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 |
|---|---|---|---|---|---|
| 17 | g.63944608T>C | CA2639309714 | SCN4A | c.3912+65A>G (n.3912+65A>G) c.3916+61A>G (n.3916+61A>G) | gnomAD v4 |
| 17 | g.63944609G>A | CA2639309716 | SCN4A | c.3912+64C>T (n.3912+64C>T) c.3916+60C>T (n.3916+60C>T) | gnomAD v4 |
| 17 | g.63944609G>T | CA2639309717 | SCN4A | c.3912+64C>A (n.3912+64C>A) c.3916+60C>A (n.3916+60C>A) | gnomAD v4 |
| 17 | g.63944610G>A | CA2639309719 | SCN4A | c.3912+63C>T (n.3912+63C>T) c.3916+59C>T (n.3916+59C>T) | gnomAD v4 |
| 17 | g.63944610G>C | CA2639309721 | SCN4A | c.3912+63C>G (n.3912+63C>G) c.3916+59C>G (n.3916+59C>G) | gnomAD v4 |
| 17 | g.63944610G>T | CA2639309722 | SCN4A | c.3912+63C>A (n.3912+63C>A) c.3916+59C>A (n.3916+59C>A) | gnomAD v4 |
| 17 | g.63944612C>A | CA2639309725 | SCN4A | c.3912+61G>T (n.3912+61G>T) c.3916+57G>T (n.3916+57G>T) | gnomAD v4 |
| 17 | g.63944615del | CA2639309726 | SCN4A | c.3912+60del (n.3912+60del) c.3916+56del (n.3916+56del) | gnomAD v4 |
| 17 | g.63944615A>G | CA2639309729 | SCN4A | c.3912+58T>C (n.3912+58T>C) c.3916+54T>C (n.3916+54T>C) | dbSNP gnomAD v4 |
| 17 | g.63944616G>A | CA2639309730 | SCN4A | c.3912+57C>T (n.3912+57C>T) c.3916+53C>T (n.3916+53C>T) | gnomAD v4 |
| 17 | g.63944616G>T | CA2639309731 | SCN4A | c.3912+57C>A (n.3912+57C>A) c.3916+53C>A (n.3916+53C>A) | gnomAD v4 |
| 17 | g.63944617G>T | CA2639309733 | SCN4A | c.3912+56C>A (n.3912+56C>A) c.3916+52C>A (n.3916+52C>A) | gnomAD v4 |
| 17 | g.63944618del | CA2639309738 | SCN4A | c.3912+55del (n.3912+55del) c.3916+51del (n.3916+51del) | gnomAD v4 |
| 17 | g.63944618A>G | CA2639309737 | SCN4A | c.3912+55T>C (n.3912+55T>C) c.3916+51T>C (n.3916+51T>C) | gnomAD v4 |
| 17 | g.63944619G>T | CA2576355550 | SCN4A | c.3912+54C>A (n.3912+54C>A) c.3916+50C>A (n.3916+50C>A) | gnomAD v4 |
| 17 | g.63944620G>T | CA2576355551 | SCN4A | c.3912+53C>A (n.3912+53C>A) c.3916+49C>A (n.3916+49C>A) | gnomAD v4 |
| 17 | g.63944621C>A | CA2639309744 | SCN4A | c.3912+52G>T (n.3912+52G>T) c.3916+48G>T (n.3916+48G>T) | gnomAD v4 |
| 17 | g.63944621C>T | CA2639309745 | SCN4A | c.3912+52G>A (n.3912+52G>A) c.3916+48G>A (n.3916+48G>A) | gnomAD v4 |
| 17 | g.63944623G>A | CA627150498 | SCN4A | c.3912+50C>T (n.3912+50C>T) c.3916+46C>T (n.3916+46C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944623G= | CA2270162574 | SCN4A | c.3912+50C= (n.3912+50C=) c.3916+46C= (n.3916+46C=) | |
| 17 | g.63944623G>T | CA2639309746 | SCN4A | c.3912+50C>A (n.3912+50C>A) c.3916+46C>A (n.3916+46C>A) | gnomAD v4 |
| 17 | g.63944624G>A | CA627150499 | SCN4A | c.3912+49C>T (n.3912+49C>T) c.3916+45C>T (n.3916+45C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944624G= | CA2270162576 | SCN4A | c.3912+49C= (n.3912+49C=) c.3916+45C= (n.3916+45C=) | |
| 17 | g.63944626G>A | CA2639309750 | SCN4A | c.3912+47C>T (n.3912+47C>T) c.3916+43C>T (n.3916+43C>T) | gnomAD v4 |
| 17 | g.63944628del | CA2639309749 | SCN4A | c.3912+47del (n.3912+47del) c.3916+43del (n.3916+43del) | gnomAD v4 |
| 17 | g.63944627G>A | CA2810127393 | SCN4A | c.3912+46C>T (n.3912+46C>T) c.3916+42C>T (n.3916+42C>T) | |
| 17 | g.63944627G>T | CA2639309752 | SCN4A | c.3912+46C>A (n.3912+46C>A) c.3916+42C>A (n.3916+42C>A) | gnomAD v4 |
