |
22 | g.50625896_50625897delinsCA | CA2410958718 | ARSA | c.1107+39_1107+40delinsTG (n.1107+39_1107+40delinsTG) c.849+39_849+40delinsTG (n.849+39_849+40delinsTG) | |
22 | g.50625897del | CA10324823 | ARSA | c.1107+39del (n.1107+39del) c.849+39del (n.849+39del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625897A>G | CA657868328 | ARSA | c.1107+39T>C (n.1107+39T>C) c.849+39T>C (n.849+39T>C) | gnomAD v4 |
22 | g.50625897A>T | CA2657591570 | ARSA | c.1107+39T>A (n.1107+39T>A) c.849+39T>A (n.849+39T>A) | gnomAD v4 |
22 | g.50625898G>A | CA640358644 | ARSA | c.1107+38C>T (n.1107+38C>T) c.849+38C>T (n.849+38C>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625898G>C | CA2577767892 | ARSA | c.1107+38C>G (n.1107+38C>G) c.849+38C>G (n.849+38C>G) | |
22 | g.50625898G= | CA2410958719 | ARSA | c.1107+38C= (n.1107+38C=) c.849+38C= (n.849+38C=) | |
22 | g.50625898G>T | CA2657591579 | ARSA | c.1107+38C>A (n.1107+38C>A) c.849+38C>A (n.849+38C>A) | gnomAD v4 |
22 | g.50625899G>A | CA325531305 | ARSA | c.1107+37C>T (n.1107+37C>T) c.849+37C>T (n.849+37C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625899G>C | CA2657591584 | ARSA | c.1107+37C>G (n.1107+37C>G) c.849+37C>G (n.849+37C>G) | gnomAD v4 |
22 | g.50625899G= | CA2410958720 | ARSA | c.1107+37C= (n.1107+37C=) c.849+37C= (n.849+37C=) | |
22 | g.50625899G>T | CA2657591582 | ARSA | c.1107+37C>A (n.1107+37C>A) c.849+37C>A (n.849+37C>A) | gnomAD v4 |
22 | g.50625900G>A | CA640358645 | ARSA | c.1107+36C>T (n.1107+36C>T) c.849+36C>T (n.849+36C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625900G>C | CA640358646 | ARSA | c.1107+36C>G (n.1107+36C>G) c.849+36C>G (n.849+36C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625900G= | CA2410958721 | ARSA | c.1107+36C= (n.1107+36C=) c.849+36C= (n.849+36C=) | |
22 | g.50625901G>A | CA10324824 | ARSA | c.1107+35C>T (n.1107+35C>T) c.849+35C>T (n.849+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625901G= | CA2410958722 | ARSA | c.1107+35C= (n.1107+35C=) c.849+35C= (n.849+35C=) | |
22 | g.50625901G>T | CA2657591594 | ARSA | c.1107+35C>A (n.1107+35C>A) c.849+35C>A (n.849+35C>A) | gnomAD v4 |
22 | g.50625902C>A | CA2657591596 | ARSA | c.1107+34G>T (n.1107+34G>T) c.849+34G>T (n.849+34G>T) | gnomAD v4 |
22 | g.50625902C= | CA2410958723 | ARSA | c.1107+34G= (n.1107+34G=) c.849+34G= (n.849+34G=) | |
22 | g.50625902C>T | CA640358647 | ARSA | c.1107+34G>A (n.1107+34G>A) c.849+34G>A (n.849+34G>A) | dbSNP gnomAD v2 |
22 | g.50625903C>A | CA2657591597 | ARSA | c.1107+33G>T (n.1107+33G>T) c.849+33G>T (n.849+33G>T) | gnomAD v4 |
22 | g.50625903C>T | CA2657591598 | ARSA | c.1107+33G>A (n.1107+33G>A) c.849+33G>A (n.849+33G>A) | gnomAD v4 |
22 | g.50625905A= | CA2410958724 | ARSA | c.1107+31T= (n.1107+31T=) c.849+31T= (n.849+31T=) | |
22 | g.50625905A>G | CA10324825 | ARSA | c.1107+31T>C (n.1107+31T>C) c.849+31T>C (n.849+31T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625906G>A | CA2657591601 | ARSA | c.1107+30C>T (n.1107+30C>T) c.849+30C>T (n.849+30C>T) | gnomAD v4 |
22 | g.50625906G>T | CA2657591603 | ARSA | c.1107+30C>A (n.1107+30C>A) c.849+30C>A (n.849+30C>A) | gnomAD v4 |
22 | g.50625907G>T | CA2657591604 | ARSA | c.1107+29C>A (n.1107+29C>A) c.849+29C>A (n.849+29C>A) | gnomAD v4 |
22 | g.50625909del | CA2657591605 | ARSA | c.1107+27del (n.1107+27del) c.849+27del (n.849+27del) | gnomAD v4 |
22 | g.50625909T>A | CA2657591606 | ARSA | c.1107+27A>T (n.1107+27A>T) c.849+27A>T (n.849+27A>T) | gnomAD v4 |
22 | g.50625910C>A | CA640358648 | ARSA | c.1107+26G>T (n.1107+26G>T) c.849+26G>T (n.849+26G>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625910C= | CA2410958725 | ARSA | c.1107+26G= (n.1107+26G=) c.849+26G= (n.849+26G=) | |
22 | g.50625910C>G | CA1026680541 | ARSA | c.1107+26G>C (n.1107+26G>C) c.849+26G>C (n.849+26G>C) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625910C>T | CA2657591608 | ARSA | c.1107+26G>A (n.1107+26G>A) c.849+26G>A (n.849+26G>A) | gnomAD v4 |
