Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.63944709G>A | CA501217836 | SCN4A | c.3876C>T (p.Gly1292=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63944709G>C | CA501217837 | SCN4A | c.3876C>G (p.Gly1292=) | |
17 | g.63944709G= | CA2270162660 | SCN4A | c.3876C= (p.Gly1292=) | |
17 | g.63944709G>T | CA501217838 | SCN4A | c.3876C>A (p.Gly1292=) | |
17 | g.63944710C>A | CA400617291 | SCN4A | c.3875G>T (p.Gly1292Val) | |
17 | g.63944710C>G | CA400617292 | SCN4A | c.3875G>C (p.Gly1292Ala) | |
17 | g.63944710C>T | CA400617293 | SCN4A | c.3875G>A (p.Gly1292Asp) | |
17 | g.63944711del | CA2810127427 | SCN4A | c.3875del (p.Gly1292AlafsTer14) | |
17 | g.63944711C>A | CA400617296 | SCN4A | c.3874G>T (p.Gly1292Cys) | |
17 | g.63944711C= | CA2270162662 | SCN4A | c.3874G= (p.Gly1292=) | |
17 | g.63944711C>G | CA400617295 | SCN4A | c.3874G>C (p.Gly1292Arg) | |
17 | g.63944711C>T | CA400617294 | SCN4A | c.3874G>A (p.Gly1292Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63944712A>C | CA400617297 | SCN4A | c.3873T>G (p.Ile1291Met) | |
17 | g.63944712A>G | CA501217853 | SCN4A | c.3873T>C (p.Ile1291=) | |
17 | g.63944712A>T | CA501217851 | SCN4A | c.3873T>A (p.Ile1291=) | |
17 | g.63944713del | CA2639309938 | SCN4A | c.3873del (p.Ile1291MetfsTer15) | gnomAD v4 |
17 | g.63944713A= | CA2270162664 | SCN4A | c.3872T= (p.Ile1291=) | |
17 | g.63944713A>C | CA400617298 | SCN4A | c.3872T>G (p.Ile1291Ser) | |
17 | g.63944713A>G | CA8709121 | SCN4A | c.3872T>C (p.Ile1291Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63944713A>T | CA400617299 | SCN4A | c.3872T>A (p.Ile1291Asn) | |
17 | g.63944714T>A | CA400617300 | SCN4A | c.3871A>T (p.Ile1291Phe) | |
17 | g.63944714T>C | CA8709122 | SCN4A | c.3871A>G (p.Ile1291Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63944714T>G | CA400617301 | SCN4A | c.3871A>C (p.Ile1291Leu) | |
17 | g.63944714T= | CA2270162666 | SCN4A | c.3871A= (p.Ile1291=) | |
17 | g.63944715G>A | CA501217863 | SCN4A | c.3870C>T (p.Phe1290=) | ClinVar gnomAD v4 COSMIC |
17 | g.63944715G>C | CA400617302 | SCN4A | c.3870C>G (p.Phe1290Leu) | |
17 | g.63944715G>T | CA400617303 | SCN4A | c.3870C>A (p.Phe1290Leu) | |
17 | g.63944716A>C | CA400617304 | SCN4A | c.3869T>G (p.Phe1290Cys) | |
17 | g.63944716A>G | CA400617305 | SCN4A | c.3869T>C (p.Phe1290Ser) | |
17 | g.63944716A>T | CA400617306 | SCN4A | c.3869T>A (p.Phe1290Tyr) | |
17 | g.63944717A>C | CA400617309 | SCN4A | c.3868T>G (p.Phe1290Val) | |
17 | g.63944717A>G | CA400617308 | SCN4A | c.3868T>C (p.Phe1290Leu) | ClinVar |
17 | g.63944717A>T | CA400617307 | SCN4A | c.3868T>A (p.Phe1290Ile) | |
17 | g.63944718G>A | CA501217877 | SCN4A | c.3867C>T (p.Leu1289=) | COSMIC |
17 | g.63944718G>C | CA501217879 | SCN4A | c.3867C>G (p.Leu1289=) | |