| 17 | g.63944628G>A | CA2639309754 | SCN4A | c.3912+45C>T (n.3912+45C>T) c.3916+41C>T (n.3916+41C>T) | gnomAD v4 |
| 17 | g.63944628G= | CA2270162580 | SCN4A | c.3912+45C= (n.3912+45C=) c.3916+41C= (n.3916+41C=) | |
| 17 | g.63944628G>T | CA774008656 | SCN4A | c.3912+45C>A (n.3912+45C>A) c.3916+41C>A (n.3916+41C>A) | dbSNP |
| 17 | g.63944629A>G | CA2639309756 | SCN4A | c.3912+44T>C (n.3912+44T>C) c.3916+40T>C (n.3916+40T>C) | gnomAD v4 |
| 17 | g.63944630G>A | CA8709106 | SCN4A | c.3912+43C>T (n.3912+43C>T) c.3916+39C>T (n.3916+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944630G= | CA2270162582 | SCN4A | c.3912+43C= (n.3912+43C=) c.3916+39C= (n.3916+39C=) | |
| 17 | g.63944631G>A | CA2270162586 | SCN4A | c.3912+42C>T (n.3912+42C>T) c.3916+38C>T (n.3916+38C>T) | dbSNP gnomAD v4 |
| 17 | g.63944631G= | CA2270162585 | SCN4A | c.3912+42C= (n.3912+42C=) c.3916+38C= (n.3916+38C=) | |
| 17 | g.63944631G>T | CA2639309760 | SCN4A | c.3912+42C>A (n.3912+42C>A) c.3916+38C>A (n.3916+38C>A) | gnomAD v4 |
| 17 | g.63944631_63944632delinsGC | CA2270162583 | SCN4A | c.3912+41_3912+42delinsGC (n.3912+41_3912+42delinsGC) c.3916+37_3916+38delinsGC (n.3916+37_3916+38delinsGC) | |
| 17 | g.63944634del | CA8709107 | SCN4A | c.3912+41del (n.3912+41del) c.3916+37del (n.3916+37del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63944633C= | CA2270162588 | SCN4A | c.3912+40G= (n.3912+40G=) c.3916+36G= (n.3916+36G=) | |
| 17 | g.63944633C>T | CA8709108 | SCN4A | c.3912+40G>A (n.3912+40G>A) c.3916+36G>A (n.3916+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944634C>A | CA2639309767 | SCN4A | c.3912+39G>T (n.3912+39G>T) c.3916+35G>T (n.3916+35G>T) | gnomAD v4 |
| 17 | g.63944634C>T | CA2639309765 | SCN4A | c.3912+39G>A (n.3912+39G>A) c.3916+35G>A (n.3916+35G>A) | gnomAD v4 |
| 17 | g.63944635A= | CA2270162589 | SCN4A | c.3912+38T= (n.3912+38T=) c.3916+34T= (n.3916+34T=) | |
| 17 | g.63944635A>G | CA8709109 | SCN4A | c.3912+38T>C (n.3912+38T>C) c.3916+34T>C (n.3916+34T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63944636G>A | CA2639309770 | SCN4A | c.3912+37C>T (n.3912+37C>T) c.3916+33C>T (n.3916+33C>T) | gnomAD v4 |
| 17 | g.63944636G>T | CA2639309771 | SCN4A | c.3912+37C>A (n.3912+37C>A) c.3916+33C>A (n.3916+33C>A) | gnomAD v4 |
| 17 | g.63944637C>A | CA8709110 | SCN4A | c.3912+36G>T (n.3912+36G>T) c.3916+32G>T (n.3916+32G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63944637C= | CA2270162590 | SCN4A | c.3912+36G= (n.3912+36G=) c.3916+32G= (n.3916+32G=) | |
| 17 | g.63944638A= | CA2270162592 | SCN4A | c.3912+35T= (n.3912+35T=) c.3916+31T= (n.3916+31T=) | |
| 17 | g.63944638A>T | CA627150500 | SCN4A | c.3912+35T>A (n.3912+35T>A) c.3916+31T>A (n.3916+31T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63944639C>A | CA2639309777 | SCN4A | c.3912+34G>T (n.3912+34G>T) c.3916+30G>T (n.3916+30G>T) | gnomAD v4 |
| 17 | g.63944640C>A | CA2639309779 | SCN4A | c.3912+33G>T (n.3912+33G>T) c.3916+29G>T (n.3916+29G>T) | gnomAD v4 |
| 17 | g.63944640C= | CA2270162596 | SCN4A | c.3912+33G= (n.3912+33G=) c.3916+29G= (n.3916+29G=) | |