22 | g.50625911T>C | CA2657591609 | ARSA | c.1107+25A>G (n.1107+25A>G) c.849+25A>G (n.849+25A>G) | gnomAD v4 |
22 | g.50625912G>A | CA2657591613 | ARSA | c.1107+24C>T (n.1107+24C>T) c.849+24C>T (n.849+24C>T) | gnomAD v4 |
22 | g.50625912G>T | CA2657591610 | ARSA | c.1107+24C>A (n.1107+24C>A) c.849+24C>A (n.849+24C>A) | gnomAD v4 |
22 | g.50625913G>A | CA2657591615 | ARSA | c.1107+23C>T (n.1107+23C>T) c.849+23C>T (n.849+23C>T) | gnomAD v4 |
22 | g.50625913G>T | CA2657591614 | ARSA | c.1107+23C>A (n.1107+23C>A) c.849+23C>A (n.849+23C>A) | gnomAD v4 |
22 | g.50625914G>T | CA2657591617 | ARSA | c.1107+22C>A (n.1107+22C>A) c.849+22C>A (n.849+22C>A) | gnomAD v4 |
22 | g.50625915A>G | CA2657591618 | ARSA | c.1107+21T>C (n.1107+21T>C) c.849+21T>C (n.849+21T>C) | gnomAD v4 |
22 | g.50625916T>C | CA10324826 | ARSA | c.1107+20A>G (n.1107+20A>G) c.849+20A>G (n.849+20A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625916T= | CA2410958726 | ARSA | c.1107+20A= (n.1107+20A=) c.849+20A= (n.849+20A=) | |
22 | g.50625917C>A | CA2657591620 | ARSA | c.1107+19G>T (n.1107+19G>T) c.849+19G>T (n.849+19G>T) | gnomAD v4 |
22 | g.50625917C>T | CA2577767893 | ARSA | c.1107+19G>A (n.1107+19G>A) c.849+19G>A (n.849+19G>A) | ClinVar |
22 | g.50625917_50625918delinsCA | CA2410958727 | ARSA | c.1107+18_1107+19delinsTG (n.1107+18_1107+19delinsTG) c.849+18_849+19delinsTG (n.849+18_849+19delinsTG) | |
22 | g.50625918del | CA10324827 | ARSA | c.1107+18del (n.1107+18del) c.849+18del (n.849+18del) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
22 | g.50625918A>G | CA2657591625 | ARSA | c.1107+18T>C (n.1107+18T>C) c.849+18T>C (n.849+18T>C) | gnomAD v4 |
22 | g.50625919G>C | CA754068312 | ARSA | c.1107+17C>G (n.1107+17C>G) c.849+17C>G (n.849+17C>G) | dbSNP |
22 | g.50625919G= | CA2410958728 | ARSA | c.1107+17C= (n.1107+17C=) c.849+17C= (n.849+17C=) | |
22 | g.50625919G>T | CA2657591630 | ARSA | c.1107+17C>A (n.1107+17C>A) c.849+17C>A (n.849+17C>A) | gnomAD v4 |
22 | g.50625922del | CA412171053 | ARSA | c.1107+17del (n.1107+17del) c.849+17del (n.849+17del) | |
22 | g.50625920G>A | CA640358649 | ARSA | c.1107+16C>T (n.1107+16C>T) c.849+16C>T (n.849+16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625920G>C | CA2410958730 | ARSA | c.1107+16C>G (n.1107+16C>G) c.849+16C>G (n.849+16C>G) | ClinVar dbSNP gnomAD v4 |
22 | g.50625920G= | CA2410958729 | ARSA | c.1107+16C= (n.1107+16C=) c.849+16C= (n.849+16C=) | |
22 | g.50625920G>T | CA2410958731 | ARSA | c.1107+16C>A (n.1107+16C>A) c.849+16C>A (n.849+16C>A) | dbSNP gnomAD v4 |
22 | g.50625921G>A | CA1026680547 | ARSA | c.1107+15C>T (n.1107+15C>T) c.849+15C>T (n.849+15C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625921G= | CA2410958732 | ARSA | c.1107+15C= (n.1107+15C=) c.849+15C= (n.849+15C=) | |
22 | g.50625921G>T | CA2657591647 | ARSA | c.1107+15C>A (n.1107+15C>A) c.849+15C>A (n.849+15C>A) | gnomAD v4 |
22 | g.50625922G>A | CA10324828 | ARSA | c.1107+14C>T (n.1107+14C>T) c.849+14C>T (n.849+14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625922G>C | CA754068320 | ARSA | c.1107+14C>G (n.1107+14C>G) c.849+14C>G (n.849+14C>G) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625922G= | CA2410958734 | ARSA | c.1107+14C= (n.1107+14C=) c.849+14C= (n.849+14C=) | |
22 | g.50625922G>T | CA2410958733 | ARSA | c.1107+14C>A (n.1107+14C>A) c.849+14C>A (n.849+14C>A) | dbSNP gnomAD v4 |
22 | g.50625923T>C | CA2657591655 | ARSA | c.1107+13A>G (n.1107+13A>G) c.849+13A>G (n.849+13A>G) | gnomAD v4 |
22 | g.50625924C>A | CA2657591658 | ARSA | c.1107+12G>T (n.1107+12G>T) c.849+12G>T (n.849+12G>T) | gnomAD v4 |
22 | g.50625924C= | CA2410958735 | ARSA | c.1107+12G= (n.1107+12G=) c.849+12G= (n.849+12G=) | |
22 | g.50625924C>T | CA2410958736 | ARSA | c.1107+12G>A (n.1107+12G>A) c.849+12G>A (n.849+12G>A) | ClinVar dbSNP gnomAD v4 |
