17 | g.63942737_63942764dup | CA2639308147 | SCN4A | c.4288+71_4288+98dup (n.4288+71_4288+98dup)
| gnomAD v4 |
17 | g.63942738_63942744del | CA2576355471 | SCN4A | c.4288+86_4288+92del (n.4288+86_4288+92del)
| |
17 | g.63942739G>A | CA2639308176 | SCN4A | c.4288+87C>T (n.4288+87C>T)
| gnomAD v4 |
17 | g.63942739G>T | CA2639308177 | SCN4A | c.4288+87C>A (n.4288+87C>A)
| gnomAD v4 |
17 | g.63942740C>A | CA2639308180 | SCN4A | c.4288+86G>T (n.4288+86G>T)
| gnomAD v4 |
17 | g.63942740C>G | CA2639308182 | SCN4A | c.4288+86G>C (n.4288+86G>C)
| gnomAD v4 |
17 | g.63942740C>T | CA2576355474 | SCN4A | c.4288+86G>A (n.4288+86G>A)
| gnomAD v4 |
17 | g.63942740_63942752del | CA2639308179 | SCN4A | c.4288+74_4288+86del (n.4288+74_4288+86del)
| gnomAD v4 |
17 | g.63942741A>G | CA2639308183 | SCN4A | c.4288+85T>C (n.4288+85T>C)
| gnomAD v4 |
17 | g.63942742G>A | CA2270161614 | SCN4A | c.4288+84C>T (n.4288+84C>T)
| dbSNP |
17 | g.63942742G= | CA2270161613 | SCN4A | c.4288+84C= (n.4288+84C=)
| |
17 | g.63942742G>T | CA2639308184 | SCN4A | c.4288+84C>A (n.4288+84C>A)
| gnomAD v4 |
17 | g.63942743G>A | CA292958019 | SCN4A | c.4288+83C>T (n.4288+83C>T)
| dbSNP gnomAD v4 |
17 | g.63942743G= | CA2270161615 | SCN4A | c.4288+83C= (n.4288+83C=)
| |
17 | g.63942744G>C | CA627150518 | SCN4A | c.4288+82C>G (n.4288+82C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942744G= | CA2270161616 | SCN4A | c.4288+82C= (n.4288+82C=)
| |
17 | g.63942744G>T | CA2576355475 | SCN4A | c.4288+82C>A (n.4288+82C>A)
| gnomAD v4 |
17 | g.63942745G>A | CA2576355476 | SCN4A | c.4288+81C>T (n.4288+81C>T)
| gnomAD v4 |
17 | g.63942745G>T | CA2639308188 | SCN4A | c.4288+81C>A (n.4288+81C>A)
| gnomAD v4 |
17 | g.63942746C>A | CA2639308189 | SCN4A | c.4288+80G>T (n.4288+80G>T)
| gnomAD v4 |
17 | g.63942746C>T | CA2576355477 | SCN4A | c.4288+80G>A (n.4288+80G>A)
| gnomAD v4 |
17 | g.63942748G>A | CA2270161618 | SCN4A | c.4288+78C>T (n.4288+78C>T)
| dbSNP gnomAD v4 |
17 | g.63942748G>C | CA2639308190 | SCN4A | c.4288+78C>G (n.4288+78C>G)
| gnomAD v4 |
17 | g.63942748G= | CA2270161617 | SCN4A | c.4288+78C= (n.4288+78C=)
| |
17 | g.63942748G>T | CA2576355478 | SCN4A | c.4288+78C>A (n.4288+78C>A)
| gnomAD v4 |
17 | g.63942748_63942756delinsGGTGTGTCC | CA2270161619 | SCN4A | c.4288+70_4288+78delinsGGACACACC (n.4288+70_4288+78delinsGGACACACC)
| |
17 | g.63942749G>A | CA292958020 | SCN4A | c.4288+77C>T (n.4288+77C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942749G= | CA2270161621 | SCN4A | c.4288+77C= (n.4288+77C=)
| |
17 | g.63942749G>T | CA2639308196 | SCN4A | c.4288+77C>A (n.4288+77C>A)
| gnomAD v4 |
17 | g.63942753_63942754del | CA2639308193 | SCN4A | c.4288+76_4288+77del (n.4288+76_4288+77del)
| gnomAD v4 |
17 | g.63942754_63942761dup | CA2639308192 | SCN4A | c.4288+70_4288+77dup (n.4288+70_4288+77dup)
| gnomAD v4 |
17 | g.63942754_63942761del | CA2270161620 | SCN4A | c.4288+70_4288+77del (n.4288+70_4288+77del)