| 17 | g.63944640C>G | CA8709113 | SCN4A | c.3912+33G>C (n.3912+33G>C) c.3916+29G>C (n.3916+29G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63944640C>T | CA8709112 | SCN4A | c.3912+33G>A (n.3912+33G>A) c.3916+29G>A (n.3916+29G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944640_63944641delinsCG | CA2270162594 | SCN4A | c.3912+32_3912+33delinsCG (n.3912+32_3912+33delinsCG) c.3916+28_3916+29delinsCG (n.3916+28_3916+29delinsCG) | |
| 17 | g.63944641G>A | CA8709114 | SCN4A | c.3912+32C>T (n.3912+32C>T) c.3916+28C>T (n.3916+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944641G>C | CA2270162598 | SCN4A | c.3912+32C>G (n.3912+32C>G) c.3916+28C>G (n.3916+28C>G) | dbSNP gnomAD v4 |
| 17 | g.63944641G= | CA2270162599 | SCN4A | c.3912+32C= (n.3912+32C=) c.3916+28C= (n.3916+28C=) | |
| 17 | g.63944641G>T | CA2270162597 | SCN4A | c.3912+32C>A (n.3912+32C>A) c.3916+28C>A (n.3916+28C>A) | dbSNP gnomAD v4 |
| 17 | g.63944643del | CA8709111 | SCN4A | c.3912+32del (n.3912+32del) c.3916+28del (n.3916+28del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944642G>A | CA2639309790 | SCN4A | c.3912+31C>T (n.3912+31C>T) c.3916+27C>T (n.3916+27C>T) | gnomAD v4 |
| 17 | g.63944642G>T | CA2639309791 | SCN4A | c.3912+31C>A (n.3912+31C>A) c.3916+27C>A (n.3916+27C>A) | gnomAD v4 |
| 17 | g.63944643G>A | CA627150501 | SCN4A | c.3912+30C>T (n.3912+30C>T) c.3916+26C>T (n.3916+26C>T) | dbSNP gnomAD v2 |
| 17 | g.63944643G= | CA2270162601 | SCN4A | c.3912+30C= (n.3912+30C=) c.3916+26C= (n.3916+26C=) | |
| 17 | g.63944643G>T | CA2639309792 | SCN4A | c.3912+30C>A (n.3912+30C>A) c.3916+26C>A (n.3916+26C>A) | gnomAD v4 |
| 17 | g.63944644A= | CA2270162602 | SCN4A | c.3912+29T= (n.3912+29T=) c.3916+25T= (n.3916+25T=) | |
| 17 | g.63944644A>T | CA2270162603 | SCN4A | c.3912+29T>A (n.3912+29T>A) c.3916+25T>A (n.3916+25T>A) | dbSNP gnomAD v4 |
| 17 | g.63944645G>T | CA2639309793 | SCN4A | c.3912+28C>A (n.3912+28C>A) c.3916+24C>A (n.3916+24C>A) | gnomAD v4 |
| 17 | g.63944646G>A | CA2639309795 | SCN4A | c.3912+27C>T (n.3912+27C>T) c.3916+23C>T (n.3916+23C>T) | gnomAD v4 |
| 17 | g.63944646G>T | CA2639309797 | SCN4A | c.3912+27C>A (n.3912+27C>A) c.3916+23C>A (n.3916+23C>A) | gnomAD v4 |
| 17 | g.63944647G>A | CA627150502 | SCN4A | c.3912+26C>T (n.3912+26C>T) c.3916+22C>T (n.3916+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63944647G= | CA2270162604 | SCN4A | c.3912+26C= (n.3912+26C=) c.3916+22C= (n.3916+22C=) | |
| 17 | g.63944648C>A | CA2639309800 | SCN4A | c.3912+25G>T (n.3912+25G>T) c.3916+21G>T (n.3916+21G>T) | gnomAD v4 |
| 17 | g.63944648C= | CA2270162606 | SCN4A | c.3912+25G= (n.3912+25G=) c.3916+21G= (n.3916+21G=) | |
| 17 | g.63944648C>T | CA985428392 | SCN4A | c.3912+25G>A (n.3912+25G>A) c.3916+21G>A (n.3916+21G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63944649C>A | CA2639309804 | SCN4A | c.3912+24G>T (n.3912+24G>T) c.3916+20G>T (n.3916+20G>T) | gnomAD v4 |
| 17 | g.63944649C>T | CA2639309806 | SCN4A | c.3912+24G>A (n.3912+24G>A) c.3916+20G>A (n.3916+20G>A) | gnomAD v4 |
| 17 | g.63944650C>A | CA2639309808 | SCN4A | c.3912+23G>T (n.3912+23G>T) c.3916+19G>T (n.3916+19G>T) | gnomAD v4 |
| 17 | g.63944650C= | CA2270162608 | SCN4A | c.3912+23G= (n.3912+23G=) c.3916+19G= (n.3916+19G=) | |