22 | g.50625925_50625926delinsAC | CA2410958737 | ARSA | c.1107+10_1107+11delinsGT (n.1107+10_1107+11delinsGT) c.849+10_849+11delinsGT (n.849+10_849+11delinsGT) | |
22 | g.50625926C= | CA2410958738 | ARSA | c.1107+10G= (n.1107+10G=) c.849+10G= (n.849+10G=) | |
22 | g.50625926C>G | CA640358650 | ARSA | c.1107+10G>C (n.1107+10G>C) c.849+10G>C (n.849+10G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625926C>T | CA2573158309 | ARSA | c.1107+10G>A (n.1107+10G>A) c.849+10G>A (n.849+10G>A) | ClinVar dbSNP gnomAD v4 |
22 | g.50625927del | CA10324829 | ARSA | c.1107+10del (n.1107+10del) c.849+10del (n.849+10del) | ClinVar dbSNP ExAC gnomAD v4 |
22 | g.50625927C>A | CA2657591676 | ARSA | c.1107+9G>T (n.1107+9G>T) c.849+9G>T (n.849+9G>T) | gnomAD v4 |
22 | g.50625927C= | CA2410958739 | ARSA | c.1107+9G= (n.1107+9G=) c.849+9G= (n.849+9G=) | |
22 | g.50625927C>T | CA10324830 | ARSA | c.1107+9G>A (n.1107+9G>A) c.849+9G>A (n.849+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.50625928G>A | CA10324831 | ARSA | c.1107+8C>T (n.1107+8C>T) c.849+8C>T (n.849+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625928G>C | CA640358651 | ARSA | c.1107+8C>G (n.1107+8C>G) c.849+8C>G (n.849+8C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625928G= | CA2410958740 | ARSA | c.1107+8C= (n.1107+8C=) c.849+8C= (n.849+8C=) | |
22 | g.50625928G>T | CA2657591685 | ARSA | c.1107+8C>A (n.1107+8C>A) c.849+8C>A (n.849+8C>A) | gnomAD v4 |
22 | g.50625929dup | CA2842240903 | ARSA | c.1107+8dup (n.1107+8dup) c.849+8dup (n.849+8dup) | |
22 | g.50625929G>A | CA1026680549 | ARSA | c.1107+7C>T (n.1107+7C>T) c.849+7C>T (n.849+7C>T) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625929G= | CA2410958741 | ARSA | c.1107+7C= (n.1107+7C=) c.849+7C= (n.849+7C=) | |
22 | g.50625929G>T | CA2657591694 | ARSA | c.1107+7C>A (n.1107+7C>A) c.849+7C>A (n.849+7C>A) | gnomAD v4 |
22 | g.50625930C>A | CA2657591702 | ARSA | c.1107+6G>T (n.1107+6G>T) c.849+6G>T (n.849+6G>T) | gnomAD v4 |
22 | g.50625930C= | CA2410958742 | ARSA | c.1107+6G= (n.1107+6G=) c.849+6G= (n.849+6G=) | |
22 | g.50625930C>T | CA640358652 | ARSA | c.1107+6G>A (n.1107+6G>A) c.849+6G>A (n.849+6G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625932dup | CA2839059650 | ARSA | c.1107+6dup (n.1107+6dup) c.849+6dup (n.849+6dup) | |
22 | g.50625932del | CA2657591701 | ARSA | c.1107+6del (n.1107+6del) c.849+6del (n.849+6del) | gnomAD v4 |
22 | g.50625931C>A | CA2657591705 | ARSA | c.1107+5G>T (n.1107+5G>T) c.849+5G>T (n.849+5G>T) | gnomAD v4 |
22 | g.50625931C>G | CA2657591708 | ARSA | c.1107+5G>C (n.1107+5G>C) c.849+5G>C (n.849+5G>C) | gnomAD v4 |
22 | g.50625931C>T | CA2657591709 | ARSA | c.1107+5G>A (n.1107+5G>A) c.849+5G>A (n.849+5G>A) | gnomAD v4 |
22 | g.50625932C>A | CA2657591713 | ARSA | c.1107+4G>T (n.1107+4G>T) c.849+4G>T (n.849+4G>T) | gnomAD v4 |
22 | g.50625932C= | CA2410958743 | ARSA | c.1107+4G= (n.1107+4G=) c.849+4G= (n.849+4G=) | |
22 | g.50625932C>T | CA640358653 | ARSA | c.1107+4G>A (n.1107+4G>A) c.849+4G>A (n.849+4G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625933T>C | CA2577767896 | ARSA | c.1107+3A>G (n.1107+3A>G) c.849+3A>G (n.849+3A>G) | |
22 | g.50625934A>C | CA412171075 | ARSA | c.1107+2T>G (n.1107+2T>G) c.849+2T>G (n.849+2T>G) | |
22 | g.50625934A>G | CA412171073 | ARSA | c.1107+2T>C (n.1107+2T>C) c.849+2T>C (n.849+2T>C) | |
22 | g.50625934A>T | CA412171074 | ARSA | c.1107+2T>A (n.1107+2T>A) c.849+2T>A (n.849+2T>A) | |
22 | g.50625934_50625935delinsAC | CA2410958744 | ARSA | c.1107+1_1107+2delinsGT (n.1107+1_1107+2delinsGT) c.849+1_849+2delinsGT (n.849+1_849+2delinsGT) | |
22 | g.50625935C>A | CA412171081 | ARSA | c.1107+1G>T (n.1107+1G>T) c.849+1G>T (n.849+1G>T) | ClinVar dbSNP gnomAD v4 |
22 | g.50625935C>G | CA412171099 | ARSA | c.1107+1G>C (n.1107+1G>C) c.849+1G>C (n.849+1G>C) | ClinVar |
