UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.6248232G>C | CA2677191793 | F13A1 | c.798+80C>G (n.798+80C>G) c.960+80C>G (n.960+80C>G) | gnomAD v4 |
| 6 | g.6248232G>T | CA2677191794 | F13A1 | c.798+80C>A (n.798+80C>A) c.960+80C>A (n.960+80C>A) | gnomAD v4 |
| 6 | g.6248233C>A | CA2677191795 | F13A1 | c.798+79G>T (n.798+79G>T) c.960+79G>T (n.960+79G>T) | gnomAD v4 |
| 6 | g.6248233C>G | CA2677191796 | F13A1 | c.798+79G>C (n.798+79G>C) c.960+79G>C (n.960+79G>C) | gnomAD v4 |
| 6 | g.6248233C>T | CA2578524915 | F13A1 | c.798+79G>A (n.798+79G>A) c.960+79G>A (n.960+79G>A) | gnomAD v4 |
| 6 | g.6248234A= | CA1608002781 | F13A1 | c.798+78T= (n.798+78T=) c.960+78T= (n.960+78T=) | |
| 6 | g.6248234A>G | CA1608002782 | F13A1 | c.798+78T>C (n.798+78T>C) c.960+78T>C (n.960+78T>C) | dbSNP |
| 6 | g.6248235G>A | CA2677191797 | F13A1 | c.798+77C>T (n.798+77C>T) c.960+77C>T (n.960+77C>T) | gnomAD v4 |
| 6 | g.6248235G>T | CA2578524916 | F13A1 | c.798+77C>A (n.798+77C>A) c.960+77C>A (n.960+77C>A) | gnomAD v4 |
| 6 | g.6248236C>A | CA2677191798 | F13A1 | c.798+76G>T (n.798+76G>T) c.960+76G>T (n.960+76G>T) | gnomAD v4 |
| 6 | g.6248236C= | CA1608002783 | F13A1 | c.798+76G= (n.798+76G=) c.960+76G= (n.960+76G=) | |
| 6 | g.6248236C>T | CA1608002784 | F13A1 | c.798+76G>A (n.798+76G>A) c.960+76G>A (n.960+76G>A) | dbSNP gnomAD v4 |
| 6 | g.6248237T>A | CA134394023 | F13A1 | c.798+75A>T (n.798+75A>T) c.960+75A>T (n.960+75A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248237T= | CA1608002785 | F13A1 | c.798+75A= (n.798+75A=) c.960+75A= (n.960+75A=) | |
| 6 | g.6248239T>C | CA2677191799 | F13A1 | c.798+73A>G (n.798+73A>G) c.960+73A>G (n.960+73A>G) | gnomAD v4 |
| 6 | g.6248240T>C | CA134394024 | F13A1 | c.798+72A>G (n.798+72A>G) c.960+72A>G (n.960+72A>G) | dbSNP gnomAD v4 |
| 6 | g.6248240T= | CA1608002786 | F13A1 | c.798+72A= (n.798+72A=) c.960+72A= (n.960+72A=) | |
| 6 | g.6248241A= | CA1608002787 | F13A1 | c.798+71T= (n.798+71T=) c.960+71T= (n.960+71T=) | |
| 6 | g.6248241A>G | CA1608002788 | F13A1 | c.798+71T>C (n.798+71T>C) c.960+71T>C (n.960+71T>C) | dbSNP gnomAD v4 |
| 6 | g.6248241A>T | CA2677191800 | F13A1 | c.798+71T>A (n.798+71T>A) c.960+71T>A (n.960+71T>A) | gnomAD v4 |
| 6 | g.6248243T>C | CA565293203 | F13A1 | c.798+69A>G (n.798+69A>G) c.960+69A>G (n.960+69A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248243T>G | CA134394025 | F13A1 | c.798+69A>C (n.798+69A>C) c.960+69A>C (n.960+69A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6248243T= | CA1608002789 | F13A1 | c.798+69A= (n.798+69A=) c.960+69A= (n.960+69A=) | |