| 17 | g.63944650C>T | CA8709115 | SCN4A | c.3912+23G>A (n.3912+23G>A) c.3916+19G>A (n.3916+19G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944651G>A | CA8709116 | SCN4A | c.3912+22C>T (n.3912+22C>T) c.3916+18C>T (n.3916+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944651G= | CA2270162609 | SCN4A | c.3912+22C= (n.3912+22C=) c.3916+18C= (n.3916+18C=) | |
| 17 | g.63944651G>T | CA2639309813 | SCN4A | c.3912+22C>A (n.3912+22C>A) c.3916+18C>A (n.3916+18C>A) | gnomAD v4 |
| 17 | g.63944652A= | CA2270162610 | SCN4A | c.3912+21T= (n.3912+21T=) c.3916+17T= (n.3916+17T=) | |
| 17 | g.63944652A>G | CA627150503 | SCN4A | c.3912+21T>C (n.3912+21T>C) c.3916+17T>C (n.3916+17T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63944653G>A | CA8709117 | SCN4A | c.3912+20C>T (n.3912+20C>T) c.3916+16C>T (n.3916+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944653G= | CA2270162612 | SCN4A | c.3912+20C= (n.3912+20C=) c.3916+16C= (n.3916+16C=) | |
| 17 | g.63944653G>T | CA2639309817 | SCN4A | c.3912+20C>A (n.3912+20C>A) c.3916+16C>A (n.3916+16C>A) | gnomAD v4 |
| 17 | g.63944654G>A | CA2639309820 | SCN4A | c.3912+19C>T (n.3912+19C>T) c.3916+15C>T (n.3916+15C>T) | gnomAD v4 |
| 17 | g.63944654G>C | CA2576355552 | SCN4A | c.3912+19C>G (n.3912+19C>G) c.3916+15C>G (n.3916+15C>G) | |
| 17 | g.63944654G= | CA2270162613 | SCN4A | c.3912+19C= (n.3912+19C=) c.3916+15C= (n.3916+15C=) | |
| 17 | g.63944654G>T | CA627150504 | SCN4A | c.3912+19C>A (n.3912+19C>A) c.3916+15C>A (n.3916+15C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63944655G>C | CA2576355553 | SCN4A | c.3912+18C>G (n.3912+18C>G) c.3916+14C>G (n.3916+14C>G) | gnomAD v4 |
| 17 | g.63944655G>T | CA2639309823 | SCN4A | c.3912+18C>A (n.3912+18C>A) c.3916+14C>A (n.3916+14C>A) | gnomAD v4 |
| 17 | g.63944656G>A | CA985428401 | SCN4A | c.3912+17C>T (n.3912+17C>T) c.3916+13C>T (n.3916+13C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63944656G= | CA2270162615 | SCN4A | c.3912+17C= (n.3912+17C=) c.3916+13C= (n.3916+13C=) | |
| 17 | g.63944656G>T | CA292959305 | SCN4A | c.3912+17C>A (n.3912+17C>A) c.3916+13C>A (n.3916+13C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63944657C>A | CA2639309827 | SCN4A | c.3912+16G>T (n.3912+16G>T) c.3916+12G>T (n.3916+12G>T) | gnomAD v4 |
| 17 | g.63944657C= | CA2270162616 | SCN4A | c.3912+16G= (n.3912+16G=) c.3916+12G= (n.3916+12G=) | |
| 17 | g.63944657C>T | CA985428403 | SCN4A | c.3912+16G>A (n.3912+16G>A) c.3916+12G>A (n.3916+12G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63944659G>T | CA2639309830 | SCN4A | c.3912+14C>A (n.3912+14C>A) c.3916+10C>A (n.3916+10C>A) | gnomAD v4 |
| 17 | g.63944660G>T | CA2639309832 | SCN4A | c.3912+13C>A (n.3912+13C>A) c.3916+9C>A (n.3916+9C>A) | gnomAD v4 |
| 17 | g.63944661G>C | CA627150505 | SCN4A | c.3912+12C>G (n.3912+12C>G) c.3916+8C>G (n.3916+8C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63944661G= | CA2270162617 | SCN4A | c.3912+12C= (n.3912+12C=) c.3916+8C= (n.3916+8C=) | |
| 17 | g.63944661G>T | CA2639309862 | SCN4A | c.3912+12C>A (n.3912+12C>A) c.3916+8C>A (n.3916+8C>A) | gnomAD v4 |
| 17 | g.63944662C>A | CA2639309865 | SCN4A | c.3912+11G>T (n.3912+11G>T) c.3916+7G>T (n.3916+7G>T) | gnomAD v4 |
| 17 | g.63944662C>G | CA2576355554 | SCN4A | c.3912+11G>C (n.3912+11G>C) c.3916+7G>C (n.3916+7G>C) | |
