17 | g.63972473_63972570del | CA627150415 | SCN4A | c.273+1_274-1del
| gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972513_63972532delinsAGGCAGACAGATGGATGGAT | CA2270175886 | SCN4A | c.273+37_274-43delinsATCCATCCATCTGTCTGCCT (n.273+37_274-43delinsATCCATCCATCTGTCTGCCT)
| |
17 | g.63972524_63972542dup | CA2639312574 | SCN4A | c.273+37_274-44dup (n.273+37_274-44dup)
| gnomAD v4 |
17 | g.63972524_63972542del | CA8710223 | SCN4A | c.273+37_274-44del (n.273+37_274-44del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972520_63972524delinsCAGAT | CA2270175888 | SCN4A | c.273+45_274-50delinsATCTG (n.273+45_274-50delinsATCTG)
| |
17 | g.63972521_63972524del | CA8710225 | SCN4A | c.273+45_273+48del (n.273+45_273+48del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972531_63972534dup | CA2639312589 | SCN4A | c.273+44_273+47dup (n.273+44_273+47dup)
| gnomAD v4 |
17 | g.63972524T>C | CA2270175891 | SCN4A | c.273+45A>G (n.273+45A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63972524T= | CA2270175890 | SCN4A | c.273+45A= (n.273+45A=)
| |
17 | g.63972525G>A | CA2639312595 | SCN4A | c.273+44C>T (n.273+44C>T)
| gnomAD v4 |
17 | g.63972525_63972543dup | CA2639312591 | SCN4A | c.273+26_273+44dup (n.273+26_273+44dup)
| gnomAD v4 |
17 | g.63972526G= | CA2270175892 | SCN4A | c.273+43C= (n.273+43C=)
| |
17 | g.63972526G>T | CA8710226 | SCN4A | c.273+43C>A (n.273+43C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972527A= | CA2270175893 | SCN4A | c.273+42T= (n.273+42T=)
| |
17 | g.63972527A>C | CA2639312604 | SCN4A | c.273+42T>G (n.273+42T>G)
| gnomAD v4 |
17 | g.63972527A>G | CA8710227 | SCN4A | c.273+42T>C (n.273+42T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972527A>T | CA627150425 | SCN4A | c.273+42T>A (n.273+42T>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63972528T>A | CA8710228 | SCN4A | c.273+41A>T (n.273+41A>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972528T= | CA2270175894 | SCN4A | c.273+41A= (n.273+41A=)
| |
17 | g.63972529G>A | CA2639312612 | SCN4A | c.273+40C>T (n.273+40C>T)
| gnomAD v4 |
17 | g.63972530G= | CA2270175895 | SCN4A | c.273+39C= (n.273+39C=)
| |
17 | g.63972530G>T | CA627150426 | SCN4A | c.273+39C>A (n.273+39C>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63972533G>A | CA2270175897 | SCN4A | c.273+36C>T (n.273+36C>T)
| dbSNP |
17 | g.63972533G= | CA2270175896 | SCN4A | c.273+36C= (n.273+36C=)
| |
17 | g.63972534_63972537dup | CA2639312616 | SCN4A | c.273+33_273+36dup (n.273+33_273+36dup)
| gnomAD v4 |
17 | g.63972534G>A | CA2810128110 | SCN4A | c.273+35C>T (n.273+35C>T)
| |
17 | g.63972534_63972538delinsGCAGA | CA2270175898 | SCN4A | c.273+31_273+35delinsTCTGC (n.273+31_273+35delinsTCTGC)
| |
17 | g.63972535C= | CA2270175899 | SCN4A | c.273+34G= (n.273+34G=)
| |
17 | g.63972535C>G | CA2270175900 | SCN4A | c.273+34G>C (n.273+34G>C)
| dbSNP |
17 | g.63972543_63972546dup | CA627150427 | SCN4A | c.273+31_273+34dup (n.273+31_273+34dup)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63972543_63972546del | CA919876414 | SCN4A | c.273+31_273+34del (n.273+31_273+34del)