| dbSNP |
17 | g.63942750T>C | CA914196888 | SCN4A | c.4288+76A>G (n.4288+76A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942750T>G | CA2270161623 | SCN4A | c.4288+76A>C (n.4288+76A>C)
| dbSNP gnomAD v4 |
17 | g.63942750T= | CA2270161622 | SCN4A | c.4288+76A= (n.4288+76A=)
| |
17 | g.63942751G>T | CA2576355479 | SCN4A | c.4288+75C>A (n.4288+75C>A)
| |
17 | g.63942753G>A | CA2576355480 | SCN4A | c.4288+73C>T (n.4288+73C>T)
| |
17 | g.63942753G>T | CA2639308198 | SCN4A | c.4288+73C>A (n.4288+73C>A)
| gnomAD v4 |
17 | g.63942754T>C | CA2576355481 | SCN4A | c.4288+72A>G (n.4288+72A>G)
| gnomAD v4 |
17 | g.63942755C>A | CA2639308202 | SCN4A | c.4288+71G>T (n.4288+71G>T)
| gnomAD v4 |
17 | g.63942755_63942756insGC | CA2639308200 | SCN4A | c.4288+71_4288+72insCG (n.4288+71_4288+72insCG)
| gnomAD v4 |
17 | g.63942756C>A | CA2639308204 | SCN4A | c.4288+70G>T (n.4288+70G>T)
| gnomAD v4 |
17 | g.63942756C= | CA2270161624 | SCN4A | c.4288+70G= (n.4288+70G=)
| |
17 | g.63942756C>T | CA292958021 | SCN4A | c.4288+70G>A (n.4288+70G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942757G>A | CA292958023 | SCN4A | c.4288+69C>T (n.4288+69C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942757G>C | CA2810127064 | SCN4A | c.4288+69C>G (n.4288+69C>G)
| |
17 | g.63942757G= | CA2270161625 | SCN4A | c.4288+69C= (n.4288+69C=)
| |
17 | g.63942757G>T | CA2576355482 | SCN4A | c.4288+69C>A (n.4288+69C>A)
| gnomAD v4 |
17 | g.63942758T>C | CA2270161627 | SCN4A | c.4288+68A>G (n.4288+68A>G)
| dbSNP gnomAD v4 |
17 | g.63942758T= | CA2270161626 | SCN4A | c.4288+68A= (n.4288+68A=)
| |
17 | g.63942759G>A | CA2639308207 | SCN4A | c.4288+67C>T (n.4288+67C>T)
| gnomAD v4 |
17 | g.63942759G>T | CA2841434465 | SCN4A | c.4288+67C>A (n.4288+67C>A)
| |
17 | g.63942760T>A | CA2639308208 | SCN4A | c.4288+66A>T (n.4288+66A>T)
| gnomAD v4 |
17 | g.63942760_63942761insCATTAAA | CA2639308209 | SCN4A | c.4288+65_4288+66insTTTAATG (n.4288+65_4288+66insTTTAATG)
| gnomAD v4 |
17 | g.63942761G>A | CA2270161629 | SCN4A | c.4288+65C>T (n.4288+65C>T)
| dbSNP gnomAD v4 |
17 | g.63942761G= | CA2270161628 | SCN4A | c.4288+65C= (n.4288+65C=)
| |
17 | g.63942762A>G | CA2639308210 | SCN4A | c.4288+64T>C (n.4288+64T>C)
| gnomAD v4 |
17 | g.63942763G>A | CA292958024 | SCN4A | c.4288+63C>T (n.4288+63C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942763G>C | CA2270161631 | SCN4A | c.4288+63C>G (n.4288+63C>G)
| dbSNP |
17 | g.63942763G= | CA2270161630 | SCN4A | c.4288+63C= (n.4288+63C=)
| |
17 | g.63942763G>T | CA2576355483 | SCN4A | c.4288+63C>A (n.4288+63C>A)
| gnomAD v4 |
17 | g.63942764G>A | CA2639308212 | SCN4A | c.4288+62C>T (n.4288+62C>T)
| gnomAD v4 |
17 | g.63942764G>T | CA2639308213 | SCN4A | c.4288+62C>A (n.4288+62C>A)
| gnomAD v4 |
17 | g.63942766T>G | CA2576355484 | SCN4A | c.4288+60A>C (n.4288+60A>C)
| |
17 | g.63942767G>A | CA2576355485 | SCN4A | c.4288+59C>T (n.4288+59C>T)
| |