| 17 | g.63944663T>C | CA2639309868 | SCN4A | c.3912+10A>G (n.3912+10A>G) c.3916+6A>G (n.3916+6A>G) | gnomAD v4 |
| 17 | g.63944663T>G | CA774008674 | SCN4A | c.3912+10A>C (n.3912+10A>C) c.3916+6A>C (n.3916+6A>C) | ClinVar dbSNP |
| 17 | g.63944663T= | CA2270162620 | SCN4A | c.3912+10A= (n.3912+10A=) c.3916+6A= (n.3916+6A=) | |
| 17 | g.63944663_63944667delinsC | CA2695226830 | SCN4A | c.3912+6_3912+10delinsG (n.3912+6_3912+10delinsG) c.3916+2_3916+6delinsG (n.3916+2_3916+6delinsG) | |
| 17 | g.63944664G>A | CA645580709 | SCN4A | c.3912+9C>T (n.3912+9C>T) c.3916+5C>T (n.3916+5C>T) | dbSNP gnomAD v4 COSMIC |
| 17 | g.63944667A>C | CA400617187 | SCN4A | c.3912+6T>G (n.3912+6T>G) c.3916+2T>G (n.3916+2T>G) | |
| 17 | g.63944667A>G | CA400617188 | SCN4A | c.3912+6T>C (n.3912+6T>C) c.3916+2T>C (n.3916+2T>C) | |
| 17 | g.63944667A>T | CA400617189 | SCN4A | c.3912+6T>A (n.3912+6T>A) c.3916+2T>A (n.3916+2T>A) | |
| 17 | g.63944668C>A | CA400617191 | SCN4A | c.3912+5G>T (n.3912+5G>T) c.3916+1G>T (n.3916+1G>T) | |
| 17 | g.63944668C>G | CA400617192 | SCN4A | c.3912+5G>C (n.3912+5G>C) c.3916+1G>C (n.3916+1G>C) | |
| 17 | g.63944668C>T | CA400617190 | SCN4A | c.3912+5G>A (n.3912+5G>A) c.3916+1G>A (n.3916+1G>A) | |
| 17 | g.63944669T>A | CA400617193 | SCN4A | c.3912+4A>T (n.3912+4A>T) c.3916A>T (p.Arg1306Trp) | |
| 17 | g.63944669T>C | CA400617194 | SCN4A | c.3912+4A>G (n.3912+4A>G) c.3916A>G (p.Arg1306Gly) | dbSNP gnomAD v4 |
| 17 | g.63944670del | CA2573130391 | SCN4A | c.3912+3del (n.3912+3del) c.3915del (p.Met1305IlefsTer8) | |
| 17 | g.63944670C>A | CA400617195 | SCN4A | c.3912+3G>T (n.3912+3G>T) c.3915G>T (p.Met1305Ile) | gnomAD v4 |
| 17 | g.63944670C= | CA2270162621 | SCN4A | c.3912+3G= (n.3912+3G=) c.3915G= (p.Met1305=) | |
| 17 | g.63944670C>G | CA400617196 | SCN4A | c.3912+3G>C (n.3912+3G>C) c.3915G>C (p.Met1305Ile) | gnomAD v4 |
| 17 | g.63944670C>T | CA400617197 | SCN4A | c.3912+3G>A (n.3912+3G>A) c.3915G>A (p.Met1305Ile) | ClinVar dbSNP |
| 17 | g.63944671A= | CA2270162623 | SCN4A | c.3912+2T= (n.3912+2T=) c.3914T= (p.Met1305=) | |
| 17 | g.63944671A>C | CA400617200 | SCN4A | c.3912+2T>G (n.3912+2T>G) c.3914T>G (p.Met1305Arg) | |
| 17 | g.63944671A>G | CA400617198 | SCN4A | c.3912+2T>C (n.3912+2T>C) c.3914T>C (p.Met1305Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63944671A>T | CA400617199 | SCN4A | c.3912+2T>A (n.3912+2T>A) c.3914T>A (p.Met1305Lys) | |
| 17 | g.63944671_63944674delinsATCT | CA2270162622 | SCN4A | c.3911_3912+2delinsAGAT c.3911_3914delinsAGAT (p.Lys1304=) | |
| 17 | g.63944672T>A | CA400617201 | SCN4A | c.3912+1A>T (n.3912+1A>T) c.3913A>T (p.Met1305Leu) | |
| 17 | g.63944672T>C | CA400617202 | SCN4A | c.3912+1A>G (n.3912+1A>G) c.3913A>G (p.Met1305Val) | |
| 17 | g.63944672T>G | CA400617203 | SCN4A | c.3912+1A>C (n.3912+1A>C) c.3913A>C (p.Met1305Leu) | |
| 17 | g.63944681_63944683del | CA627150506 | SCN4A | c.3911_3912+1del c.3911_3913del (p.Lys1304del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944673C>A | CA400617204 | SCN4A | c.3912G>T (p.Lys1304Asn) | gnomAD v4 |
| 17 | g.63944673C= | CA2270162625 | SCN4A | c.3912G= (p.Lys1304=) | |
| 17 | g.63944673C>G | CA400617205 | SCN4A | c.3912G>C (p.Lys1304Asn) | |