17 | g.63944718G>T | CA501217882 | SCN4A | c.3867C>A (p.Leu1289=) | |
17 | g.63944718_63944719delinsGA | CA2270162669 | SCN4A | c.3866_3867delinsTC (p.Leu1289=) | |
17 | g.63944719del | CA292959362 | SCN4A | c.3866del (p.Leu1289ProfsTer17) | dbSNP |
17 | g.63944719A>C | CA400617310 | SCN4A | c.3866T>G (p.Leu1289Arg) | |
17 | g.63944719A>G | CA400617311 | SCN4A | c.3866T>C (p.Leu1289Pro) | |
17 | g.63944719A>T | CA400617312 | SCN4A | c.3866T>A (p.Leu1289His) | |
17 | g.63944720G>A | CA400617313 | SCN4A | c.3865C>T (p.Leu1289Phe) | dbSNP gnomAD v4 |
17 | g.63944720G>C | CA400617314 | SCN4A | c.3865C>G (p.Leu1289Val) | |
17 | g.63944720G= | CA2270162671 | SCN4A | c.3865C= (p.Leu1289=) | |
17 | g.63944720G>T | CA400617315 | SCN4A | c.3865C>A (p.Leu1289Ile) | |
17 | g.63944721G>A | CA501217897 | SCN4A | c.3864C>T (p.Asn1288=) | |
17 | g.63944721G>C | CA400617316 | SCN4A | c.3864C>G (p.Asn1288Lys) | |
17 | g.63944721G>T | CA400617317 | SCN4A | c.3864C>A (p.Asn1288Lys) | |
17 | g.63944722T>A | CA400617318 | SCN4A | c.3863A>T (p.Asn1288Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63944722T>C | CA8709123 | SCN4A | c.3863A>G (p.Asn1288Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63944722T>G | CA400617319 | SCN4A | c.3863A>C (p.Asn1288Thr) | gnomAD v4 |
17 | g.63944722T= | CA2270162673 | SCN4A | c.3863A= (p.Asn1288=) | |
17 | g.63944723T>A | CA400617320 | SCN4A | c.3862A>T (p.Asn1288Tyr) | |
17 | g.63944723T>C | CA400617322 | SCN4A | c.3862A>G (p.Asn1288Asp) | |
17 | g.63944723T>G | CA400617321 | SCN4A | c.3862A>C (p.Asn1288His) | |
17 | g.63944724G>A | CA501217909 | SCN4A | c.3861C>T (p.Leu1287=) | |
17 | g.63944724G>C | CA501217910 | SCN4A | c.3861C>G (p.Leu1287=) | |
17 | g.63944724G>T | CA501217912 | SCN4A | c.3861C>A (p.Leu1287=) | |
17 | g.63944725A>C | CA400617323 | SCN4A | c.3860T>G (p.Leu1287Arg) | |
17 | g.63944725A>G | CA400617325 | SCN4A | c.3860T>C (p.Leu1287Pro) | |
17 | g.63944725A>T | CA400617324 | SCN4A | c.3860T>A (p.Leu1287His) | |
17 | g.63944726G>A | CA8709124 | SCN4A | c.3859C>T (p.Leu1287Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63944726G>C | CA400617327 | SCN4A | c.3859C>G (p.Leu1287Val) | |
17 | g.63944726G= | CA2270162675 | SCN4A | c.3859C= (p.Leu1287=) | |
17 | g.63944726G>T | CA400617326 | SCN4A | c.3859C>A (p.Leu1287Ile) | |
17 | g.63944728dup | CA2841434493 | SCN4A | c.3859dup (p.Leu1287ProfsTer10) | |
17 | g.63944727G>A | CA8709125 | SCN4A | c.3858C>T (p.Thr1286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63944727G>C | CA501217927 | SCN4A | c.3858C>G (p.Thr1286=) | |
17 | g.63944727G= | CA2270162677 | SCN4A | c.3858C= (p.Thr1286=) | |
17 | g.63944727G>T | CA501217925 | SCN4A | c.3858C>A (p.Thr1286=) | |
17 | g.63944728G>A | CA400617330 | SCN4A | c.3857C>T (p.Thr1286Ile) | |