17 | g.63942767G>C | CA292958027 | SCN4A | c.4288+59C>G (n.4288+59C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942767G= | CA2270161632 | SCN4A | c.4288+59C= (n.4288+59C=)
| |
17 | g.63942767G>T | CA2576355486 | SCN4A | c.4288+59C>A (n.4288+59C>A)
| |
17 | g.63942768G>T | CA2639308215 | SCN4A | c.4288+58C>A (n.4288+58C>A)
| gnomAD v4 |
17 | g.63942769G>A | CA774007779 | SCN4A | c.4288+57C>T (n.4288+57C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942769G= | CA2270161633 | SCN4A | c.4288+57C= (n.4288+57C=)
| |
17 | g.63942769G>T | CA2639308217 | SCN4A | c.4288+57C>A (n.4288+57C>A)
| gnomAD v4 |
17 | g.63942770T>C | CA2841434466 | SCN4A | c.4288+56A>G (n.4288+56A>G)
| |
17 | g.63942771C>A | CA2639308219 | SCN4A | c.4288+55G>T (n.4288+55G>T)
| gnomAD v4 |
17 | g.63942772T>A | CA2639308220 | SCN4A | c.4288+54A>T (n.4288+54A>T)
| gnomAD v4 |
17 | g.63942773T>C | CA985439695 | SCN4A | c.4288+53A>G (n.4288+53A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942773T= | CA2270161634 | SCN4A | c.4288+53A= (n.4288+53A=)
| |
17 | g.63942774C>A | CA2639308221 | SCN4A | c.4288+52G>T (n.4288+52G>T)
| gnomAD v4 |
17 | g.63942774C>T | CA2639308222 | SCN4A | c.4288+52G>A (n.4288+52G>A)
| gnomAD v4 |
17 | g.63942775C>A | CA2639308224 | SCN4A | c.4288+51G>T (n.4288+51G>T)
| gnomAD v4 |
17 | g.63942775C>T | CA2639308225 | SCN4A | c.4288+51G>A (n.4288+51G>A)
| gnomAD v4 |
17 | g.63942776C>A | CA2838851100 | SCN4A | c.4288+50G>T (n.4288+50G>T)
| |
17 | g.63942776C= | CA2270161635 | SCN4A | c.4288+50G= (n.4288+50G=)
| |
17 | g.63942776C>T | CA8709009 | SCN4A | c.4288+50G>A (n.4288+50G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942777G>A | CA8709010 | SCN4A | c.4288+49C>T (n.4288+49C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942777G>C | CA2639308226 | SCN4A | c.4288+49C>G (n.4288+49C>G)
| gnomAD v4 |
17 | g.63942777G= | CA2270161636 | SCN4A | c.4288+49C= (n.4288+49C=)
| |
17 | g.63942777G>T | CA2639308228 | SCN4A | c.4288+49C>A (n.4288+49C>A)
| gnomAD v4 |
17 | g.63942778A>G | CA2639308229 | SCN4A | c.4288+48T>C (n.4288+48T>C)
| gnomAD v4 |
17 | g.63942779G>C | CA8709011 | SCN4A | c.4288+47C>G (n.4288+47C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942779G= | CA2270161637 | SCN4A | c.4288+47C= (n.4288+47C=)
| |
17 | g.63942779G>T | CA2639308231 | SCN4A | c.4288+47C>A (n.4288+47C>A)
| gnomAD v4 |
17 | g.63942780T>G | CA2270161639 | SCN4A | c.4288+46A>C (n.4288+46A>C)
| dbSNP |
17 | g.63942780T= | CA2270161638 | SCN4A | c.4288+46A= (n.4288+46A=)
| |
17 | g.63942781G>A | CA2576355487 | SCN4A | c.4288+45C>T (n.4288+45C>T)
| |
17 | g.63942781G>T | CA2566949780 | SCN4A | c.4288+45C>A (n.4288+45C>A)
| gnomAD v4 |
17 | g.63942782C>A | CA627150481 | SCN4A | c.4288+44G>T (n.4288+44G>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942782C= | CA2270161640 | SCN4A | c.4288+44G= (n.4288+44G=)
| |