| dbSNP gnomAD v4 |
17 | g.63972539C>G | CA2810128111 | SCN4A | c.273+30G>C (n.273+30G>C)
| |
17 | g.63972540A>T | CA2639312625 | SCN4A | c.273+29T>A (n.273+29T>A)
| gnomAD v4 |
17 | g.63972541G>A | CA2639312628 | SCN4A | c.273+28C>T (n.273+28C>T)
| gnomAD v4 |
17 | g.63972541G>C | CA2270175902 | SCN4A | c.273+28C>G (n.273+28C>G)
| dbSNP gnomAD v4 |
17 | g.63972541G= | CA2270175901 | SCN4A | c.273+28C= (n.273+28C=)
| |
17 | g.63972543C= | CA2270175903 | SCN4A | c.273+26G= (n.273+26G=)
| |
17 | g.63972543C>G | CA774008779 | SCN4A | c.273+26G>C (n.273+26G>C)
| dbSNP |
17 | g.63972543C>T | CA2639312633 | SCN4A | c.273+26G>A (n.273+26G>A)
| gnomAD v4 |
17 | g.63972545G>A | CA8710229 | SCN4A | c.273+24C>T (n.273+24C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972545G= | CA2270175904 | SCN4A | c.273+24C= (n.273+24C=)
| |
17 | g.63972546_63972547delinsAG | CA2270175905 | SCN4A | c.273+22_273+23delinsCT (n.273+22_273+23delinsCT)
| |
17 | g.63972547G>A | CA292972874 | SCN4A | c.273+22C>T (n.273+22C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972547G= | CA2270175906 | SCN4A | c.273+22C= (n.273+22C=)
| |
17 | g.63972548del | CA8710230 | SCN4A | c.273+22del (n.273+22del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972548G>A | CA627150428 | SCN4A | c.273+21C>T (n.273+21C>T)
| dbSNP gnomAD v2 |
17 | g.63972548G= | CA2270175907 | SCN4A | c.273+21C= (n.273+21C=)
| |
17 | g.63972550del | CA2639312637 | SCN4A | c.273+20del (n.273+20del)
| gnomAD v4 |
17 | g.63972550A= | CA2270175908 | SCN4A | c.273+19T= (n.273+19T=)
| |
17 | g.63972550A>C | CA8710231 | SCN4A | c.273+19T>G (n.273+19T>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972550A>G | CA2639312646 | SCN4A | c.273+19T>C (n.273+19T>C)
| gnomAD v4 |
17 | g.63972551G>T | CA656835729 | SCN4A | c.273+18C>A (n.273+18C>A)
| gnomAD v4 COSMIC |
17 | g.63972552C>A | CA8710233 | SCN4A | c.273+17G>T (n.273+17G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972552C= | CA2270175909 | SCN4A | c.273+17G= (n.273+17G=)
| |
17 | g.63972552C>G | CA8710232 | SCN4A | c.273+17G>C (n.273+17G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972552C>T | CA8710234 | SCN4A | c.273+17G>A (n.273+17G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972553C= | CA2270175910 | SCN4A | c.273+16G= (n.273+16G=)
| |
17 | g.63972553C>T | CA8710235 | SCN4A | c.273+16G>A (n.273+16G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972555T>C | CA2639312665 | SCN4A | c.273+14A>G (n.273+14A>G)
| gnomAD v4 |
17 | g.63972556C>A | CA2639312666 | SCN4A | c.273+13G>T (n.273+13G>T)
| gnomAD v4 |
17 | g.63972557C>A | CA2639312667 | SCN4A | c.273+12G>T (n.273+12G>T)
| gnomAD v4 |
17 | g.63972557C= | CA2270175911 | SCN4A | c.273+12G= (n.273+12G=)
| |
17 | g.63972557C>T | CA2270175912 | SCN4A | c.273+12G>A (n.273+12G>A)
| dbSNP |
17 | g.63972558C>A | CA2639312668 | SCN4A | c.273+11G>T (n.273+11G>T)