17 | g.63944728G>C | CA400617328 | SCN4A | c.3857C>G (p.Thr1286Ser) | |
17 | g.63944728G>T | CA400617329 | SCN4A | c.3857C>A (p.Thr1286Asn) | |
17 | g.63944729T>A | CA400617331 | SCN4A | c.3856A>T (p.Thr1286Ser) | |
17 | g.63944729T>C | CA400617332 | SCN4A | c.3856A>G (p.Thr1286Ala) | |
17 | g.63944729T>G | CA400617333 | SCN4A | c.3856A>C (p.Thr1286Pro) | |
17 | g.63944730G>A | CA501217934 | SCN4A | c.3855C>T (p.Phe1285=) | |
17 | g.63944730G>C | CA400617334 | SCN4A | c.3855C>G (p.Phe1285Leu) | |
17 | g.63944730G>T | CA400617335 | SCN4A | c.3855C>A (p.Phe1285Leu) | |
17 | g.63944731A>C | CA400617336 | SCN4A | c.3854T>G (p.Phe1285Cys) | |
17 | g.63944731A>G | CA400617337 | SCN4A | c.3854T>C (p.Phe1285Ser) | |
17 | g.63944731A>T | CA400617338 | SCN4A | c.3854T>A (p.Phe1285Tyr) | |
17 | g.63944732A= | CA2270162679 | SCN4A | c.3853T= (p.Phe1285=) | |
17 | g.63944732A>C | CA400617339 | SCN4A | c.3853T>G (p.Phe1285Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63944732A>G | CA292959388 | SCN4A | c.3853T>C (p.Phe1285Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63944732A>T | CA400617340 | SCN4A | c.3853T>A (p.Phe1285Ile) | |
17 | g.63944733G>A | CA501217946 | SCN4A | c.3852C>T (p.Phe1284=) | |
17 | g.63944733G>C | CA400617341 | SCN4A | c.3852C>G (p.Phe1284Leu) | |
17 | g.63944733G>T | CA400617342 | SCN4A | c.3852C>A (p.Phe1284Leu) | |
17 | g.63944734A= | CA2270162682 | SCN4A | c.3851T= (p.Phe1284=) | |
17 | g.63944734A>C | CA400617343 | SCN4A | c.3851T>G (p.Phe1284Cys) | |
17 | g.63944734A>G | CA400617344 | SCN4A | c.3851T>C (p.Phe1284Ser) | |
17 | g.63944734A>T | CA8709126 | SCN4A | c.3851T>A (p.Phe1284Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63944735A>C | CA400617345 | SCN4A | c.3850T>G (p.Phe1284Val) | |
17 | g.63944735A>G | CA400617346 | SCN4A | c.3850T>C (p.Phe1284Leu) | |
17 | g.63944735A>T | CA400617347 | SCN4A | c.3850T>A (p.Phe1284Ile) | |
17 | g.63944736G>A | CA8709127 | SCN4A | c.3849C>T (p.Ser1283=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63944736G>C | CA501217961 | SCN4A | c.3849C>G (p.Ser1283=) | |
17 | g.63944736G= | CA2270162684 | SCN4A | c.3849C= (p.Ser1283=) | |
17 | g.63944736G>T | CA501217963 | SCN4A | c.3849C>A (p.Ser1283=) | |
17 | g.63944737G>A | CA400617348 | SCN4A | c.3848C>T (p.Ser1283Phe) | |
17 | g.63944737G>C | CA400617349 | SCN4A | c.3848C>G (p.Ser1283Cys) | |
17 | g.63944737G>T | CA400617350 | SCN4A | c.3848C>A (p.Ser1283Tyr) | |
17 | g.63944738A>C | CA400617353 | SCN4A | c.3847T>G (p.Ser1283Ala) | |
17 | g.63944738A>G | CA400617352 | SCN4A | c.3847T>C (p.Ser1283Pro) | |
17 | g.63944738A>T | CA400617351 | SCN4A | c.3847T>A (p.Ser1283Thr) | |
17 | g.63944739G>A | CA501217975 | SCN4A | c.3846C>T (p.Gly1282=) | gnomAD v4 |
17 | g.63944739G>C | CA501217976 | SCN4A | c.3846C>G (p.Gly1282=) | |