| 6 | g.6248244G>T | CA2559680931 | F13A1 | c.798+68C>A (n.798+68C>A) c.960+68C>A (n.960+68C>A) | gnomAD v4 |
| 6 | g.6248249G>T | CA2677191801 | F13A1 | c.798+63C>A (n.798+63C>A) c.960+63C>A (n.960+63C>A) | gnomAD v4 |
| 6 | g.6248250G>A | CA565293205 | F13A1 | c.798+62C>T (n.798+62C>T) c.960+62C>T (n.960+62C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6248250G>C | CA134394026 | F13A1 | c.798+62C>G (n.798+62C>G) c.960+62C>G (n.960+62C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248250G= | CA1608002790 | F13A1 | c.798+62C= (n.798+62C=) c.960+62C= (n.960+62C=) | |
| 6 | g.6248250G>T | CA2578524917 | F13A1 | c.798+62C>A (n.798+62C>A) c.960+62C>A (n.960+62C>A) | gnomAD v4 |
| 6 | g.6248251C>A | CA2677191802 | F13A1 | c.798+61G>T (n.798+61G>T) c.960+61G>T (n.960+61G>T) | gnomAD v4 |
| 6 | g.6248251C= | CA1608002791 | F13A1 | c.798+61G= (n.798+61G=) c.960+61G= (n.960+61G=) | |
| 6 | g.6248251C>G | CA2677191803 | F13A1 | c.798+61G>C (n.798+61G>C) c.960+61G>C (n.960+61G>C) | gnomAD v4 |
| 6 | g.6248251C>T | CA1608002792 | F13A1 | c.798+61G>A (n.798+61G>A) c.960+61G>A (n.960+61G>A) | dbSNP gnomAD v4 |
| 6 | g.6248252A= | CA1608002793 | F13A1 | c.798+60T= (n.798+60T=) c.960+60T= (n.960+60T=) | |
| 6 | g.6248252A>G | CA565293208 | F13A1 | c.798+60T>C (n.798+60T>C) c.960+60T>C (n.960+60T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248252A>T | CA2677191804 | F13A1 | c.798+60T>A (n.798+60T>A) c.960+60T>A (n.960+60T>A) | gnomAD v4 |
| 6 | g.6248252dup | CA826796074 | F13A1 | c.798+60dup (n.798+60dup) c.960+60dup (n.960+60dup) | dbSNP |
| 6 | g.6248253T>A | CA2677191805 | F13A1 | c.798+59A>T (n.798+59A>T) c.960+59A>T (n.960+59A>T) | gnomAD v4 |
| 6 | g.6248254A= | CA1608002795 | F13A1 | c.798+58T= (n.798+58T=) c.960+58T= (n.960+58T=) | |
| 6 | g.6248254A>T | CA1608002794 | F13A1 | c.798+58T>A (n.798+58T>A) c.960+58T>A (n.960+58T>A) | dbSNP gnomAD v4 |
| 6 | g.6248255T>C | CA2677191806 | F13A1 | c.798+57A>G (n.798+57A>G) c.960+57A>G (n.960+57A>G) | gnomAD v4 |
| 6 | g.6248255T>G | CA2677191807 | F13A1 | c.798+57A>C (n.798+57A>C) c.960+57A>C (n.960+57A>C) | gnomAD v4 |
| 6 | g.6248257T>C | CA565293210 | F13A1 | c.798+55A>G (n.798+55A>G) c.960+55A>G (n.960+55A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248257T>G | CA826796091 | F13A1 | c.798+55A>C (n.798+55A>C) c.960+55A>C (n.960+55A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6248257T= | CA1608002796 | F13A1 | c.798+55A= (n.798+55A=) c.960+55A= (n.960+55A=) | |