| gnomAD v4 |
17 | g.63972558C>T | CA2639312669 | SCN4A | c.273+11G>A (n.273+11G>A)
| gnomAD v4 |
17 | g.63972559A= | CA2270175913 | SCN4A | c.273+10T= (n.273+10T=)
| |
17 | g.63972559A>T | CA8710236 | SCN4A | c.273+10T>A (n.273+10T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972560G>A | CA2639312672 | SCN4A | c.273+9C>T (n.273+9C>T)
| gnomAD v4 |
17 | g.63972561G>A | CA2639312673 | SCN4A | c.273+8C>T (n.273+8C>T)
| gnomAD v4 |
17 | g.63972561G= | CA2270175914 | SCN4A | c.273+8C= (n.273+8C=)
| |
17 | g.63972561G>T | CA774008786 | SCN4A | c.273+8C>A (n.273+8C>A)
| ClinVar dbSNP |
17 | g.63972562C>A | CA2639312674 | SCN4A | c.273+7G>T (n.273+7G>T)
| gnomAD v4 |
17 | g.63972562C= | CA2270175915 | SCN4A | c.273+7G= (n.273+7G=)
| |
17 | g.63972562C>T | CA8710237 | SCN4A | c.273+7G>A (n.273+7G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972564del | CA2576356272 | SCN4A | c.273+7del (n.273+7del)
| |
17 | g.63972567A>C | CA400640102 | SCN4A | c.273+2T>G (n.273+2T>G)
| |
17 | g.63972567A>G | CA400640103 | SCN4A | c.273+2T>C (n.273+2T>C)
| gnomAD v4 |
17 | g.63972567A>T | CA400640104 | SCN4A | c.273+2T>A (n.273+2T>A)
| |
17 | g.63972568C>A | CA8710238 | SCN4A | c.273+1G>T (n.273+1G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972568C= | CA2270175916 | SCN4A | c.273+1G= (n.273+1G=)
| |
17 | g.63972568C>G | CA400640105 | SCN4A | c.273+1G>C (n.273+1G>C)
| |
17 | g.63972568C>T | CA400640106 | SCN4A | c.273+1G>A (n.273+1G>A)
| gnomAD v4 |
17 | g.63972568_63972571delinsCCTT | CA2270175917 | SCN4A | c.271_273+1delinsAAGG
| |
17 | g.63972569C>A | CA400640107 | SCN4A | c.273G>T (p.Lys91Asn)
| gnomAD v4 |
17 | g.63972569C>G | CA400640108 | SCN4A | c.273G>C (p.Lys91Asn)
| |
17 | g.63972569C>T | CA501348991 | SCN4A | c.273G>A (p.Lys91=)
| gnomAD v4 |
17 | g.63972572_63972574del | CA292972882 | SCN4A | c.271_273del (p.Lys91del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972570T>A | CA400640109 | SCN4A | c.272A>T (p.Lys91Met)
| |
17 | g.63972570T>C | CA400640110 | SCN4A | c.272A>G (p.Lys91Arg)
| |
17 | g.63972570T>G | CA400640111 | SCN4A | c.272A>C (p.Lys91Thr)
| |
17 | g.63972571T>A | CA400640114 | SCN4A | c.271A>T (p.Lys91Ter)
| |
17 | g.63972571T>C | CA400640112 | SCN4A | c.271A>G (p.Lys91Glu)
| |
17 | g.63972571T>G | CA400640113 | SCN4A | c.271A>C (p.Lys91Gln)
| |
17 | g.63972572C>A | CA400640115 | SCN4A | c.270G>T (p.Lys90Asn)
| dbSNP gnomAD v4 |
17 | g.63972572C= | CA2270175919 | SCN4A | c.270G= (p.Lys90=)
| |
17 | g.63972572C>G | CA400640116 | SCN4A | c.270G>C (p.Lys90Asn)
| |
17 | g.63972572C>T | CA501348992 | SCN4A | c.270G>A (p.Lys90=)
| |
17 | g.63972572_63972574delinsCTT | CA2270175918 | SCN4A | c.268_270delinsAAG (p.Lys90=)
| |
17 | g.63972573T>A | CA400640117 | SCN4A | c.269A>T (p.Lys90Met)
| |
17 | g.63972573T>C | CA400640118 | SCN4A | c.269A>G (p.Lys90Arg)
| |
17 | g.63972573T>G | CA400640119 | SCN4A | c.269A>C (p.Lys90Thr)
| |
17 | g.63972573_63972574del | CA891863036 | SCN4A | c.268_269del (p.Lys90GlufsTer?)