17 | g.63942782C>T | CA2596764786 | SCN4A | c.4288+44G>A (n.4288+44G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942787G>A | CA8709012 | SCN4A | c.4288+39C>T (n.4288+39C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942787G= | CA2270161641 | SCN4A | c.4288+39C= (n.4288+39C=)
| |
17 | g.63942787G>T | CA2639308237 | SCN4A | c.4288+39C>A (n.4288+39C>A)
| gnomAD v4 |
17 | g.63942788C>T | CA2639308238 | SCN4A | c.4288+38G>A (n.4288+38G>A)
| gnomAD v4 |
17 | g.63942789T>C | CA2576355488 | SCN4A | c.4288+37A>G (n.4288+37A>G)
| |
17 | g.63942790C>A | CA2639308239 | SCN4A | c.4288+36G>T (n.4288+36G>T)
| gnomAD v4 |
17 | g.63942790C>T | CA2639308240 | SCN4A | c.4288+36G>A (n.4288+36G>A)
| gnomAD v4 |
17 | g.63942792G>A | CA985439704 | SCN4A | c.4288+34C>T (n.4288+34C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942792G>C | CA8709013 | SCN4A | c.4288+34C>G (n.4288+34C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942792G= | CA2270161642 | SCN4A | c.4288+34C= (n.4288+34C=)
| |
17 | g.63942793T>C | CA2270161644 | SCN4A | c.4288+33A>G (n.4288+33A>G)
| dbSNP |
17 | g.63942793T= | CA2270161643 | SCN4A | c.4288+33A= (n.4288+33A=)
| |
17 | g.63942793dup | CA2270161645 | SCN4A | c.4288+33dup (n.4288+33dup)
| dbSNP |
17 | g.63942794G>A | CA2639308241 | SCN4A | c.4288+32C>T (n.4288+32C>T)
| gnomAD v4 |
17 | g.63942794G>T | CA2841434467 | SCN4A | c.4288+32C>A (n.4288+32C>A)
| |
17 | g.63942795C= | CA2270161646 | SCN4A | c.4288+31G= (n.4288+31G=)
| |
17 | g.63942795C>T | CA627150485 | SCN4A | c.4288+31G>A (n.4288+31G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942796T>C | CA8709014 | SCN4A | c.4288+30A>G (n.4288+30A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942796T= | CA2270161647 | SCN4A | c.4288+30A= (n.4288+30A=)
| |
17 | g.63942797G>T | CA2639308245 | SCN4A | c.4288+29C>A (n.4288+29C>A)
| gnomAD v4 |
17 | g.63942798C>A | CA2639308246 | SCN4A | c.4288+28G>T (n.4288+28G>T)
| gnomAD v4 |
17 | g.63942798C>T | CA2841434468 | SCN4A | c.4288+28G>A (n.4288+28G>A)
| |
17 | g.63942799C>T | CA2639308247 | SCN4A | c.4288+27G>A (n.4288+27G>A)
| gnomAD v4 |
17 | g.63942800C>A | CA2841434469 | SCN4A | c.4288+26G>T (n.4288+26G>T)
| |
17 | g.63942800C= | CA2270161648 | SCN4A | c.4288+26G= (n.4288+26G=)
| |
17 | g.63942800C>T | CA627150486 | SCN4A | c.4288+26G>A (n.4288+26G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942801T>C | CA292958063 | SCN4A | c.4288+25A>G (n.4288+25A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942801T= | CA2270161649 | SCN4A | c.4288+25A= (n.4288+25A=)
| |
17 | g.63942802G>T | CA2841434470 | SCN4A | c.4288+24C>A (n.4288+24C>A)
| |
17 | g.63942803C>A | CA627150488 | SCN4A | c.4288+23G>T (n.4288+23G>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942803C= | CA2270161650 | SCN4A | c.4288+23G= (n.4288+23G=)
| |
17 | g.63942803C>T | CA2270161651 | SCN4A | c.4288+23G>A (n.4288+23G>A)
| dbSNP |
17 | g.63942804C>A | CA2639308253 | SCN4A | c.4288+22G>T (n.4288+22G>T)
| gnomAD v4 |