| 6 | g.6248260T>C | CA826796094 | F13A1 | c.798+52A>G (n.798+52A>G) c.960+52A>G (n.960+52A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6248260T>G | CA2677191808 | F13A1 | c.798+52A>C (n.798+52A>C) c.960+52A>C (n.960+52A>C) | gnomAD v4 |
| 6 | g.6248260T= | CA1608002797 | F13A1 | c.798+52A= (n.798+52A=) c.960+52A= (n.960+52A=) | |
| 6 | g.6248261G>T | CA2578524918 | F13A1 | c.798+51C>A (n.798+51C>A) c.960+51C>A (n.960+51C>A) | gnomAD v4 |
| 6 | g.6248262A= | CA1608002798 | F13A1 | c.798+50T= (n.798+50T=) c.960+50T= (n.960+50T=) | |
| 6 | g.6248262A>G | CA3624546 | F13A1 | c.798+50T>C (n.798+50T>C) c.960+50T>C (n.960+50T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6248262A>T | CA2578524919 | F13A1 | c.798+50T>A (n.798+50T>A) c.960+50T>A (n.960+50T>A) | |
| 6 | g.6248263G>A | CA565293213 | F13A1 | c.798+49C>T (n.798+49C>T) c.960+49C>T (n.960+49C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6248263G= | CA1608002799 | F13A1 | c.798+49C= (n.798+49C=) c.960+49C= (n.960+49C=) | |
| 6 | g.6248263G>T | CA2677191809 | F13A1 | c.798+49C>A (n.798+49C>A) c.960+49C>A (n.960+49C>A) | gnomAD v4 |
| 6 | g.6248264G>T | CA2578524920 | F13A1 | c.798+48C>A (n.798+48C>A) c.960+48C>A (n.960+48C>A) | |
| 6 | g.6248265C>A | CA1608002801 | F13A1 | c.798+47G>T (n.798+47G>T) c.960+47G>T (n.960+47G>T) | dbSNP gnomAD v4 |
| 6 | g.6248265C= | CA1608002800 | F13A1 | c.798+47G= (n.798+47G=) c.960+47G= (n.960+47G=) | |
| 6 | g.6248265C>T | CA2769870152 | F13A1 | c.798+47G>A (n.798+47G>A) c.960+47G>A (n.960+47G>A) | |
| 6 | g.6248268A>G | CA2677191810 | F13A1 | c.798+44T>C (n.798+44T>C) c.960+44T>C (n.960+44T>C) | gnomAD v4 |
| 6 | g.6248269T>G | CA2677191811 | F13A1 | c.798+43A>C (n.798+43A>C) c.960+43A>C (n.960+43A>C) | gnomAD v4 |
| 6 | g.6248270G>A | CA565293215 | F13A1 | c.798+42C>T (n.798+42C>T) c.960+42C>T (n.960+42C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6248270G= | CA1608002802 | F13A1 | c.798+42C= (n.798+42C=) c.960+42C= (n.960+42C=) | |
| 6 | g.6248270G>T | CA2677191812 | F13A1 | c.798+42C>A (n.798+42C>A) c.960+42C>A (n.960+42C>A) | gnomAD v4 |
| 6 | g.6248272C>T | CA2677191813 | F13A1 | c.798+40G>A (n.798+40G>A) c.960+40G>A (n.960+40G>A) | gnomAD v4 |
| 6 | g.6248273A>C | CA2677191814 | F13A1 | c.798+39T>G (n.798+39T>G) c.960+39T>G (n.960+39T>G) | gnomAD v4 |
| 6 | g.6248274G>T | CA2578524921 | F13A1 | c.798+38C>A (n.798+38C>A) c.960+38C>A (n.960+38C>A) | |
| 6 | g.6248275G>A | CA2677191815 | F13A1 | c.798+37C>T (n.798+37C>T) c.960+37C>T (n.960+37C>T) | gnomAD v4 |
| 6 | g.6248275G>T | CA2677191816 | F13A1 | c.798+37C>A (n.798+37C>A) c.960+37C>A (n.960+37C>A) | gnomAD v4 |