| ClinVar dbSNP |
17 | g.63972574T>A | CA400640120 | SCN4A | c.268A>T (p.Lys90Ter)
| |
17 | g.63972574T>C | CA400640121 | SCN4A | c.268A>G (p.Lys90Glu)
| gnomAD v4 |
17 | g.63972574T>G | CA400640122 | SCN4A | c.268A>C (p.Lys90Gln)
| |
17 | g.63972575A>C | CA400640123 | SCN4A | c.267T>G (p.Asn89Lys)
| |
17 | g.63972575A>G | CA501348993 | SCN4A | c.267T>C (p.Asn89=)
| gnomAD v4 |
17 | g.63972575A>T | CA400640124 | SCN4A | c.267T>A (p.Asn89Lys)
| |
17 | g.63972576T>A | CA400640125 | SCN4A | c.266A>T (p.Asn89Ile)
| |
17 | g.63972576T>C | CA400640126 | SCN4A | c.266A>G (p.Asn89Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63972576T>G | CA400640127 | SCN4A | c.266A>C (p.Asn89Thr)
| |
17 | g.63972576T= | CA2270175920 | SCN4A | c.266A= (p.Asn89=)
| |
17 | g.63972577T>A | CA400640130 | SCN4A | c.265A>T (p.Asn89Tyr)
| |
17 | g.63972577T>C | CA400640129 | SCN4A | c.265A>G (p.Asn89Asp)
| COSMIC |
17 | g.63972577T>G | CA400640128 | SCN4A | c.265A>C (p.Asn89His)
| |
17 | g.63972578G>A | CA501348994 | SCN4A | c.264C>T (p.Ser88=)
| |
17 | g.63972578G>C | CA400640131 | SCN4A | c.264C>G (p.Ser88Arg)
| |
17 | g.63972578G>T | CA400640132 | SCN4A | c.264C>A (p.Ser88Arg)
| gnomAD v4 |
17 | g.63972579C>A | CA400640133 | SCN4A | c.263G>T (p.Ser88Ile)
| |
17 | g.63972579C>G | CA400640134 | SCN4A | c.263G>C (p.Ser88Thr)
| |
17 | g.63972579C>T | CA400640135 | SCN4A | c.263G>A (p.Ser88Asn)
| |
17 | g.63972580T>A | CA400640136 | SCN4A | c.262A>T (p.Ser88Cys)
| |
17 | g.63972580T>C | CA400640137 | SCN4A | c.262A>G (p.Ser88Gly)
| |
17 | g.63972580T>G | CA400640138 | SCN4A | c.262A>C (p.Ser88Arg)
| |
17 | g.63972581G>A | CA501348995 | SCN4A | c.261C>T (p.Tyr87=)
| |
17 | g.63972581G>C | CA400640139 | SCN4A | c.261C>G (p.Tyr87Ter)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63972581G= | CA2270175921 | SCN4A | c.261C= (p.Tyr87=)
| |
17 | g.63972581G>T | CA400640140 | SCN4A | c.261C>A (p.Tyr87Ter)
| |
17 | g.63972585_63972587del | CA2576356273 | SCN4A | c.259_261del (p.Tyr87del)
| gnomAD v4 |
17 | g.63972582T>A | CA400640141 | SCN4A | c.260A>T (p.Tyr87Phe)
| gnomAD v4 |
17 | g.63972582T>C | CA400640142 | SCN4A | c.260A>G (p.Tyr87Cys)
| |
17 | g.63972582T>G | CA400640143 | SCN4A | c.260A>C (p.Tyr87Ser)
| |
17 | g.63972583A= | CA2270175922 | SCN4A | c.259T= (p.Tyr87=)
| |
17 | g.63972583A>C | CA400640145 | SCN4A | c.259T>G (p.Tyr87Asp)
| |
17 | g.63972583A>G | CA8710239 | SCN4A | c.259T>C (p.Tyr87His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972583A>T | CA400640144 | SCN4A | c.259T>A (p.Tyr87Asn)
| |
17 | g.63972584G>A | CA8710240 | SCN4A | c.258C>T (p.Tyr86=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972584G>C | CA400640147 | SCN4A | c.258C>G (p.Tyr86Ter)
| |