| 17 | g.63944673C>T | CA501217670 | SCN4A | c.3912G>A (p.Lys1304=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63944674T>A | CA400617206 | SCN4A | c.3911A>T (p.Lys1304Met) | gnomAD v4 |
| 17 | g.63944674T>C | CA400617208 | SCN4A | c.3911A>G (p.Lys1304Arg) | |
| 17 | g.63944674T>G | CA400617207 | SCN4A | c.3911A>C (p.Lys1304Thr) | |
| 17 | g.63944675T>A | CA400617209 | SCN4A | c.3910A>T (p.Lys1304Ter) | dbSNP |
| 17 | g.63944675T>C | CA400617211 | SCN4A | c.3910A>G (p.Lys1304Glu) | |
| 17 | g.63944675T>G | CA400617210 | SCN4A | c.3910A>C (p.Lys1304Gln) | |
| 17 | g.63944675T= | CA2270162627 | SCN4A | c.3910A= (p.Lys1304=) | |
| 17 | g.63944676C>A | CA400617212 | SCN4A | c.3909G>T (p.Lys1303Asn) | gnomAD v4 |
| 17 | g.63944676C>G | CA400617213 | SCN4A | c.3909G>C (p.Lys1303Asn) | |
| 17 | g.63944676C>T | CA501217687 | SCN4A | c.3909G>A (p.Lys1303=) | |
| 17 | g.63944677T>A | CA400617214 | SCN4A | c.3908A>T (p.Lys1303Met) | |
| 17 | g.63944677T>C | CA400617215 | SCN4A | c.3908A>G (p.Lys1303Arg) | ClinVar |
| 17 | g.63944677T>G | CA400617216 | SCN4A | c.3908A>C (p.Lys1303Thr) | |
| 17 | g.63944678T>A | CA400617217 | SCN4A | c.3907A>T (p.Lys1303Ter) | dbSNP |
| 17 | g.63944678T>C | CA400617218 | SCN4A | c.3907A>G (p.Lys1303Glu) | |
| 17 | g.63944678T>G | CA400617219 | SCN4A | c.3907A>C (p.Lys1303Gln) | |
| 17 | g.63944678T= | CA2270162628 | SCN4A | c.3907A= (p.Lys1303=) | |
| 17 | g.63944679C>A | CA400617220 | SCN4A | c.3906G>T (p.Lys1302Asn) | |
| 17 | g.63944679C= | CA2270162630 | SCN4A | c.3906G= (p.Lys1302=) | |
| 17 | g.63944679C>G | CA400617221 | SCN4A | c.3906G>C (p.Lys1302Asn) | ClinVar |
| 17 | g.63944679C>T | CA292959309 | SCN4A | c.3906G>A (p.Lys1302=) | dbSNP |
| 17 | g.63944680T>A | CA400617222 | SCN4A | c.3905A>T (p.Lys1302Met) | |
| 17 | g.63944680T>C | CA400617223 | SCN4A | c.3905A>G (p.Lys1302Arg) | |
| 17 | g.63944680T>G | CA400617224 | SCN4A | c.3905A>C (p.Lys1302Thr) | |
| 17 | g.63944681T>A | CA400617227 | SCN4A | c.3904A>T (p.Lys1302Ter) | dbSNP |
| 17 | g.63944681T>C | CA400617225 | SCN4A | c.3904A>G (p.Lys1302Glu) | ClinVar dbSNP |
| 17 | g.63944681T>G | CA400617226 | SCN4A | c.3904A>C (p.Lys1302Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63944681T= | CA2270162634 | SCN4A | c.3904A= (p.Lys1302=) | |
| 17 | g.63944681_63944684delinsTCTG | CA2270162633 | SCN4A | c.3901_3904delinsCAGA (p.Gln1301=) | |
| 17 | g.63944682C>A | CA400617228 | SCN4A | c.3903G>T (p.Gln1301His) | |
| 17 | g.63944682C>G | CA400617229 | SCN4A | c.3903G>C (p.Gln1301His) | |
| 17 | g.63944682C>T | CA501217716 | SCN4A | c.3903G>A (p.Gln1301=) | gnomAD v4 |
| 17 | g.63944685_63944687del | CA8709118 | SCN4A | c.3901_3903del (p.Gln1301del) | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.63944683T>A | CA400617230 | SCN4A | c.3902A>T (p.Gln1301Leu) | gnomAD v4 |
| 17 | g.63944683T>C | CA400617231 | SCN4A | c.3902A>G (p.Gln1301Arg) | |
| 17 | g.63944683T>G | CA400617232 | SCN4A | c.3902A>C (p.Gln1301Pro) | |
| 17 | g.63944684G>A | CA400617233 | SCN4A | c.3901C>T (p.Gln1301Ter) | |
| 17 | g.63944684G>C | CA400617234 | SCN4A | c.3901C>G (p.Gln1301Glu) | |
| 17 | g.63944684G>T | CA400617235 | SCN4A | c.3901C>A (p.Gln1301Lys) | |
| 17 | g.63944685C>A | CA400617236 | SCN4A | c.3900G>T (p.Gln1300His) | |