| 6 | g.6248276T>C | CA3624547 | F13A1 | c.798+36A>G (n.798+36A>G) c.960+36A>G (n.960+36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248276T= | CA1608002803 | F13A1 | c.798+36A= (n.798+36A=) c.960+36A= (n.960+36A=) | |
| 6 | g.6248277G>A | CA565293219 | F13A1 | c.798+35C>T (n.798+35C>T) c.960+35C>T (n.960+35C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6248277G= | CA1608002804 | F13A1 | c.798+35C= (n.798+35C=) c.960+35C= (n.960+35C=) | |
| 6 | g.6248277G>T | CA2677191817 | F13A1 | c.798+35C>A (n.798+35C>A) c.960+35C>A (n.960+35C>A) | gnomAD v4 |
| 6 | g.6248278T= | CA1608002805 | F13A1 | c.798+34A= (n.798+34A=) c.960+34A= (n.960+34A=) | |
| 6 | g.6248279A>G | CA2677191819 | F13A1 | c.798+33T>C (n.798+33T>C) c.960+33T>C (n.960+33T>C) | gnomAD v4 |
| 6 | g.6248280del | CA2677191818 | F13A1 | c.798+33del (n.798+33del) c.960+33del (n.960+33del) | gnomAD v4 |
| 6 | g.6248280_6248282dup | CA1085617056 | F13A1 | c.798+31_798+33dup (n.798+31_798+33dup) c.960+31_960+33dup (n.960+31_960+33dup) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6248281C>T | CA2710899203 | F13A1 | c.798+31G>A (n.798+31G>A) c.960+31G>A (n.960+31G>A) | dbSNP |
| 6 | g.6248283G= | CA1608002806 | F13A1 | c.798+29C= (n.798+29C=) c.960+29C= (n.960+29C=) | |
| 6 | g.6248283G>T | CA1608002807 | F13A1 | c.798+29C>A (n.798+29C>A) c.960+29C>A (n.960+29C>A) | dbSNP gnomAD v4 |
| 6 | g.6248284A>G | CA2578524922 | F13A1 | c.798+28T>C (n.798+28T>C) c.960+28T>C (n.960+28T>C) | gnomAD v4 |
| 6 | g.6248286T>A | CA2677191820 | F13A1 | c.798+26A>T (n.798+26A>T) c.960+26A>T (n.960+26A>T) | gnomAD v4 |
| 6 | g.6248287T>A | CA2677191821 | F13A1 | c.798+25A>T (n.798+25A>T) c.960+25A>T (n.960+25A>T) | gnomAD v4 |
| 6 | g.6248290G>T | CA2677191822 | F13A1 | c.798+22C>A (n.798+22C>A) c.960+22C>A (n.960+22C>A) | gnomAD v4 |
| 6 | g.6248291G>T | CA2578524923 | F13A1 | c.798+21C>A (n.798+21C>A) c.960+21C>A (n.960+21C>A) | gnomAD v4 |
| 6 | g.6248293A= | CA1608002808 | F13A1 | c.798+19T= (n.798+19T=) c.960+19T= (n.960+19T=) | |
| 6 | g.6248293A>G | CA3624548 | F13A1 | c.798+19T>C (n.798+19T>C) c.960+19T>C (n.960+19T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6248294T>G | CA826796101 | F13A1 | c.798+18A>C (n.798+18A>C) c.960+18A>C (n.960+18A>C) | dbSNP |
| 6 | g.6248294T= | CA1608002809 | F13A1 | c.798+18A= (n.798+18A=) c.960+18A= (n.960+18A=) | |
| 6 | g.6248295C= | CA1608002810 | F13A1 | c.798+17G= (n.798+17G=) c.960+17G= (n.960+17G=) | |
| 6 | g.6248295C>G | CA2769870153 | F13A1 | c.798+17G>C (n.798+17G>C) c.960+17G>C (n.960+17G>C) | |