17 | g.63972584G= | CA2270175923 | SCN4A | c.258C= (p.Tyr86=)
| |
17 | g.63972584G>T | CA400640146 | SCN4A | c.258C>A (p.Tyr86Ter)
| |
17 | g.63972585T>A | CA400640148 | SCN4A | c.257A>T (p.Tyr86Phe)
| |
17 | g.63972585T>C | CA8710241 | SCN4A | c.257A>G (p.Tyr86Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972585T>G | CA400640149 | SCN4A | c.257A>C (p.Tyr86Ser)
| |
17 | g.63972585T= | CA2270175924 | SCN4A | c.257A= (p.Tyr86=)
| |
17 | g.63972586A>C | CA400640150 | SCN4A | c.256T>G (p.Tyr86Asp)
| |
17 | g.63972586A>G | CA400640151 | SCN4A | c.256T>C (p.Tyr86His)
| |
17 | g.63972586A>T | CA400640152 | SCN4A | c.256T>A (p.Tyr86Asn)
| |
17 | g.63972587G>A | CA501348998 | SCN4A | c.255C>T (p.Pro85=)
| |
17 | g.63972587G>C | CA501348997 | SCN4A | c.255C>G (p.Pro85=)
| |
17 | g.63972587G>T | CA501348996 | SCN4A | c.255C>A (p.Pro85=)
| |
17 | g.63972588G>A | CA400640153 | SCN4A | c.254C>T (p.Pro85Leu)
| COSMIC |
17 | g.63972588G>C | CA400640154 | SCN4A | c.254C>G (p.Pro85Arg)
| |
17 | g.63972588G>T | CA400640155 | SCN4A | c.254C>A (p.Pro85His)
| |
17 | g.63972589G>A | CA400640156 | SCN4A | c.253C>T (p.Pro85Ser)
| |
17 | g.63972589G>C | CA400640157 | SCN4A | c.253C>G (p.Pro85Ala)
| |
17 | g.63972589G>T | CA400640158 | SCN4A | c.253C>A (p.Pro85Thr)
| |
17 | g.63972590A>C | CA400640159 | SCN4A | c.252T>G (p.Asp84Glu)
| |
17 | g.63972590A>G | CA501348999 | SCN4A | c.252T>C (p.Asp84=)
| |
17 | g.63972590A>T | CA400640160 | SCN4A | c.252T>A (p.Asp84Glu)
| |
17 | g.63972591T>A | CA400640161 | SCN4A | c.251A>T (p.Asp84Val)
| |
17 | g.63972591T>C | CA400640162 | SCN4A | c.251A>G (p.Asp84Gly)
| |
17 | g.63972591T>G | CA400640163 | SCN4A | c.251A>C (p.Asp84Ala)
| |
17 | g.63972592C>A | CA400640164 | SCN4A | c.250G>T (p.Asp84Tyr)
| |
17 | g.63972592C>G | CA400640165 | SCN4A | c.250G>C (p.Asp84His)
| |
17 | g.63972592C>T | CA400640166 | SCN4A | c.250G>A (p.Asp84Asn)
| |
17 | g.63972593C>A | CA501349000 | SCN4A | c.249G>T (p.Leu83=)
| |
17 | g.63972593C>G | CA501349001 | SCN4A | c.249G>C (p.Leu83=)
| |
17 | g.63972593C>T | CA501349002 | SCN4A | c.249G>A (p.Leu83=)
| |
17 | g.63972594A= | CA2270175925 | SCN4A | c.248T= (p.Leu83=)
| |
17 | g.63972594A>C | CA400640167 | SCN4A | c.248T>G (p.Leu83Arg)
| |
17 | g.63972594A>G | CA8710242 | SCN4A | c.248T>C (p.Leu83Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972594A>T | CA400640168 | SCN4A | c.248T>A (p.Leu83Gln)
| |
17 | g.63972595G>A | CA501349003 | SCN4A | c.247C>T (p.Leu83=)
| |
17 | g.63972595G>C | CA8710243 | SCN4A | c.247C>G (p.Leu83Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972595G= | CA2270175926 | SCN4A | c.247C= (p.Leu83=)
| |
17 | g.63972595G>T | CA400640169 | SCN4A | c.247C>A (p.Leu83Met)
| gnomAD v4 |
17 | g.63972596G>A | CA501349004 | SCN4A | c.246C>T (p.Asp82=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63972596G>C | CA400640170 | SCN4A | c.246C>G (p.Asp82Glu)
| |
17 | g.63972596G= | CA2270175927 | SCN4A | c.246C= (p.Asp82=)
| |
17 | g.63972596G>T | CA400640171 | SCN4A | c.246C>A (p.Asp82Glu)
| |
17 | g.63972597T>A | CA400640172 | SCN4A | c.245A>T (p.Asp82Val)
| |
17 | g.63972597T>C | CA400640174 | SCN4A | c.245A>G (p.Asp82Gly)
| |
17 | g.63972597T>G | CA400640173 | SCN4A | c.245A>C (p.Asp82Ala)
| |
17 | g.63972598C>A | CA400640175 | SCN4A | c.244G>T (p.Asp82Tyr)
| gnomAD v4 |
17 | g.63972598C>G | CA400640176 | SCN4A | c.244G>C (p.Asp82His)
| |
17 | g.63972598C>T | CA400640177 | SCN4A | c.244G>A (p.Asp82Asn)
| COSMIC |
17 | g.63972599C>A | CA292972884 | SCN4A | c.243G>T (p.Glu81Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972599C= | CA2270175928 | SCN4A | c.243G= (p.Glu81=)
| |
17 | g.63972599C>G | CA400640178 | SCN4A | c.243G>C (p.Glu81Asp)
| dbSNP |
17 | g.63972599C>T | CA501349005 | SCN4A | c.243G>A (p.Glu81=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972600T>A | CA400640179 | SCN4A | c.242A>T (p.Glu81Val)
| |
17 | g.63972600T>C | CA400640180 | SCN4A | c.242A>G (p.Glu81Gly)
| |
17 | g.63972600T>G | CA400640181 | SCN4A | c.242A>C (p.Glu81Ala)
| |
17 | g.63972601C>A | CA400640182 | SCN4A | c.241G>T (p.Glu81Ter)
| dbSNP |
17 | g.63972601C= | CA2270175929 | SCN4A | c.241G= (p.Glu81=)
| |
17 | g.63972601C>G | CA8710244 | SCN4A | c.241G>C (p.Glu81Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972601C>T | CA400640183 | SCN4A | c.241G>A (p.Glu81Lys)
| COSMIC |
17 | g.63972602C>A | CA501349006 | SCN4A | c.240G>T (p.Leu80=)
| |
17 | g.63972602C= | CA2270175930 | SCN4A | c.240G= (p.Leu80=)
| |
17 | g.63972602C>G | CA501349007 | SCN4A | c.240G>C (p.Leu80=)
| |
17 | g.63972602C>T | CA8710245 | SCN4A | c.240G>A (p.Leu80=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972603A>C | CA400640186 | SCN4A | c.239T>G (p.Leu80Arg)
| |
17 | g.63972603A>G | CA400640184 | SCN4A | c.239T>C (p.Leu80Pro)
| |
17 | g.63972603A>T | CA400640185 | SCN4A | c.239T>A (p.Leu80Gln)
| gnomAD v4 |
17 | g.63972604G>A | CA8710246 | SCN4A | c.238C>T (p.Leu80=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972604G>C | CA400640187 | SCN4A | c.238C>G (p.Leu80Val)
| |
17 | g.63972604G= | CA2270175931 | SCN4A | c.238C= (p.Leu80=)
| |
17 | g.63972604G>T | CA400640188 | SCN4A | c.238C>A (p.Leu80Met)
| gnomAD v4 |
17 | g.63972608dup | CA2810128112 | SCN4A | c.238dup (p.Leu80ProfsTer11)
| |
17 | g.63972605G>A | CA8710247 | SCN4A | c.237C>T (p.Pro79=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972605G>C | CA501349009 | SCN4A | c.237C>G (p.Pro79=)
| |
17 | g.63972605G= | CA2270175932 | SCN4A | c.237C= (p.Pro79=)
| |
17 | g.63972605G>T | CA501349008 | SCN4A | c.237C>A (p.Pro79=)
| |
17 | g.63972606G>A | CA400640189 | SCN4A | c.236C>T (p.Pro79Leu)
| dbSNP gnomAD v2 |
17 | g.63972606G>C | CA400640190 | SCN4A | c.236C>G (p.Pro79Arg)
| |
17 | g.63972606G= | CA2270175933 | SCN4A | c.236C= (p.Pro79=)
| |
17 | g.63972606G>T | CA400640191 | SCN4A | c.236C>A (p.Pro79His)
| |
17 | g.63972607G>A | CA8710248 | SCN4A | c.235C>T (p.Pro79Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972607G>C | CA400640192 | SCN4A | c.235C>G (p.Pro79Ala)
| dbSNP gnomAD v4 |
17 | g.63972607G= | CA2270175934 | SCN4A | c.235C= (p.Pro79=)
| |
17 | g.63972607G>T | CA8710249 | SCN4A | c.235C>A (p.Pro79Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972608G>A | CA501349010 | SCN4A | c.234C>T (p.Ile78=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63972608G>C | CA400640193 | SCN4A | c.234C>G (p.Ile78Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972608G= | CA2270175935 | SCN4A | c.234C= (p.Ile78=)
| |
17 | g.63972608G>T | CA501349011 | SCN4A | c.234C>A (p.Ile78=)
| |
17 | g.63972609A>C | CA400640194 | SCN4A | c.233T>G (p.Ile78Ser)
| |
17 | g.63972609A>G | CA400640196 | SCN4A | c.233T>C (p.Ile78Thr)
| |
17 | g.63972609A>T | CA400640195 | SCN4A | c.233T>A (p.Ile78Asn)
| |
17 | g.63972610T>A | CA400640197 | SCN4A | c.232A>T (p.Ile78Phe)
| |
17 | g.63972610T>C | CA400640199 | SCN4A | c.232A>G (p.Ile78Val)
| |
17 | g.63972610T>G | CA400640198 | SCN4A | c.232A>C (p.Ile78Leu)
| |
17 | g.63972611G>A | CA292972885 | SCN4A | c.231C>T (p.Gly77=)
| dbSNP gnomAD v4 |
17 | g.63972611G>C | CA501349015 | SCN4A | c.231C>G (p.Gly77=)
| |
17 | g.63972611G= | CA2270175936 | SCN4A | c.231C= (p.Gly77=)
| |
17 | g.63972611G>T | CA501349016 | SCN4A | c.231C>A (p.Gly77=)
| |
17 | g.63972612C>A | CA400640200 | SCN4A | c.230G>T (p.Gly77Val)
| |
17 | g.63972612C>G | CA400640201 | SCN4A | c.230G>C (p.Gly77Ala)
| |
17 | g.63972612C>T | CA400640202 | SCN4A | c.230G>A (p.Gly77Asp)
| gnomAD v4 COSMIC |
17 | g.63972613C>A | CA400640203 | SCN4A | c.229G>T (p.Gly77Cys)
| gnomAD v4 |
17 | g.63972613C= | CA2270175937 | SCN4A | c.229G= (p.Gly77=)
| |
17 | g.63972613C>G | CA400640204 | SCN4A | c.229G>C (p.Gly77Arg)
| |
17 | g.63972613C>T | CA8710250 | SCN4A | c.229G>A (p.Gly77Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972614G>A | CA501349018 | SCN4A | c.228C>T (p.Ile76=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972614G>C | CA400640205 | SCN4A | c.228C>G (p.Ile76Met)
| |
17 | g.63972614G= | CA2270175938 | SCN4A | c.228C= (p.Ile76=)
| |
17 | g.63972614G>T | CA501349019 | SCN4A | c.228C>A (p.Ile76=)
| gnomAD v4 |
17 | g.63972615A>C | CA400640206 | SCN4A | c.227T>G (p.Ile76Ser)
| |
17 | g.63972615A>G | CA400640207 | SCN4A | c.227T>C (p.Ile76Thr)
| |
17 | g.63972615A>T | CA400640208 | SCN4A | c.227T>A (p.Ile76Asn)
| |
17 | g.63972616T>A | CA8710251 | SCN4A | c.226A>T (p.Ile76Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972616T>C | CA400640209 | SCN4A | c.226A>G (p.Ile76Val)
| dbSNP gnomAD v4 |
17 | g.63972616T>G | CA400640210 | SCN4A | c.226A>C (p.Ile76Leu)
| |
17 | g.63972616T= | CA2270175939 | SCN4A | c.226A= (p.Ile76=)
| |
17 | g.63972617G>A | CA501349023 | SCN4A | c.225C>T (p.Val75=)
| ClinVar gnomAD v4 |
17 | g.63972617G>C | CA501349024 | SCN4A | c.225C>G (p.Val75=)
| |
17 | g.63972617G>T | CA501349025 | SCN4A | c.225C>A (p.Val75=)
| |
17 | g.63972618A= | CA2270175940 | SCN4A | c.224T= (p.Val75=)
| |
17 | g.63972618A>C | CA400640213 | SCN4A | c.224T>G (p.Val75Gly)
| dbSNP |
17 | g.63972618A>G | CA400640211 | SCN4A | c.224T>C (p.Val75Ala)
| gnomAD v4 |
17 | g.63972618A>T | CA400640212 | SCN4A | c.224T>A (p.Val75Asp)
| |
17 | g.63972619C>A | CA400640214 | SCN4A | c.223G>T (p.Val75Phe)
| ClinVar dbSNP |
17 | g.63972619C= | CA2270175941 | SCN4A | c.223G= (p.Val75=)
| |
17 | g.63972619C>G | CA400640215 | SCN4A | c.223G>C (p.Val75Leu)
| |
17 | g.63972619C>T | CA400640216 | SCN4A | c.223G>A (p.Val75Ile)
| |
17 | g.63972620C>A | CA400640217 | SCN4A | c.222G>T (p.Glu74Asp)
| |
17 | g.63972620C= | CA2270175942 | SCN4A | c.222G= (p.Glu74=)
| |
17 | g.63972620C>G | CA400640218 | SCN4A | c.222G>C (p.Glu74Asp)
| |
17 | g.63972620C>T | CA501349029 | SCN4A | c.222G>A (p.Glu74=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972621T>A | CA400640219 | SCN4A | c.221A>T (p.Glu74Val)
| |
17 | g.63972621T>C | CA400640220 | SCN4A | c.221A>G (p.Glu74Gly)
| |
17 | g.63972621T>G | CA400640221 | SCN4A | c.221A>C (p.Glu74Ala)
| |
17 | g.63972622C>A | CA400640222 | SCN4A | c.220G>T (p.Glu74Ter)
| dbSNP |
17 | g.63972622C= | CA2270175943 | SCN4A | c.220G= (p.Glu74=)
| |
17 | g.63972622C>G | CA400640223 | SCN4A | c.220G>C (p.Glu74Gln)
| dbSNP |
17 | g.63972622C>T | CA400640224 | SCN4A | c.220G>A (p.Glu74Lys)
| |
17 | g.63972623C>A | CA501349033 | SCN4A | c.219G>T (p.Pro73=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63972623C= | CA2270175944 | SCN4A | c.219G= (p.Pro73=)
| |
17 | g.63972623C>G | CA501349034 | SCN4A | c.219G>C (p.Pro73=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972623C>T | CA8710252 | SCN4A | c.219G>A (p.Pro73=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972624G>A | CA8710253 | SCN4A | c.218C>T (p.Pro73Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972624G>C | CA400640226 | SCN4A | c.218C>G (p.Pro73Arg)
| |
17 | g.63972624G= | CA2270175945 | SCN4A | c.218C= (p.Pro73=)
| |
17 | g.63972624G>T | CA400640225 | SCN4A | c.218C>A (p.Pro73Gln)
| |