22 | g.50625935C>T | CA412171105 | ARSA | c.1107+1G>A (n.1107+1G>A) c.849+1G>A (n.849+1G>A) | ClinVar dbSNP gnomAD v4 |
22 | g.50625936del | CA16042035 | ARSA | c.1107+1del c.849+1del | ClinVar dbSNP |
22 | g.50625936C>A | CA412171118 | ARSA | c.1107G>T (p.Lys369Asn) c.849G>T (p.Lys283Asn) | gnomAD v4 |
22 | g.50625936C= | CA2410958745 | ARSA | c.1107G= (p.Lys369=) c.849G= (p.Lys283=) | |
22 | g.50625936C>G | CA218980 | ARSA | c.1107G>C (p.Lys369Asn) c.849G>C (p.Lys283Asn) | ClinVar dbSNP |
22 | g.50625936C>T | CA515248818 | ARSA | c.1107G>A (p.Lys369=) c.849G>A (p.Lys283=) | gnomAD v4 |
22 | g.50625937T>A | CA412171129 | ARSA | c.1106A>T (p.Lys369Met) c.848A>T (p.Lys283Met) | gnomAD v4 |
22 | g.50625937T>C | CA412171132 | ARSA | c.1106A>G (p.Lys369Arg) c.848A>G (p.Lys283Arg) | |
22 | g.50625937T>G | CA10324832 | ARSA | c.1106A>C (p.Lys369Thr) c.848A>C (p.Lys283Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625937T= | CA2410958746 | ARSA | c.1106A= (p.Lys369=) c.848A= (p.Lys283=) | |
22 | g.50625938T>A | CA412171144 | ARSA | c.1105A>T (p.Lys369Ter) c.847A>T (p.Lys283Ter) | |
22 | g.50625938T>C | CA412171141 | ARSA | c.1105A>G (p.Lys369Glu) c.847A>G (p.Lys283Glu) | |
22 | g.50625938T>G | CA412171138 | ARSA | c.1105A>C (p.Lys369Gln) c.847A>C (p.Lys283Gln) | |
22 | g.50625939G>A | CA515248819 | ARSA | c.1104C>T (p.Gly368=) c.846C>T (p.Gly282=) | |
22 | g.50625939G>C | CA515248820 | ARSA | c.1104C>G (p.Gly368=) c.846C>G (p.Gly282=) | |
22 | g.50625939G>T | CA515248821 | ARSA | c.1104C>A (p.Gly368=) c.846C>A (p.Gly282=) | gnomAD v4 |
22 | g.50625940C>A | CA412171171 | ARSA | c.1103G>T (p.Gly368Val) c.845G>T (p.Gly282Val) | gnomAD v4 |
22 | g.50625940C>G | CA412171176 | ARSA | c.1103G>C (p.Gly368Ala) c.845G>C (p.Gly282Ala) | |
22 | g.50625940C>T | CA412171191 | ARSA | c.1103G>A (p.Gly368Asp) c.845G>A (p.Gly282Asp) | gnomAD v4 |
22 | g.50625941C>A | CA412171194 | ARSA | c.1102G>T (p.Gly368Cys) c.844G>T (p.Gly282Cys) | gnomAD v4 |
22 | g.50625941C= | CA2410958747 | ARSA | c.1102G= (p.Gly368=) c.844G= (p.Gly282=) | |
22 | g.50625941C>G | CA412171200 | ARSA | c.1102G>C (p.Gly368Arg) c.844G>C (p.Gly282Arg) | |
22 | g.50625941C>T | CA412171207 | ARSA | c.1102G>A (p.Gly368Ser) c.844G>A (p.Gly282Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625942T>A | CA515248824 | ARSA | c.1101A>T (p.Thr367=) c.843A>T (p.Thr281=) | gnomAD v4 |
22 | g.50625942T>C | CA515248823 | ARSA | c.1101A>G (p.Thr367=) c.843A>G (p.Thr281=) | gnomAD v4 |
22 | g.50625942T>G | CA515248822 | ARSA | c.1101A>C (p.Thr367=) c.843A>C (p.Thr281=) | |
22 | g.50625943G>A | CA412171214 | ARSA | c.1100C>T (p.Thr367Ile) c.842C>T (p.Thr281Ile) | gnomAD v4 |
22 | g.50625943G>C | CA412171217 | ARSA | c.1100C>G (p.Thr367Arg) c.842C>G (p.Thr281Arg) | dbSNP gnomAD v2 |
22 | g.50625943G= | CA2410958748 | ARSA | c.1100C= (p.Thr367=) c.842C= (p.Thr281=) | |
22 | g.50625943G>T | CA412171219 | ARSA | c.1100C>A (p.Thr367Lys) c.842C>A (p.Thr281Lys) | |
22 | g.50625944T>A | CA412171225 | ARSA | c.1099A>T (p.Thr367Ser) c.841A>T (p.Thr281Ser) | gnomAD v4 |
22 | g.50625944T>C | CA412171226 | ARSA | c.1099A>G (p.Thr367Ala) c.841A>G (p.Thr281Ala) | dbSNP gnomAD v4 |
22 | g.50625944T>G | CA412171227 | ARSA | c.1099A>C (p.Thr367Pro) c.841A>C (p.Thr281Pro) | |
22 | g.50625944T= | CA2410958749 | ARSA | c.1099A= (p.Thr367=) c.841A= (p.Thr281=) | |
22 | g.50625945G>A | CA515248825 | ARSA | c.1098C>T (p.Gly366=) c.840C>T (p.Gly280=) | gnomAD v4 |
22 | g.50625945G>C | CA515248826 | ARSA | c.1098C>G (p.Gly366=) c.840C>G (p.Gly280=) | |
22 | g.50625945G>T | CA515248827 | ARSA | c.1098C>A (p.Gly366=) c.840C>A (p.Gly280=) | gnomAD v4 |
22 | g.50625946C>A | CA412171255 | ARSA | c.1097G>T (p.Gly366Val) c.839G>T (p.Gly280Val) | gnomAD v4 |
22 | g.50625946C= | CA2410958750 | ARSA | c.1097G= (p.Gly366=) c.839G= (p.Gly280=) | |
22 | g.50625946C>G | CA412171244 | ARSA | c.1097G>C (p.Gly366Ala) c.839G>C (p.Gly280Ala) | gnomAD v4 |
22 | g.50625946C>T | CA412171239 | ARSA | c.1097G>A (p.Gly366Asp) c.839G>A (p.Gly280Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
22 | g.50625947C>A | CA412171257 | ARSA | c.1096G>T (p.Gly366Cys) c.838G>T (p.Gly280Cys) | gnomAD v4 |
22 | g.50625947C>G | CA412171259 | ARSA | c.1096G>C (p.Gly366Arg) c.838G>C (p.Gly280Arg) | |
22 | g.50625947C>T | CA412171262 | ARSA | c.1096G>A (p.Gly366Ser) c.838G>A (p.Gly280Ser) | gnomAD v4 COSMIC |
22 | g.50625948C>A | CA515248828 | ARSA | c.1095G>T (p.Leu365=) c.837G>T (p.Leu279=) | gnomAD v4 |
22 | g.50625948C= | CA2410958751 | ARSA | c.1095G= (p.Leu365=) c.837G= (p.Leu279=) | |
22 | g.50625948C>G | CA515248829 | ARSA | c.1095G>C (p.Leu365=) c.837G>C (p.Leu279=) | |
22 | g.50625948C>T | CA10324833 | ARSA | c.1095G>A (p.Leu365=) c.837G>A (p.Leu279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625949A>C | CA412171279 | ARSA | c.1094T>G (p.Leu365Arg) c.836T>G (p.Leu279Arg) | |
22 | g.50625949A>G | CA412171285 | ARSA | c.1094T>C (p.Leu365Pro) c.836T>C (p.Leu279Pro) | gnomAD v4 |
22 | g.50625949A>T | CA412171291 | ARSA | c.1094T>A (p.Leu365Gln) c.836T>A (p.Leu279Gln) | gnomAD v4 |
22 | g.50625950G>A | CA515248830 | ARSA | c.1093C>T (p.Leu365=) c.835C>T (p.Leu279=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625950G>C | CA412171298 | ARSA | c.1093C>G (p.Leu365Val) c.835C>G (p.Leu279Val) | |
22 | g.50625950G= | CA2410958752 | ARSA | c.1093C= (p.Leu365=) c.835C= (p.Leu279=) | |
22 | g.50625950G>T | CA412171305 | ARSA | c.1093C>A (p.Leu365Met) c.835C>A (p.Leu279Met) | gnomAD v4 |
22 | g.50625951C>A | CA515248831 | ARSA | c.1092G>T (p.Leu364=) c.834G>T (p.Leu278=) | gnomAD v4 |
22 | g.50625951C>G | CA515248832 | ARSA | c.1092G>C (p.Leu364=) c.834G>C (p.Leu278=) | |
22 | g.50625951C>T | CA515248833 | ARSA | c.1092G>A (p.Leu364=) c.834G>A (p.Leu278=) | gnomAD v4 |
22 | g.50625952A>C | CA412171310 | ARSA | c.1091T>G (p.Leu364Arg) c.833T>G (p.Leu278Arg) | |
22 | g.50625952A>G | CA412171314 | ARSA | c.1091T>C (p.Leu364Pro) c.833T>C (p.Leu278Pro) | gnomAD v4 |
22 | g.50625952A>T | CA412171315 | ARSA | c.1091T>A (p.Leu364Gln) c.833T>A (p.Leu278Gln) | gnomAD v4 |
22 | g.50625953G>A | CA515248834 | ARSA | c.1090C>T (p.Leu364=) c.832C>T (p.Leu278=) | gnomAD v4 |
22 | g.50625953G>C | CA412171320 | ARSA | c.1090C>G (p.Leu364Val) c.832C>G (p.Leu278Val) | |
22 | g.50625953G>T | CA412171318 | ARSA | c.1090C>A (p.Leu364Met) c.832C>A (p.Leu278Met) | gnomAD v4 |
22 | g.50625954C>A | CA515248835 | ARSA | c.1089G>T (p.Leu363=) c.831G>T (p.Leu277=) | gnomAD v4 |
22 | g.50625954C= | CA2410958753 | ARSA | c.1089G= (p.Leu363=) c.831G= (p.Leu277=) | |
22 | g.50625954C>G | CA515248836 | ARSA | c.1089G>C (p.Leu363=) c.831G>C (p.Leu277=) | ClinVar dbSNP |
22 | g.50625954C>T | CA515248837 | ARSA | c.1089G>A (p.Leu363=) c.831G>A (p.Leu277=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625955A= | CA2410958754 | ARSA | c.1088T= (p.Leu363=) c.830T= (p.Leu277=) | |
22 | g.50625955A>C | CA412171325 | ARSA | c.1088T>G (p.Leu363Arg) c.830T>G (p.Leu277Arg) | |
22 | g.50625955A>G | CA412171330 | ARSA | c.1088T>C (p.Leu363Pro) c.830T>C (p.Leu277Pro) | gnomAD v4 |
22 | g.50625955A>T | CA412171334 | ARSA | c.1088T>A (p.Leu363Gln) c.830T>A (p.Leu277Gln) | |
22 | g.50625956G>A | CA515248838 | ARSA | c.1087C>T (p.Leu363=) c.829C>T (p.Leu277=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625956G>C | CA412171342 | ARSA | c.1087C>G (p.Leu363Val) c.829C>G (p.Leu277Val) | |
22 | g.50625956G= | CA2410958755 | ARSA | c.1087C= (p.Leu363=) c.829C= (p.Leu277=) | |
22 | g.50625956G>T | CA412171347 | ARSA | c.1087C>A (p.Leu363Met) c.829C>A (p.Leu277Met) | dbSNP gnomAD v4 |
22 | g.50625960dup | CA916083827 | ARSA | c.1087dup (p.Leu363ProfsTer?) c.829dup (p.Leu277ProfsTer?) | ClinVar dbSNP |
22 | g.50625960del | CA645612057 | ARSA | c.1087del (p.Leu363CysfsTer?) c.829del (p.Leu277CysfsTer?) c.1087del (p.Leu363CysfsTer12) | COSMIC |
22 | g.50625957G>A | CA515248839 | ARSA | c.1086C>T (p.Pro362=) c.828C>T (p.Pro276=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625957G>C | CA515248840 | ARSA | c.1086C>G (p.Pro362=) c.828C>G (p.Pro276=) | |
22 | g.50625957G= | CA2410958756 | ARSA | c.1086C= (p.Pro362=) c.828C= (p.Pro276=) | |
22 | g.50625957G>T | CA515248841 | ARSA | c.1086C>A (p.Pro362=) c.828C>A (p.Pro276=) | gnomAD v4 |
22 | g.50625958G>A | CA412171348 | ARSA | c.1085C>T (p.Pro362Leu) c.827C>T (p.Pro276Leu) | |
22 | g.50625958G>C | CA412171349 | ARSA | c.1085C>G (p.Pro362Arg) c.827C>G (p.Pro276Arg) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625958G= | CA2410958757 | ARSA | c.1085C= (p.Pro362=) c.827C= (p.Pro276=) | |
22 | g.50625958G>T | CA412171353 | ARSA | c.1085C>A (p.Pro362His) c.827C>A (p.Pro276His) | gnomAD v4 |
22 | g.50625959G>A | CA412171363 | ARSA | c.1084C>T (p.Pro362Ser) c.826C>T (p.Pro276Ser) | |
22 | g.50625959G>C | CA412171383 | ARSA | c.1084C>G (p.Pro362Ala) c.826C>G (p.Pro276Ala) | |
22 | g.50625959G>T | CA412171396 | ARSA | c.1084C>A (p.Pro362Thr) c.826C>A (p.Pro276Thr) | |
22 | g.50625959_50625961delinsGGC | CA2410958758 | ARSA | c.1082_1084delinsGCC (p.Ser361=) c.824_826delinsGCC (p.Ser275=) | |
22 | g.50625960G>A | CA515248842 | ARSA | c.1083C>T (p.Ser361=) c.825C>T (p.Ser275=) | |
22 | g.50625960G>C | CA412171398 | ARSA | c.1083C>G (p.Ser361Arg) c.825C>G (p.Ser275Arg) | |
22 | g.50625960G= | CA2410958759 | ARSA | c.1083C= (p.Ser361=) c.825C= (p.Ser275=) | |
22 | g.50625960G>T | CA412171402 | ARSA | c.1083C>A (p.Ser361Arg) c.825C>A (p.Ser275Arg) | dbSNP gnomAD v4 |
22 | g.50625960_50625961del | CA2410958760 | ARSA | c.1082_1083del (p.Ser361ThrfsTer?) c.824_825del (p.Ser275ThrfsTer?) | dbSNP |
22 | g.50625961C>A | CA412171417 | ARSA | c.1082G>T (p.Ser361Ile) c.824G>T (p.Ser275Ile) | gnomAD v4 |
22 | g.50625961C= | CA2410958761 | ARSA | c.1082G= (p.Ser361=) c.824G= (p.Ser275=) | |
22 | g.50625961C>G | CA412171428 | ARSA | c.1082G>C (p.Ser361Thr) c.824G>C (p.Ser275Thr) | |
22 | g.50625961C>T | CA412171407 | ARSA | c.1082G>A (p.Ser361Asn) c.824G>A (p.Ser275Asn) | dbSNP |
22 | g.50625962T>A | CA412171433 | ARSA | c.1081A>T (p.Ser361Cys) c.823A>T (p.Ser275Cys) | |
22 | g.50625962T>C | CA412171430 | ARSA | c.1081A>G (p.Ser361Gly) c.823A>G (p.Ser275Gly) | |
22 | g.50625962T>G | CA412171431 | ARSA | c.1081A>C (p.Ser361Arg) c.823A>C (p.Ser275Arg) | |
22 | g.50625963G>A | CA515248845 | ARSA | c.1080C>T (p.Leu360=) c.822C>T (p.Leu274=) | gnomAD v4 |
22 | g.50625963G>C | CA515248843 | ARSA | c.1080C>G (p.Leu360=) c.822C>G (p.Leu274=) | |
22 | g.50625963G>T | CA515248844 | ARSA | c.1080C>A (p.Leu360=) c.822C>A (p.Leu274=) | |
22 | g.50625964A= | CA2410958763 | ARSA | c.1079T= (p.Leu360=) c.821T= (p.Leu274=) | |
22 | g.50625964A>C | CA412171437 | ARSA | c.1079T>G (p.Leu360Arg) c.821T>G (p.Leu274Arg) | |
22 | g.50625964A>G | CA412171445 | ARSA | c.1079T>C (p.Leu360Pro) c.821T>C (p.Leu274Pro) | ClinVar dbSNP |
22 | g.50625964A>T | CA412171448 | ARSA | c.1079T>A (p.Leu360His) c.821T>A (p.Leu274His) | |
22 | g.50625964_50625965delinsAG | CA2410958762 | ARSA | c.1078_1079delinsCT (p.Leu360=) c.820_821delinsCT (p.Leu274=) | |
22 | g.50625965G>A | CA412171454 | ARSA | c.1078C>T (p.Leu360Phe) c.820C>T (p.Leu274Phe) | |
22 | g.50625965G>C | CA412171466 | ARSA | c.1078C>G (p.Leu360Val) c.820C>G (p.Leu274Val) | gnomAD v4 |
22 | g.50625965G= | CA2410958765 | ARSA | c.1078C= (p.Leu360=) c.820C= (p.Leu274=) | |
22 | g.50625965G>T | CA412171469 | ARSA | c.1078C>A (p.Leu360Ile) c.820C>A (p.Leu274Ile) | dbSNP gnomAD v4 |
22 | g.50625966del | CA920392348 | ARSA | c.1078del (p.Leu360SerfsTer?) c.820del (p.Leu274SerfsTer?) c.1078del (p.Leu360SerfsTer15) | dbSNP |
22 | g.50625965_50625967delinsGGT | CA2410958764 | ARSA | c.1076_1078delinsACC (p.Asp359=) c.818_820delinsACC (p.Asp273=) | |
22 | g.50625966G>A | CA325531311 | ARSA | c.1077C>T (p.Asp359=) c.819C>T (p.Asp273=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625966G>C | CA412171472 | ARSA | c.1077C>G (p.Asp359Glu) c.819C>G (p.Asp273Glu) | |
22 | g.50625966G= | CA2410958766 | ARSA | c.1077C= (p.Asp359=) c.819C= (p.Asp273=) | |
22 | g.50625966G>T | CA412171476 | ARSA | c.1077C>A (p.Asp359Glu) c.819C>A (p.Asp273Glu) | |
22 | g.50625966_50625967del | CA754068402 | ARSA | c.1076_1077del (p.Asp359AlafsTer?) c.818_819del (p.Asp273AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625967T>A | CA412171489 | ARSA | c.1076A>T (p.Asp359Val) c.818A>T (p.Asp273Val) | |
22 | g.50625967T>C | CA412171493 | ARSA | c.1076A>G (p.Asp359Gly) c.818A>G (p.Asp273Gly) | gnomAD v4 |
22 | g.50625967T>G | CA412171495 | ARSA | c.1076A>C (p.Asp359Ala) c.818A>C (p.Asp273Ala) | |
22 | g.50625968C>A | CA412171499 | ARSA | c.1075G>T (p.Asp359Tyr) c.817G>T (p.Asp273Tyr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625968C= | CA2410958767 | ARSA | c.1075G= (p.Asp359=) c.817G= (p.Asp273=) | |
22 | g.50625968C>G | CA412171501 | ARSA | c.1075G>C (p.Asp359His) c.817G>C (p.Asp273His) | |
22 | g.50625968C>T | CA412171500 | ARSA | c.1075G>A (p.Asp359Asn) c.817G>A (p.Asp273Asn) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625969A>C | CA412171503 | ARSA | c.1074T>G (p.Phe358Leu) c.816T>G (p.Phe272Leu) | |
22 | g.50625969A>G | CA515248846 | ARSA | c.1074T>C (p.Phe358=) c.816T>C (p.Phe272=) | |
22 | g.50625969A>T | CA412171516 | ARSA | c.1074T>A (p.Phe358Leu) c.816T>A (p.Phe272Leu) | |
22 | g.50625969_50625973delinsAAAGC | CA2410958768 | ARSA | c.1070_1074delinsGCTTT (p.Gly357=) c.812_816delinsGCTTT (p.Gly271=) | |
22 | g.50625970A>C | CA412171519 | ARSA | c.1073T>G (p.Phe358Cys) c.815T>G (p.Phe272Cys) | |
22 | g.50625970A>G | CA412171523 | ARSA | c.1073T>C (p.Phe358Ser) c.815T>C (p.Phe272Ser) | |
22 | g.50625970A>T | CA412171527 | ARSA | c.1073T>A (p.Phe358Tyr) c.815T>A (p.Phe272Tyr) | |
22 | g.50625970_50625973del | CA1026680566 | ARSA | c.1070_1073del (p.Gly357ValfsTer?) c.812_815del (p.Gly271ValfsTer?) c.1070_1073del (p.Gly357ValfsTer17) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625971A= | CA2410958769 | ARSA | c.1072T= (p.Phe358=) c.814T= (p.Phe272=) | |
22 | g.50625971A>C | CA325531313 | ARSA | c.1072T>G (p.Phe358Val) c.814T>G (p.Phe272Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625971A>G | CA412171547 | ARSA | c.1072T>C (p.Phe358Leu) c.814T>C (p.Phe272Leu) | |
22 | g.50625971A>T | CA412171556 | ARSA | c.1072T>A (p.Phe358Ile) c.814T>A (p.Phe272Ile) | |
22 | g.50625972G>A | CA515248847 | ARSA | c.1071C>T (p.Gly357=) c.813C>T (p.Gly271=) | ClinVar dbSNP gnomAD v4 |
22 | g.50625972G>C | CA515248848 | ARSA | c.1071C>G (p.Gly357=) c.813C>G (p.Gly271=) | |
22 | g.50625972G= | CA2410958770 | ARSA | c.1071C= (p.Gly357=) c.813C= (p.Gly271=) | |
22 | g.50625972G>T | CA515248849 | ARSA | c.1071C>A (p.Gly357=) c.813C>A (p.Gly271=) | gnomAD v4 |
22 | g.50625973C>A | CA412171563 | ARSA | c.1070G>T (p.Gly357Val) c.812G>T (p.Gly271Val) | gnomAD v4 |
22 | g.50625973C= | CA2410958771 | ARSA | c.1070G= (p.Gly357=) c.812G= (p.Gly271=) | |
22 | g.50625973C>G | CA412171569 | ARSA | c.1070G>C (p.Gly357Ala) c.812G>C (p.Gly271Ala) | |
22 | g.50625973C>T | CA10324834 | ARSA | c.1070G>A (p.Gly357Asp) c.812G>A (p.Gly271Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.50625974C>A | CA412171598 | ARSA | c.1069G>T (p.Gly357Cys) c.811G>T (p.Gly271Cys) | |
22 | g.50625974C>G | CA412171599 | ARSA | c.1069G>C (p.Gly357Arg) c.811G>C (p.Gly271Arg) | |
22 | g.50625974C>T | CA412171589 | ARSA | c.1069G>A (p.Gly357Ser) c.811G>A (p.Gly271Ser) | |
22 | g.50625975A= | CA2410958772 | ARSA | c.1068T= (p.Asp356=) c.810T= (p.Asp270=) | |
22 | g.50625975A>C | CA412171602 | ARSA | c.1068T>G (p.Asp356Glu) c.810T>G (p.Asp270Glu) | |
22 | g.50625975A>G | CA515248850 | ARSA | c.1068T>C (p.Asp356=) c.810T>C (p.Asp270=) | ClinVar dbSNP gnomAD v2 |
22 | g.50625975A>T | CA412171603 | ARSA | c.1068T>A (p.Asp356Glu) c.810T>A (p.Asp270Glu) | |
22 | g.50625976T>A | CA412171604 | ARSA | c.1067A>T (p.Asp356Val) c.809A>T (p.Asp270Val) | gnomAD v4 |
22 | g.50625976T>C | CA412171606 | ARSA | c.1067A>G (p.Asp356Gly) c.809A>G (p.Asp270Gly) | |
22 | g.50625976T>G | CA412171609 | ARSA | c.1067A>C (p.Asp356Ala) c.809A>C (p.Asp270Ala) | |
22 | g.50625977C>A | CA412171613 | ARSA | c.1066G>T (p.Asp356Tyr) c.808G>T (p.Asp270Tyr) | gnomAD v4 |
22 | g.50625977C>G | CA412171616 | ARSA | c.1066G>C (p.Asp356His) c.808G>C (p.Asp270His) | |
22 | g.50625977C>T | CA412171626 | ARSA | c.1066G>A (p.Asp356Asn) c.808G>A (p.Asp270Asn) | |
22 | g.50625978C>A | CA412171630 | ARSA | c.1065G>T (p.Leu355Phe) c.807G>T (p.Leu269Phe) | gnomAD v4 |
22 | g.50625978C>G | CA412171635 | ARSA | c.1065G>C (p.Leu355Phe) c.807G>C (p.Leu269Phe) | |
22 | g.50625978C>T | CA515248851 | ARSA | c.1065G>A (p.Leu355=) c.807G>A (p.Leu269=) | gnomAD v4 |
22 | g.50625979A>C | CA412171639 | ARSA | c.1064T>G (p.Leu355Trp) c.806T>G (p.Leu269Trp) | |
22 | g.50625979A>G | CA412171643 | ARSA | c.1064T>C (p.Leu355Ser) c.806T>C (p.Leu269Ser) | |
22 | g.50625979A>T | CA412171646 | ARSA | c.1064T>A (p.Leu355Ter) c.806T>A (p.Leu269Ter) | |
22 | g.50625980A= | CA2410958773 | ARSA | c.1063T= (p.Leu355=) c.805T= (p.Leu269=) | |
22 | g.50625980A>C | CA10324835 | ARSA | c.1063T>G (p.Leu355Val) c.805T>G (p.Leu269Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625980A>G | CA515248852 | ARSA | c.1063T>C (p.Leu355=) c.805T>C (p.Leu269=) | |
22 | g.50625980A>T | CA412171653 | ARSA | c.1063T>A (p.Leu355Met) c.805T>A (p.Leu269Met) | |
22 | g.50625981G>A | CA515248853 | ARSA | c.1062C>T (p.Thr354=) c.804C>T (p.Thr268=) | |
22 | g.50625981G>C | CA515248854 | ARSA | c.1062C>G (p.Thr354=) c.804C>G (p.Thr268=) | |
22 | g.50625981G>T | CA515248855 | ARSA | c.1062C>A (p.Thr354=) c.804C>A (p.Thr268=) | |
22 | g.50625982G>A | CA412171668 | ARSA | c.1061C>T (p.Thr354Ile) c.803C>T (p.Thr268Ile) | |
22 | g.50625982G>C | CA412171671 | ARSA | c.1061C>G (p.Thr354Ser) c.803C>G (p.Thr268Ser) | |
22 | g.50625982G>T | CA412171675 | ARSA | c.1061C>A (p.Thr354Asn) c.803C>A (p.Thr268Asn) | |
22 | g.50625983T>A | CA10324836 | ARSA | c.1060A>T (p.Thr354Ser) c.802A>T (p.Thr268Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625983T>C | CA412171687 | ARSA | c.1060A>G (p.Thr354Ala) c.802A>G (p.Thr268Ala) | |
22 | g.50625983T>G | CA412171693 | ARSA | c.1060A>C (p.Thr354Pro) c.802A>C (p.Thr268Pro) | gnomAD v4 |
22 | g.50625983T= | CA2410958774 | ARSA | c.1060A= (p.Thr354=) c.802A= (p.Thr268=) | |
22 | g.50625984G>A | CA515248856 | ARSA | c.1059C>T (p.Val353=) c.801C>T (p.Val267=) | ClinVar |
22 | g.50625984G>C | CA515248857 | ARSA | c.1059C>G (p.Val353=) c.801C>G (p.Val267=) | |
22 | g.50625984G>T | CA515248858 | ARSA | c.1059C>A (p.Val353=) c.801C>A (p.Val267=) | |
22 | g.50625985A>C | CA412171729 | ARSA | c.1058T>G (p.Val353Gly) c.800T>G (p.Val267Gly) | |
22 | g.50625985A>G | CA412171699 | ARSA | c.1058T>C (p.Val353Ala) c.800T>C (p.Val267Ala) | |
22 | g.50625985A>T | CA412171722 | ARSA | c.1058T>A (p.Val353Asp) c.800T>A (p.Val267Asp) | gnomAD v4 |
22 | g.50625986C>A | CA412171735 | ARSA | c.1057G>T (p.Val353Phe) c.799G>T (p.Val267Phe) | gnomAD v4 |
22 | g.50625986C>G | CA412171738 | ARSA | c.1057G>C (p.Val353Leu) c.799G>C (p.Val267Leu) | |
22 | g.50625986C>T | CA412171743 | ARSA | c.1057G>A (p.Val353Ile) c.799G>A (p.Val267Ile) | gnomAD v4 |
22 | g.50625987A= | CA2410958775 | ARSA | c.1056T= (p.Asn352=) c.798T= (p.Asn266=) | |
22 | g.50625987A>C | CA412171751 | ARSA | c.1056T>G (p.Asn352Lys) c.798T>G (p.Asn266Lys) | |
22 | g.50625987A>G | CA515248859 | ARSA | c.1056T>C (p.Asn352=) c.798T>C (p.Asn266=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625987A>T | CA412171755 | ARSA | c.1056T>A (p.Asn352Lys) c.798T>A (p.Asn266Lys) |