17 | g.63944739G>T | CA501217977 | SCN4A | c.3846C>A (p.Gly1282=) | |
17 | g.63944740C>A | CA400617354 | SCN4A | c.3845G>T (p.Gly1282Val) | gnomAD v4 |
17 | g.63944740C>G | CA400617355 | SCN4A | c.3845G>C (p.Gly1282Ala) | |
17 | g.63944740C>T | CA400617356 | SCN4A | c.3845G>A (p.Gly1282Asp) | COSMIC |
17 | g.63944741C>A | CA400617357 | SCN4A | c.3844G>T (p.Gly1282Cys) | |
17 | g.63944741C>G | CA400617358 | SCN4A | c.3844G>C (p.Gly1282Arg) | gnomAD v4 |
17 | g.63944741C>T | CA400617359 | SCN4A | c.3844G>A (p.Gly1282Ser) | |
17 | g.63944742A>C | CA400617360 | SCN4A | c.3843T>G (p.Phe1281Leu) | gnomAD v4 |
17 | g.63944742A>G | CA501217978 | SCN4A | c.3843T>C (p.Phe1281=) | gnomAD v4 |
17 | g.63944742A>T | CA400617361 | SCN4A | c.3843T>A (p.Phe1281Leu) | |
17 | g.63944743A>C | CA400617362 | SCN4A | c.3842T>G (p.Phe1281Cys) | |
17 | g.63944743A>G | CA400617363 | SCN4A | c.3842T>C (p.Phe1281Ser) | |
17 | g.63944743A>T | CA400617364 | SCN4A | c.3842T>A (p.Phe1281Tyr) | |
17 | g.63944744A>C | CA400617367 | SCN4A | c.3841T>G (p.Phe1281Val) | COSMIC |
17 | g.63944744A>G | CA400617366 | SCN4A | c.3841T>C (p.Phe1281Leu) | |
17 | g.63944744A>T | CA400617365 | SCN4A | c.3841T>A (p.Phe1281Ile) | |
17 | g.63944745G>A | CA501217979 | SCN4A | c.3840C>T (p.Ile1280=) | dbSNP |
17 | g.63944745G>C | CA400617368 | SCN4A | c.3840C>G (p.Ile1280Met) | |
17 | g.63944745G= | CA2270162686 | SCN4A | c.3840C= (p.Ile1280=) | |
17 | g.63944745G>T | CA501217980 | SCN4A | c.3840C>A (p.Ile1280=) | |
17 | g.63944746A>C | CA400617369 | SCN4A | c.3839T>G (p.Ile1280Ser) | |
17 | g.63944746A>G | CA400617370 | SCN4A | c.3839T>C (p.Ile1280Thr) | |
17 | g.63944746A>T | CA400617371 | SCN4A | c.3839T>A (p.Ile1280Asn) | |
17 | g.63944747T>A | CA400617372 | SCN4A | c.3838A>T (p.Ile1280Phe) | |
17 | g.63944747T>C | CA400617373 | SCN4A | c.3838A>G (p.Ile1280Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63944747T>G | CA8709128 | SCN4A | c.3838A>C (p.Ile1280Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63944747T= | CA2270162688 | SCN4A | c.3838A= (p.Ile1280=) | |
17 | g.63944748G>A | CA8709129 | SCN4A | c.3837C>T (p.Ile1279=) | dbSNP ExAC gnomAD v4 COSMIC |
17 | g.63944748G>C | CA400617374 | SCN4A | c.3837C>G (p.Ile1279Met) | |
17 | g.63944748G= | CA2270162690 | SCN4A | c.3837C= (p.Ile1279=) | |
17 | g.63944748G>T | CA501217981 | SCN4A | c.3837C>A (p.Ile1279=) | |
17 | g.63944749A>C | CA400617375 | SCN4A | c.3836T>G (p.Ile1279Ser) | |
17 | g.63944749A>G | CA400617376 | SCN4A | c.3836T>C (p.Ile1279Thr) | |
17 | g.63944749A>T | CA400617377 | SCN4A | c.3836T>A (p.Ile1279Asn) | |
17 | g.63944750T>A | CA400617379 | SCN4A | c.3835A>T (p.Ile1279Phe) | |
17 | g.63944750T>C | CA8709130 | SCN4A | c.3835A>G (p.Ile1279Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63944750T>G | CA400617378 | SCN4A | c.3835A>C (p.Ile1279Leu) | |