17 | g.63942804C= | CA2270161652 | SCN4A | c.4288+22G= (n.4288+22G=)
| |
17 | g.63942804C>G | CA2639308254 | SCN4A | c.4288+22G>C (n.4288+22G>C)
| gnomAD v4 |
17 | g.63942804C>T | CA8709015 | SCN4A | c.4288+22G>A (n.4288+22G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942805G>A | CA8709016 | SCN4A | c.4288+21C>T (n.4288+21C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63942805G>C | CA985439707 | SCN4A | c.4288+21C>G (n.4288+21C>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942805G= | CA2270161653 | SCN4A | c.4288+21C= (n.4288+21C=)
| |
17 | g.63942805G>T | CA627150489 | SCN4A | c.4288+21C>A (n.4288+21C>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942806G>A | CA2639308263 | SCN4A | c.4288+20C>T (n.4288+20C>T)
| gnomAD v4 |
17 | g.63942806G>T | CA2733864572 | SCN4A | c.4288+20C>A (n.4288+20C>A)
| dbSNP |
17 | g.63942808C>A | CA2810127076 | SCN4A | c.4288+18G>T (n.4288+18G>T)
| |
17 | g.63942808C>T | CA2639308265 | SCN4A | c.4288+18G>A (n.4288+18G>A)
| gnomAD v4 |
17 | g.63942809C>A | CA2270161655 | SCN4A | c.4288+17G>T (n.4288+17G>T)
| dbSNP |
17 | g.63942809C= | CA2270161654 | SCN4A | c.4288+17G= (n.4288+17G=)
| |
17 | g.63942809C>T | CA985439708 | SCN4A | c.4288+17G>A (n.4288+17G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942810A>C | CA2639308267 | SCN4A | c.4288+16T>G (n.4288+16T>G)
| gnomAD v4 |
17 | g.63942810A>G | CA2739268339 | SCN4A | c.4288+16T>C (n.4288+16T>C)
| ClinVar |
17 | g.63942811G>C | CA2639308272 | SCN4A | c.4288+15C>G (n.4288+15C>G)
| gnomAD v4 |
17 | g.63942811G= | CA2270161656 | SCN4A | c.4288+15C= (n.4288+15C=)
| |
17 | g.63942811G>T | CA292958064 | SCN4A | c.4288+15C>A (n.4288+15C>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942812C= | CA2270161657 | SCN4A | c.4288+14G= (n.4288+14G=)
| |
17 | g.63942812C>G | CA774007804 | SCN4A | c.4288+14G>C (n.4288+14G>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942812C>T | CA627150490 | SCN4A | c.4288+14G>A (n.4288+14G>A)
| dbSNP gnomAD v2 |
17 | g.63942813C>A | CA2839892164 | SCN4A | c.4288+13G>T (n.4288+13G>T)
| |
17 | g.63942814C= | CA2270161658 | SCN4A | c.4288+12G= (n.4288+12G=)
| |
17 | g.63942814C>T | CA8709017 | SCN4A | c.4288+12G>A (n.4288+12G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942815G>A | CA8709018 | SCN4A | c.4288+11C>T (n.4288+11C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63942815G= | CA2270161660 | SCN4A | c.4288+11C= (n.4288+11C=)
| |
17 | g.63942815G>T | CA292958098 | SCN4A | c.4288+11C>A (n.4288+11C>A)
| dbSNP |
17 | g.63942815_63942816delinsGC | CA2270161659 | SCN4A | c.4288+10_4288+11delinsGC (n.4288+10_4288+11delinsGC)
| |
17 | g.63942816C>A | CA155083 | SCN4A | c.4288+10G>T (n.4288+10G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942816C= | CA2270161661 | SCN4A | c.4288+10G= (n.4288+10G=)
| |
17 | g.63942816C>T | CA2270161662 | SCN4A | c.4288+10G>A (n.4288+10G>A)
| dbSNP |
17 | g.63942819del | CA8709019 | SCN4A | c.4288+10del (n.4288+10del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942818C= | CA2270161663 | SCN4A | c.4288+8G= (n.4288+8G=)
| |
17 | g.63942818C>T | CA2270161664 | SCN4A | c.4288+8G>A (n.4288+8G>A)
| ClinVar dbSNP gnomAD v4 |
17 | g.63942819C>A | CA2639308282 | SCN4A | c.4288+7G>T (n.4288+7G>T)
| gnomAD v4 |
17 | g.63942819C= | CA2270161665 | SCN4A | c.4288+7G= (n.4288+7G=)
| |
17 | g.63942819C>G | CA8709021 | SCN4A | c.4288+7G>C (n.4288+7G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942819C>T | CA8709020 | SCN4A | c.4288+7G>A (n.4288+7G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63942820_63942821del | CA2841434471 | SCN4A | c.4288+6_4288+7del (n.4288+6_4288+7del)
| |
17 | g.63942820G>A | CA8709022 | SCN4A | c.4288+6C>T (n.4288+6C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942820G>C | CA2810127081 | SCN4A | c.4288+6C>G (n.4288+6C>G)
| |
17 | g.63942820G= | CA2270161666 | SCN4A | c.4288+6C= (n.4288+6C=)
| |
17 | g.63942820G>T | CA2639308291 | SCN4A | c.4288+6C>A (n.4288+6C>A)
| dbSNP gnomAD v4 |
17 | g.63942821C>T | CA2639308293 | SCN4A | c.4288+5G>A (n.4288+5G>A)
| gnomAD v4 |
17 | g.63942823C= | CA2270161667 | SCN4A | c.4288+3G= (n.4288+3G=)
| |
17 | g.63942823C>T | CA774007821 | SCN4A | c.4288+3G>A (n.4288+3G>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942824A>C | CA400616309 | SCN4A | c.4288+2T>G (n.4288+2T>G)
| |
17 | g.63942824A>G | CA400616308 | SCN4A | c.4288+2T>C (n.4288+2T>C)
| |
17 | g.63942824A>T | CA400616307 | SCN4A | c.4288+2T>A (n.4288+2T>A)
| |
17 | g.63942825C>A | CA400616310 | SCN4A | c.4288+1G>T (n.4288+1G>T)
| gnomAD v4 |
17 | g.63942825C>G | CA400616312 | SCN4A | c.4288+1G>C (n.4288+1G>C)
| gnomAD v4 |
17 | g.63942825C>T | CA400616311 | SCN4A | c.4288+1G>A (n.4288+1G>A)
| gnomAD v4 |
17 | g.63942826C>A | CA400616313 | SCN4A | c.4288G>T (p.Gly1430Cys)
| |
17 | g.63942826C= | CA2270161668 | SCN4A | c.4288G= (p.Gly1430=)
| |
17 | g.63942826C>G | CA400616314 | SCN4A | c.4288G>C (p.Gly1430Arg)
| |
17 | g.63942826C>T | CA400616315 | SCN4A | c.4288G>A (p.Gly1430Ser)
| dbSNP gnomAD v4 |
17 | g.63942827C>A | CA501214689 | SCN4A | c.4287G>T (p.Val1429=)
| |
17 | g.63942827C>G | CA501214691 | SCN4A | c.4287G>C (p.Val1429=)
| |
17 | g.63942827C>T | CA501214693 | SCN4A | c.4287G>A (p.Val1429=)
| |
17 | g.63942828A= | CA2270161669 | SCN4A | c.4286T= (p.Val1429=)
| |
17 | g.63942828A>C | CA400616316 | SCN4A | c.4286T>G (p.Val1429Gly)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.63942828A>G | CA400616317 | SCN4A | c.4286T>C (p.Val1429Ala)
| ClinVar dbSNP gnomAD v4 |
17 | g.63942828A>T | CA400616318 | SCN4A | c.4286T>A (p.Val1429Glu)
| |
17 | g.63942829C>A | CA400616319 | SCN4A | c.4285G>T (p.Val1429Leu)
| |
17 | g.63942829C>G | CA400616320 | SCN4A | c.4285G>C (p.Val1429Leu)
| |
17 | g.63942829C>T | CA400616321 | SCN4A | c.4285G>A (p.Val1429Met)
| |
17 | g.63942830A>C | CA400616322 | SCN4A | c.4284T>G (p.Ile1428Met)
| |
17 | g.63942830A>G | CA501214707 | SCN4A | c.4284T>C (p.Ile1428=)
| gnomAD v4 |
17 | g.63942830A>T | CA501214709 | SCN4A | c.4284T>A (p.Ile1428=)
| |
17 | g.63942831A= | CA2270161670 | SCN4A | c.4283T= (p.Ile1428=)
| |
17 | g.63942831A>C | CA400616325 | SCN4A | c.4283T>G (p.Ile1428Ser)
| |
17 | g.63942831A>G | CA400616324 | SCN4A | c.4283T>C (p.Ile1428Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942831A>T | CA400616323 | SCN4A | c.4283T>A (p.Ile1428Asn)
| |
17 | g.63942832T>A | CA400616326 | SCN4A | c.4282A>T (p.Ile1428Phe)
| |
17 | g.63942832T>C | CA8709023 | SCN4A | c.4282A>G (p.Ile1428Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942832T>G | CA400616327 | SCN4A | c.4282A>C (p.Ile1428Leu)
| |
17 | g.63942832T= | CA2270161671 | SCN4A | c.4282A= (p.Ile1428=)
| |
17 | g.63942833G>A | CA501214722 | SCN4A | c.4281C>T (p.Ser1427=)
| |
17 | g.63942833G>C | CA501214724 | SCN4A | c.4281C>G (p.Ser1427=)
| |
17 | g.63942833G>T | CA501214727 | SCN4A | c.4281C>A (p.Ser1427=)
| |
17 | g.63942834G>A | CA400616328 | SCN4A | c.4280C>T (p.Ser1427Phe)
| ClinVar dbSNP |
17 | g.63942834G>C | CA400616329 | SCN4A | c.4280C>G (p.Ser1427Cys)
| |
17 | g.63942834G= | CA2270161672 | SCN4A | c.4280C= (p.Ser1427=)
| |
17 | g.63942834G>T | CA400616330 | SCN4A | c.4280C>A (p.Ser1427Tyr)
| |
17 | g.63942835A= | CA2270161673 | SCN4A | c.4279T= (p.Ser1427=)
| |
17 | g.63942835A>C | CA400616331 | SCN4A | c.4279T>G (p.Ser1427Ala)
| |
17 | g.63942835A>G | CA400616332 | SCN4A | c.4279T>C (p.Ser1427Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942835A>T | CA400616333 | SCN4A | c.4279T>A (p.Ser1427Thr)
| |
17 | g.63942836C>A | CA501214738 | SCN4A | c.4278G>T (p.Leu1426=)
| ClinVar dbSNP |
17 | g.63942836C= | CA2270161674 | SCN4A | c.4278G= (p.Leu1426=)
| |
17 | g.63942836C>G | CA501214740 | SCN4A | c.4278G>C (p.Leu1426=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942836C>T | CA501214742 | SCN4A | c.4278G>A (p.Leu1426=)
| ClinVar |
17 | g.63942837A= | CA2270161675 | SCN4A | c.4277T= (p.Leu1426=)
| |
17 | g.63942837A>C | CA400616334 | SCN4A | c.4277T>G (p.Leu1426Arg)
| |
17 | g.63942837A>G | CA8709024 | SCN4A | c.4277T>C (p.Leu1426Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942837A>T | CA400616335 | SCN4A | c.4277T>A (p.Leu1426Gln)
| |
17 | g.63942838G>A | CA501214749 | SCN4A | c.4276C>T (p.Leu1426=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942838G>C | CA400616337 | SCN4A | c.4276C>G (p.Leu1426Val)
| |
17 | g.63942838G= | CA2270161676 | SCN4A | c.4276C= (p.Leu1426=)
| |
17 | g.63942838G>T | CA400616336 | SCN4A | c.4276C>A (p.Leu1426Met)
| |
17 | g.63942839del | CA2639308312 | SCN4A | c.4276del (p.Leu1426CysfsTer11)
| gnomAD v4 |
17 | g.63942839G>A | CA501214754 | SCN4A | c.4275C>T (p.Ile1425=)
| |
17 | g.63942839G>C | CA400616338 | SCN4A | c.4275C>G (p.Ile1425Met)
| |
17 | g.63942839G>T | CA501214758 | SCN4A | c.4275C>A (p.Ile1425=)
| |