| 17 | g.63944685C>G | CA400617237 | SCN4A | c.3900G>C (p.Gln1300His) | gnomAD v4 |
| 17 | g.63944685C>T | CA501217730 | SCN4A | c.3900G>A (p.Gln1300=) | gnomAD v4 |
| 17 | g.63944686T>A | CA400617240 | SCN4A | c.3899A>T (p.Gln1300Leu) | dbSNP gnomAD v2 |
| 17 | g.63944686T>C | CA400617239 | SCN4A | c.3899A>G (p.Gln1300Arg) | |
| 17 | g.63944686T>G | CA400617238 | SCN4A | c.3899A>C (p.Gln1300Pro) | |
| 17 | g.63944686T= | CA2270162636 | SCN4A | c.3899A= (p.Gln1300=) | |
| 17 | g.63944687G>A | CA400617241 | SCN4A | c.3898C>T (p.Gln1300Ter) | |
| 17 | g.63944687G>C | CA400617242 | SCN4A | c.3898C>G (p.Gln1300Glu) | ClinVar dbSNP gnomAD v2 |
| 17 | g.63944687G= | CA2270162638 | SCN4A | c.3898C= (p.Gln1300=) | |
| 17 | g.63944687G>T | CA400617243 | SCN4A | c.3898C>A (p.Gln1300Lys) | |
| 17 | g.63944688G>A | CA501217745 | SCN4A | c.3897C>T (p.Asn1299=) | ClinVar gnomAD v4 |
| 17 | g.63944688G>C | CA400617244 | SCN4A | c.3897C>G (p.Asn1299Lys) | |
| 17 | g.63944688G= | CA2270162641 | SCN4A | c.3897C= (p.Asn1299=) | |
| 17 | g.63944688G>T | CA400617245 | SCN4A | c.3897C>A (p.Asn1299Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63944689T>A | CA400617246 | SCN4A | c.3896A>T (p.Asn1299Ile) | ClinVar dbSNP |
| 17 | g.63944689T>C | CA400617247 | SCN4A | c.3896A>G (p.Asn1299Ser) | gnomAD v4 |
| 17 | g.63944689T>G | CA400617248 | SCN4A | c.3896A>C (p.Asn1299Thr) | |
| 17 | g.63944690T>A | CA400617249 | SCN4A | c.3895A>T (p.Asn1299Tyr) | |
| 17 | g.63944690T>C | CA400617250 | SCN4A | c.3895A>G (p.Asn1299Asp) | |
| 17 | g.63944690T>G | CA400617251 | SCN4A | c.3895A>C (p.Asn1299His) | |
| 17 | g.63944691G>A | CA501217759 | SCN4A | c.3894C>T (p.Phe1298=) | |
| 17 | g.63944691G>C | CA400617252 | SCN4A | c.3894C>G (p.Phe1298Leu) | |
| 17 | g.63944691G>T | CA400617253 | SCN4A | c.3894C>A (p.Phe1298Leu) | |
| 17 | g.63944692A= | CA2270162643 | SCN4A | c.3893T= (p.Phe1298=) | |
| 17 | g.63944692A>C | CA10605700 | SCN4A | c.3893T>G (p.Phe1298Cys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63944692A>G | CA400617254 | SCN4A | c.3893T>C (p.Phe1298Ser) | dbSNP gnomAD v2 |
| 17 | g.63944692A>T | CA400617255 | SCN4A | c.3893T>A (p.Phe1298Tyr) | |
| 17 | g.63944693A>C | CA400617256 | SCN4A | c.3892T>G (p.Phe1298Val) | |
| 17 | g.63944693A>G | CA400617257 | SCN4A | c.3892T>C (p.Phe1298Leu) | |
| 17 | g.63944693A>T | CA400617258 | SCN4A | c.3892T>A (p.Phe1298Ile) | |
| 17 | g.63944694G>A | CA501217769 | SCN4A | c.3891C>T (p.Asn1297=) | |
| 17 | g.63944694G>C | CA400617259 | SCN4A | c.3891C>G (p.Asn1297Lys) | |
| 17 | g.63944694G= | CA2270162646 | SCN4A | c.3891C= (p.Asn1297=) | |
| 17 | g.63944694G>T | CA117854 | SCN4A | c.3891C>A (p.Asn1297Lys) | ClinVar dbSNP |
| 17 | g.63944695T>A | CA400617260 | SCN4A | c.3890A>T (p.Asn1297Ile) | |
| 17 | g.63944695T>C | CA400617261 | SCN4A | c.3890A>G (p.Asn1297Ser) | ClinVar gnomAD v4 |
| 17 | g.63944695T>G | CA400617262 | SCN4A | c.3890A>C (p.Asn1297Thr) | |
| 17 | g.63944696T>A | CA400617263 | SCN4A | c.3889A>T (p.Asn1297Tyr) | |
| 17 | g.63944696T>C | CA400617264 | SCN4A | c.3889A>G (p.Asn1297Asp) | |
| 17 | g.63944696T>G | CA400617265 | SCN4A | c.3889A>C (p.Asn1297His) | |