| 6 | g.6248295C>T | CA3624549 | F13A1 | c.798+17G>A (n.798+17G>A) c.960+17G>A (n.960+17G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6248296A= | CA1608002811 | F13A1 | c.798+16T= (n.798+16T=) c.960+16T= (n.960+16T=) | |
| 6 | g.6248296A>C | CA650475172 | F13A1 | c.798+16T>G (n.798+16T>G) c.960+16T>G (n.960+16T>G) | COSMIC |
| 6 | g.6248296A>G | CA565293221 | F13A1 | c.798+16T>C (n.798+16T>C) c.960+16T>C (n.960+16T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6248296_6248298delinsAGT | CA1608002812 | F13A1 | c.798+14_798+16delinsACT (n.798+14_798+16delinsACT) c.960+14_960+16delinsACT (n.960+14_960+16delinsACT) | |
| 6 | g.6248297G>T | CA2677191823 | F13A1 | c.798+15C>A (n.798+15C>A) c.960+15C>A (n.960+15C>A) | gnomAD v4 |
| 6 | g.6248297_6248298del | CA3624550 | F13A1 | c.798+14_798+15del (n.798+14_798+15del) c.960+14_960+15del (n.960+14_960+15del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6248298T>C | CA3624551 | F13A1 | c.798+14A>G (n.798+14A>G) c.960+14A>G (n.960+14A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248298T= | CA1608002813 | F13A1 | c.798+14A= (n.798+14A=) c.960+14A= (n.960+14A=) | |
| 6 | g.6248299A= | CA1608002814 | F13A1 | c.798+13T= (n.798+13T=) c.960+13T= (n.960+13T=) | |
| 6 | g.6248299A>G | CA826796117 | F13A1 | c.798+13T>C (n.798+13T>C) c.960+13T>C (n.960+13T>C) | dbSNP |
| 6 | g.6248301T>A | CA2578524924 | F13A1 | c.798+11A>T (n.798+11A>T) c.960+11A>T (n.960+11A>T) | gnomAD v4 |
| 6 | g.6248301T>C | CA2578524925 | F13A1 | c.798+11A>G (n.798+11A>G) c.960+11A>G (n.960+11A>G) | gnomAD v4 |
| 6 | g.6248303G>C | CA1085617057 | F13A1 | c.798+9C>G (n.798+9C>G) c.960+9C>G (n.960+9C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6248303G= | CA1608002815 | F13A1 | c.798+9C= (n.798+9C=) c.960+9C= (n.960+9C=) | |
| 6 | g.6248303G>T | CA565293227 | F13A1 | c.798+9C>A (n.798+9C>A) c.960+9C>A (n.960+9C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6248304C= | CA1608002816 | F13A1 | c.798+8G= (n.798+8G=) c.960+8G= (n.960+8G=) | |
| 6 | g.6248304C>T | CA3624552 | F13A1 | c.798+8G>A (n.798+8G>A) c.960+8G>A (n.960+8G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248305T>C | CA2677191824 | F13A1 | c.798+7A>G (n.798+7A>G) c.960+7A>G (n.960+7A>G) | gnomAD v4 |
| 6 | g.6248306G>A | CA3624553 | F13A1 | c.798+6C>T (n.798+6C>T) c.960+6C>T (n.960+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6248306G= | CA1608002817 | F13A1 | c.798+6C= (n.798+6C=) c.960+6C= (n.960+6C=) | |
| 6 | g.6248306G>T | CA565293230 | F13A1 | c.798+6C>A (n.798+6C>A) c.960+6C>A (n.960+6C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248308T>C | CA565293235 | F13A1 | c.798+4A>G (n.798+4A>G) c.960+4A>G (n.960+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6248308T= | CA1608002818 | F13A1 | c.798+4A= (n.798+4A=) c.960+4A= (n.960+4A=) | |
| 6 | g.6248309T>A | CA2677191825 | F13A1 | c.798+3A>T (n.798+3A>T) c.960+3A>T (n.960+3A>T) | gnomAD v4 |
| 6 | g.6248310A= | CA1608002819 | F13A1 | c.798+2T= (n.798+2T=) c.960+2T= (n.960+2T=) | |
| 6 | g.6248310A>C | CA362740239 | F13A1 | c.798+2T>G (n.798+2T>G) c.960+2T>G (n.960+2T>G) | |
| 6 | g.6248310A>G | CA362740237 | F13A1 | c.798+2T>C (n.798+2T>C) c.960+2T>C (n.960+2T>C) | ClinVar dbSNP |
| 6 | g.6248310A>T | CA362740238 | F13A1 | c.798+2T>A (n.798+2T>A) c.960+2T>A (n.960+2T>A) | |
| 6 | g.6248311C>A | CA362740240 | F13A1 | c.798+1G>T (n.798+1G>T) c.960+1G>T (n.960+1G>T) | COSMIC |
| 6 | g.6248311C>G | CA362740241 | F13A1 | c.798+1G>C (n.798+1G>C) c.960+1G>C (n.960+1G>C) | |
| 6 | g.6248311C>T | CA362740242 | F13A1 | c.798+1G>A (n.798+1G>A) c.960+1G>A (n.960+1G>A) | |
| 6 | g.6248312C>A | CA362740243 | F13A1 | c.798G>T (p.Met266Ile) c.960G>T (p.Met320Ile) | gnomAD v4 |
| 6 | g.6248312C>G | CA362740244 | F13A1 | c.798G>C (p.Met266Ile) c.960G>C (p.Met320Ile) | |
| 6 | g.6248312C>T | CA362740245 | F13A1 | c.798G>A (p.Met266Ile) c.960G>A (p.Met320Ile) | |
| 6 | g.6248313A>C | CA362740246 | F13A1 | c.797T>G (p.Met266Arg) c.959T>G (p.Met320Arg) | |
| 6 | g.6248313A>G | CA362740247 | F13A1 | c.797T>C (p.Met266Thr) c.959T>C (p.Met320Thr) | |
| 6 | g.6248313A>T | CA362740248 | F13A1 | c.797T>A (p.Met266Lys) c.959T>A (p.Met320Lys) | |
| 6 | g.6248314T>A | CA362740249 | F13A1 | c.796A>T (p.Met266Leu) c.958A>T (p.Met320Leu) | |
| 6 | g.6248314T>C | CA362740250 | F13A1 | c.796A>G (p.Met266Val) c.958A>G (p.Met320Val) | gnomAD v4 |
| 6 | g.6248314T>G | CA362740251 | F13A1 | c.796A>C (p.Met266Leu) c.958A>C (p.Met320Leu) | |
| 6 | g.6248315T>A | CA448645905 | F13A1 | c.795A>T (p.Ala265=) c.957A>T (p.Ala319=) | |
| 6 | g.6248315T>C | CA448645903 | F13A1 | c.795A>G (p.Ala265=) c.957A>G (p.Ala319=) | |
| 6 | g.6248315T>G | CA448645904 | F13A1 | c.795A>C (p.Ala265=) c.957A>C (p.Ala319=) | gnomAD v4 |
| 6 | g.6248316G>A | CA362740252 | F13A1 | c.794C>T (p.Ala265Val) c.956C>T (p.Ala319Val) | gnomAD v4 |
| 6 | g.6248316G>C | CA362740254 | F13A1 | c.794C>G (p.Ala265Gly) c.956C>G (p.Ala319Gly) | |
| 6 | g.6248316G>T | CA362740253 | F13A1 | c.794C>A (p.Ala265Glu) c.956C>A (p.Ala319Glu) | |
| 6 | g.6248317C>A | CA362740255 | F13A1 | c.793G>T (p.Ala265Ser) c.955G>T (p.Ala319Ser) | |
| 6 | g.6248317C>G | CA362740257 | F13A1 | c.793G>C (p.Ala265Pro) c.955G>C (p.Ala319Pro) | |
| 6 | g.6248317C>T | CA362740256 | F13A1 | c.793G>A (p.Ala265Thr) c.955G>A (p.Ala319Thr) | |
| 6 | g.6248318A>C | CA448645906 | F13A1 | c.792T>G (p.Ser264=) c.954T>G (p.Ser318=) | |
| 6 | g.6248318A>G | CA448645907 | F13A1 | c.792T>C (p.Ser264=) c.954T>C (p.Ser318=) | |
| 6 | g.6248318A>T | CA448645908 | F13A1 | c.792T>A (p.Ser264=) c.954T>A (p.Ser318=) | |
| 6 | g.6248319G>A | CA362740258 | F13A1 | c.791C>T (p.Ser264Phe) c.953C>T (p.Ser318Phe) | dbSNP gnomAD v2 |
| 6 | g.6248319G>C | CA362740259 | F13A1 | c.791C>G (p.Ser264Cys) c.953C>G (p.Ser318Cys) | |
| 6 | g.6248319G= | CA1608002820 | F13A1 | c.791C= (p.Ser264=) c.953C= (p.Ser318=) | |
| 6 | g.6248319G>T | CA362740260 | F13A1 | c.791C>A (p.Ser264Tyr) c.953C>A (p.Ser318Tyr) | |
| 6 | g.6248320A>C | CA362740261 | F13A1 | c.790T>G (p.Ser264Ala) c.952T>G (p.Ser318Ala) | |
| 6 | g.6248320A>G | CA362740262 | F13A1 | c.790T>C (p.Ser264Pro) c.952T>C (p.Ser318Pro) | |
| 6 | g.6248320A>T | CA362740263 | F13A1 | c.790T>A (p.Ser264Thr) c.952T>A (p.Ser318Thr) | |
| 6 | g.6248321C>A | CA3624555 | F13A1 | c.789G>T (p.Gly263=) c.951G>T (p.Gly317=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6248321C= | CA1608002821 | F13A1 | c.789G= (p.Gly263=) c.951G= (p.Gly317=) | |
| 6 | g.6248321C>G | CA3624554 | F13A1 | c.789G>C (p.Gly263=) c.951G>C (p.Gly317=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6248321C>T | CA448645909 | F13A1 | c.789G>A (p.Gly263=) c.951G>A (p.Gly317=) | |
| 6 | g.6248322C>A | CA362740264 | F13A1 | c.788G>T (p.Gly263Val) c.950G>T (p.Gly317Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.6248322C= | CA1608002822 | F13A1 | c.788G= (p.Gly263=) c.950G= (p.Gly317=) | |
| 6 | g.6248322C>G | CA362740265 | F13A1 | c.788G>C (p.Gly263Ala) c.950G>C (p.Gly317Ala) | |
| 6 | g.6248322C>T | CA362740266 | F13A1 | c.788G>A (p.Gly263Glu) c.950G>A (p.Gly317Glu) | gnomAD v4 |
| 6 | g.6248323C>A | CA362740269 | F13A1 | c.787G>T (p.Gly263Trp) c.949G>T (p.Gly317Trp) | |
| 6 | g.6248323C= | CA1608002823 | F13A1 | c.787G= (p.Gly263=) c.949G= (p.Gly317=) | |
| 6 | g.6248323C>G | CA362740268 | F13A1 | c.787G>C (p.Gly263Arg) c.949G>C (p.Gly317Arg) | |
| 6 | g.6248323C>T | CA362740267 | F13A1 | c.787G>A (p.Gly263Arg) c.949G>A (p.Gly317Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6248324C>A | CA448645910 | F13A1 | c.786G>T (p.Val262=) c.948G>T (p.Val316=) | dbSNP |
| 6 | g.6248324C= | CA1608002824 | F13A1 | c.786G= (p.Val262=) c.948G= (p.Val316=) | |
| 6 | g.6248324C>G | CA448645911 | F13A1 | c.786G>C (p.Val262=) c.948G>C (p.Val316=) | |
| 6 | g.6248324C>T | CA134394027 | F13A1 | c.786G>A (p.Val262=) c.948G>A (p.Val316=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248325A>C | CA362740270 | F13A1 | c.785T>G (p.Val262Gly) c.947T>G (p.Val316Gly) | |
| 6 | g.6248325A>G | CA362740271 | F13A1 | c.785T>C (p.Val262Ala) c.947T>C (p.Val316Ala) | |
| 6 | g.6248325A>T | CA362740272 | F13A1 | c.785T>A (p.Val262Glu) c.947T>A (p.Val316Glu) | |
| 6 | g.6248326C>A | CA362740273 | F13A1 | c.784G>T (p.Val262Leu) c.946G>T (p.Val316Leu) | gnomAD v4 |
| 6 | g.6248326C>G | CA362740274 | F13A1 | c.784G>C (p.Val262Leu) c.946G>C (p.Val316Leu) | |
| 6 | g.6248326C>T | CA362740275 | F13A1 | c.784G>A (p.Val262Met) c.946G>A (p.Val316Met) | gnomAD v4 |
| 6 | g.6248327A>C | CA448645912 | F13A1 | c.783T>G (p.Arg261=) c.945T>G (p.Arg315=) | |
| 6 | g.6248327A>G | CA448645913 | F13A1 | c.783T>C (p.Arg261=) c.945T>C (p.Arg315=) | |
| 6 | g.6248327A>T | CA448645914 | F13A1 | c.783T>A (p.Arg261=) c.945T>A (p.Arg315=) | gnomAD v4 |
| 6 | g.6248328C>A | CA362740276 | F13A1 | c.782G>T (p.Arg261Leu) c.944G>T (p.Arg315Leu) | dbSNP |
| 6 | g.6248328C= | CA1608002825 | F13A1 | c.782G= (p.Arg261=) c.944G= (p.Arg315=) | |
| 6 | g.6248328C>G | CA362740277 | F13A1 | c.782G>C (p.Arg261Pro) c.944G>C (p.Arg315Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6248328C>T | CA126633 | F13A1 | c.782G>A (p.Arg261His) c.944G>A (p.Arg315His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.6248329G>A | CA362740278 | F13A1 | c.781C>T (p.Arg261Cys) c.943C>T (p.Arg315Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248329G>C | CA362740279 | F13A1 | c.781C>G (p.Arg261Gly) c.943C>G (p.Arg315Gly) | |
| 6 | g.6248329G= | CA1608002826 | F13A1 | c.781C= (p.Arg261=) c.943C= (p.Arg315=) | |
| 6 | g.6248329G>T | CA362740280 | F13A1 | c.781C>A (p.Arg261Ser) c.943C>A (p.Arg315Ser) | |
| 6 | g.6248330G>A | CA448645915 | F13A1 | c.780C>T (p.Ser260=) c.942C>T (p.Ser314=) | |
| 6 | g.6248330G>C | CA362740281 | F13A1 | c.780C>G (p.Ser260Arg) c.942C>G (p.Ser314Arg) | |
| 6 | g.6248330G>T | CA362740282 | F13A1 | c.780C>A (p.Ser260Arg) c.942C>A (p.Ser314Arg) | |
| 6 | g.6248331C>A | CA362740283 | F13A1 | c.779G>T (p.Ser260Ile) c.941G>T (p.Ser314Ile) | |
| 6 | g.6248331C>G | CA362740284 | F13A1 | c.779G>C (p.Ser260Thr) c.941G>C (p.Ser314Thr) | |
| 6 | g.6248331C>T | CA362740285 | F13A1 | c.779G>A (p.Ser260Asn) c.941G>A (p.Ser314Asn) | |
| 6 | g.6248332T>A | CA362740286 | F13A1 | c.778A>T (p.Ser260Cys) c.940A>T (p.Ser314Cys) | |
| 6 | g.6248332T>C | CA362740287 | F13A1 | c.778A>G (p.Ser260Gly) c.940A>G (p.Ser314Gly) | |
| 6 | g.6248332T>G | CA362740288 | F13A1 | c.778A>C (p.Ser260Arg) c.940A>C (p.Ser314Arg) |