17 | g.63944750T= | CA2270162692 | SCN4A | c.3835A= (p.Ile1279=) | |
17 | g.63944751G>A | CA292959406 | SCN4A | c.3834C>T (p.Phe1278=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63944751G>C | CA400617381 | SCN4A | c.3834C>G (p.Phe1278Leu) | |
17 | g.63944751G= | CA2270162694 | SCN4A | c.3834C= (p.Phe1278=) | |
17 | g.63944751G>T | CA400617380 | SCN4A | c.3834C>A (p.Phe1278Leu) | |
17 | g.63944752A>C | CA400617382 | SCN4A | c.3833T>G (p.Phe1278Cys) | |
17 | g.63944752A>G | CA400617383 | SCN4A | c.3833T>C (p.Phe1278Ser) | gnomAD v4 |
17 | g.63944752A>T | CA400617384 | SCN4A | c.3833T>A (p.Phe1278Tyr) | |
17 | g.63944753dup | CA2841434494 | SCN4A | c.3833dup (p.Ile1279HisfsTer18) | |
17 | g.63944753A>C | CA400617385 | SCN4A | c.3832T>G (p.Phe1278Val) | |
17 | g.63944753A>G | CA400617386 | SCN4A | c.3832T>C (p.Phe1278Leu) | |
17 | g.63944753A>T | CA400617387 | SCN4A | c.3832T>A (p.Phe1278Ile) | |
17 | g.63944754G>A | CA501218000 | SCN4A | c.3831C>T (p.Ile1277=) | ClinVar gnomAD v4 |
17 | g.63944754G>C | CA400617388 | SCN4A | c.3831C>G (p.Ile1277Met) | |
17 | g.63944754G>T | CA501218003 | SCN4A | c.3831C>A (p.Ile1277=) | ClinVar |
17 | g.63944755A>C | CA400617389 | SCN4A | c.3830T>G (p.Ile1277Ser) | |
17 | g.63944755A>G | CA400617390 | SCN4A | c.3830T>C (p.Ile1277Thr) | |
17 | g.63944755A>T | CA400617391 | SCN4A | c.3830T>A (p.Ile1277Asn) | |
17 | g.63944756T>A | CA8709131 | SCN4A | c.3829A>T (p.Ile1277Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63944756T>C | CA8709132 | SCN4A | c.3829A>G (p.Ile1277Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63944756T>G | CA400617392 | SCN4A | c.3829A>C (p.Ile1277Leu) | |
17 | g.63944756T= | CA2270162696 | SCN4A | c.3829A= (p.Ile1277=) | |
17 | g.63944757G>A | CA501218009 | SCN4A | c.3828C>T (p.Val1276=) | |
17 | g.63944757G>C | CA501218011 | SCN4A | c.3828C>G (p.Val1276=) | |
17 | g.63944757G>T | CA501218013 | SCN4A | c.3828C>A (p.Val1276=) | |
17 | g.63944758A>C | CA400617393 | SCN4A | c.3827T>G (p.Val1276Gly) | |
17 | g.63944758A>G | CA400617394 | SCN4A | c.3827T>C (p.Val1276Ala) | gnomAD v4 |
17 | g.63944758A>T | CA400617395 | SCN4A | c.3827T>A (p.Val1276Asp) | |
17 | g.63944759C>A | CA400617396 | SCN4A | c.3826G>T (p.Val1276Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63944759C= | CA2270162699 | SCN4A | c.3826G= (p.Val1276=) | |
17 | g.63944759C>G | CA400617397 | SCN4A | c.3826G>C (p.Val1276Leu) | COSMIC |
17 | g.63944759C>T | CA400617398 | SCN4A | c.3826G>A (p.Val1276Ile) | |
17 | g.63944760A>C | CA400617399 | SCN4A | c.3825T>G (p.Phe1275Leu) | |
17 | g.63944760A>G | CA501218028 | SCN4A | c.3825T>C (p.Phe1275=) | |
17 | g.63944760A>T | CA400617400 | SCN4A | c.3825T>A (p.Phe1275Leu) |