| 17 | g.63944697G>A | CA8709119 | SCN4A | c.3888C>T (p.Asp1296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944697G>C | CA400617266 | SCN4A | c.3888C>G (p.Asp1296Glu) | gnomAD v4 |
| 17 | g.63944697G= | CA2270162648 | SCN4A | c.3888C= (p.Asp1296=) | |
| 17 | g.63944697G>T | CA292959320 | SCN4A | c.3888C>A (p.Asp1296Glu) | dbSNP |
| 17 | g.63944698T>A | CA400617267 | SCN4A | c.3887A>T (p.Asp1296Val) | |
| 17 | g.63944698T>C | CA400617269 | SCN4A | c.3887A>G (p.Asp1296Gly) | |
| 17 | g.63944698T>G | CA400617268 | SCN4A | c.3887A>C (p.Asp1296Ala) | |
| 17 | g.63944699C>A | CA400617270 | SCN4A | c.3886G>T (p.Asp1296Tyr) | gnomAD v4 |
| 17 | g.63944699C>G | CA400617271 | SCN4A | c.3886G>C (p.Asp1296His) | |
| 17 | g.63944699C>T | CA400617272 | SCN4A | c.3886G>A (p.Asp1296Asn) | |
| 17 | g.63944700A= | CA2270162650 | SCN4A | c.3885T= (p.Ile1295=) | |
| 17 | g.63944700A>C | CA400617273 | SCN4A | c.3885T>G (p.Ile1295Met) | |
| 17 | g.63944700A>G | CA501217795 | SCN4A | c.3885T>C (p.Ile1295=) | dbSNP |
| 17 | g.63944700A>T | CA501217797 | SCN4A | c.3885T>A (p.Ile1295=) | |
| 17 | g.63944701A= | CA2270162652 | SCN4A | c.3884T= (p.Ile1295=) | |
| 17 | g.63944701A>C | CA400617274 | SCN4A | c.3884T>G (p.Ile1295Ser) | |
| 17 | g.63944701A>G | CA8709120 | SCN4A | c.3884T>C (p.Ile1295Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63944701A>T | CA400617275 | SCN4A | c.3884T>A (p.Ile1295Asn) | dbSNP |
| 17 | g.63944702T>A | CA400617276 | SCN4A | c.3883A>T (p.Ile1295Phe) | |
| 17 | g.63944702T>C | CA400617277 | SCN4A | c.3883A>G (p.Ile1295Val) | |
| 17 | g.63944702T>G | CA400617278 | SCN4A | c.3883A>C (p.Ile1295Leu) | |
| 17 | g.63944703G>A | CA501217807 | SCN4A | c.3882C>T (p.Ile1294=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63944703G>C | CA400617279 | SCN4A | c.3882C>G (p.Ile1294Met) | |
| 17 | g.63944703G= | CA2270162654 | SCN4A | c.3882C= (p.Ile1294=) | |
| 17 | g.63944703G>T | CA501217809 | SCN4A | c.3882C>A (p.Ile1294=) | |
| 17 | g.63944704A>C | CA400617282 | SCN4A | c.3881T>G (p.Ile1294Ser) | |
| 17 | g.63944704A>G | CA400617281 | SCN4A | c.3881T>C (p.Ile1294Thr) | |
| 17 | g.63944704A>T | CA400617280 | SCN4A | c.3881T>A (p.Ile1294Asn) | |
| 17 | g.63944705T>A | CA400617283 | SCN4A | c.3880A>T (p.Ile1294Phe) | |
| 17 | g.63944705T>C | CA400617284 | SCN4A | c.3880A>G (p.Ile1294Val) | gnomAD v4 |
| 17 | g.63944705T>G | CA400617285 | SCN4A | c.3880A>C (p.Ile1294Leu) | |
| 17 | g.63944706G>A | CA501217824 | SCN4A | c.3879C>T (p.Val1293=) | |
| 17 | g.63944706G>C | CA501217823 | SCN4A | c.3879C>G (p.Val1293=) | |
| 17 | g.63944706G= | CA2270162656 | SCN4A | c.3879C= (p.Val1293=) | |
| 17 | g.63944706G>T | CA501217821 | SCN4A | c.3879C>A (p.Val1293=) | dbSNP gnomAD v4 |
| 17 | g.63944707A>C | CA400617286 | SCN4A | c.3878T>G (p.Val1293Gly) | |
| 17 | g.63944707A>G | CA400617287 | SCN4A | c.3878T>C (p.Val1293Ala) | |
| 17 | g.63944707A>T | CA400617288 | SCN4A | c.3878T>A (p.Val1293Asp) | |
| 17 | g.63944708C>A | CA400617289 | SCN4A | c.3877G>T (p.Val1293Phe) | |
| 17 | g.63944708C= | CA2270162658 | SCN4A | c.3877G= (p.Val1293=) | |
| 17 | g.63944708C>G | CA400617290 | SCN4A | c.3877G>C (p.Val1293Leu) | ClinVar |
| 17 | g.63944708C>T | CA117846 | SCN4A | c.3877G>A (p.Val1293Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |