Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169555147_169555153delinsACCTTTG | CA1206149174 | F5 | c.1118+29_1118+35delinsCAAAGGT (n.1118+29_1118+35delinsCAAAGGT) c.707+29_707+35delinsCAAAGGT (n.707+29_707+35delinsCAAAGGT) | |
1 | g.169555150_169555155del | CA1234430 | F5 | c.1118+29_1118+34del (n.1118+29_1118+34del) c.707+29_707+34del (n.707+29_707+34del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555149_169555152dup | CA2649036283 | F5 | c.1118+30_1118+33dup (n.1118+30_1118+33dup) c.707+30_707+33dup (n.707+30_707+33dup) | gnomAD v4 |
1 | g.169555152T>C | CA2746577985 | F5 | c.1118+30A>G (n.1118+30A>G) c.707+30A>G (n.707+30A>G) | |
1 | g.169555153G>C | CA527131341 | F5 | c.1118+29C>G (n.1118+29C>G) c.707+29C>G (n.707+29C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169555153G= | CA1206149175 | F5 | c.1118+29C= (n.1118+29C=) c.707+29C= (n.707+29C=) | |
1 | g.169555153G>T | CA2649036285 | F5 | c.1118+29C>A (n.1118+29C>A) c.707+29C>A (n.707+29C>A) | gnomAD v4 |
1 | g.169555156del | CA2649036286 | F5 | c.1118+28del (n.1118+28del) c.707+28del (n.707+28del) | gnomAD v4 |
1 | g.169555155C>A | CA1234431 | F5 | c.1118+27G>T (n.1118+27G>T) c.707+27G>T (n.707+27G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555155C= | CA1206149176 | F5 | c.1118+27G= (n.1118+27G=) c.707+27G= (n.707+27G=) | |
1 | g.169555155C>G | CA2573946102 | F5 | c.1118+27G>C (n.1118+27G>C) c.707+27G>C (n.707+27G>C) | |
1 | g.169555155C>T | CA32390534 | F5 | c.1118+27G>A (n.1118+27G>A) c.707+27G>A (n.707+27G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555156C= | CA1146508896 | F5 | c.1118+26G= (n.1118+26G=) c.707+26G= (n.707+26G=) | |
1 | g.169555156C>T | CA1234432 | F5 | c.1118+26G>A (n.1118+26G>A) c.707+26G>A (n.707+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555158G>A | CA2697243702 | F5 | c.1118+24C>T (n.1118+24C>T) c.707+24C>T (n.707+24C>T) | dbSNP |
1 | g.169555158G>C | CA1234433 | F5 | c.1118+24C>G (n.1118+24C>G) c.707+24C>G (n.707+24C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555158G= | CA1206149181 | F5 | c.1118+24C= (n.1118+24C=) c.707+24C= (n.707+24C=) | |
1 | g.169555159T>A | CA1008979432 | F5 | c.1118+23A>T (n.1118+23A>T) c.707+23A>T (n.707+23A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555159T>C | CA2649036287 | F5 | c.1118+23A>G (n.1118+23A>G) c.707+23A>G (n.707+23A>G) | gnomAD v4 |
1 | g.169555159T= | CA1206149182 | F5 | c.1118+23A= (n.1118+23A=) c.707+23A= (n.707+23A=) | |
1 | g.169555161G= | CA1141139502 | F5 | c.1118+21C= (n.1118+21C=) c.707+21C= (n.707+21C=) | |
1 | g.169555161G>T | CA32390550 | F5 | c.1118+21C>A (n.1118+21C>A) c.707+21C>A (n.707+21C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555162T>G | CA2649036288 | F5 | c.1118+20A>C (n.1118+20A>C) c.707+20A>C (n.707+20A>C) | gnomAD v4 |
1 | g.169555164T>C | CA527131342 | F5 | c.1118+18A>G (n.1118+18A>G) c.707+18A>G (n.707+18A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555164T= | CA1206149185 | F5 | c.1118+18A= (n.1118+18A=) c.707+18A= (n.707+18A=) | |
1 | g.169555166A>T | CA645972251 | F5 | c.1118+16T>A (n.1118+16T>A) c.707+16T>A (n.707+16T>A) | COSMIC |
1 | g.169555167A>C | CA2649036289 | F5 | c.1118+15T>G (n.1118+15T>G) c.707+15T>G (n.707+15T>G) | gnomAD v4 |
1 | g.169555167_169555168delinsAC | CA1206149187 | F5 | c.1118+14_1118+15delinsGT (n.1118+14_1118+15delinsGT) c.707+14_707+15delinsGT (n.707+14_707+15delinsGT) | |
1 | g.169555168C>A | CA1234434 | F5 | c.1118+14G>T (n.1118+14G>T) c.707+14G>T (n.707+14G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169555168C= | CA1206149190 | F5 | c.1118+14G= (n.1118+14G=) c.707+14G= (n.707+14G=) | |
1 | g.169555168C>T | CA527131343 | F5 | c.1118+14G>A (n.1118+14G>A) c.707+14G>A (n.707+14G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555171del | CA527131344 | F5 | c.1118+14del (n.1118+14del) c.707+14del (n.707+14del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555169C= | CA1206149192 | F5 | c.1118+13G= (n.1118+13G=) c.707+13G= (n.707+13G=) | |
1 | g.169555169C>T | CA527131345 | F5 | c.1118+13G>A (n.1118+13G>A) c.707+13G>A (n.707+13G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.169555170C= | CA1143642251 | F5 | c.1118+12G= (n.1118+12G=) c.707+12G= (n.707+12G=) | |
1 | g.169555170C>G | CA1234435 | F5 | c.1118+12G>C (n.1118+12G>C) c.707+12G>C (n.707+12G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555171C= | CA1206149195 | F5 | c.1118+11G= (n.1118+11G=) c.707+11G= (n.707+11G=) | |
1 | g.169555171C>G | CA527131346 | F5 | c.1118+11G>C (n.1118+11G>C) c.707+11G>C (n.707+11G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555171C>T | CA1234436 | F5 | c.1118+11G>A (n.1118+11G>A) c.707+11G>A (n.707+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169555172A>G | CA2697393793 | F5 | c.1118+10T>C (n.1118+10T>C) c.707+10T>C (n.707+10T>C) | dbSNP |
1 | g.169555173A= | CA1206149197 | F5 | c.1118+9T= (n.1118+9T=) c.707+9T= (n.707+9T=) | |
1 | g.169555173A>C | CA1234437 | F5 | c.1118+9T>G (n.1118+9T>G) c.707+9T>G (n.707+9T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169555174C>A | CA2557853871 | F5 | c.1118+8G>T (n.1118+8G>T) c.707+8G>T (n.707+8G>T) | gnomAD v4 |
1 | g.169555174C>T | CA2697393965 | F5 | c.1118+8G>A (n.1118+8G>A) c.707+8G>A (n.707+8G>A) | dbSNP |
1 | g.169555175A>G | CA2649036290 | F5 | c.1118+7T>C (n.1118+7T>C) c.707+7T>C (n.707+7T>C) | gnomAD v4 |
1 | g.169555176A= | CA1206149199 | F5 | c.1118+6T= (n.1118+6T=) c.707+6T= (n.707+6T=) | |
1 | g.169555176A>T | CA1008979446 | F5 | c.1118+6T>A (n.1118+6T>A) c.707+6T>A (n.707+6T>A) | dbSNP |
1 | g.169555177C>A | CA2586964374 | F5 | c.1118+5G>T (n.1118+5G>T) c.707+5G>T (n.707+5G>T) | gnomAD v4 |
1 | g.169555177C>T | CA2746577986 | F5 | c.1118+5G>A (n.1118+5G>A) c.707+5G>A (n.707+5G>A) | |
1 | g.169555178T>A | CA2649036291 | F5 | c.1118+4A>T (n.1118+4A>T) c.707+4A>T (n.707+4A>T) | gnomAD v4 |
1 | g.169555179C>A | CA2564496457 | F5 | c.1118+3G>T (n.1118+3G>T) c.707+3G>T (n.707+3G>T) | |
1 | g.169555179C>T | CA2649036292 | F5 | c.1118+3G>A (n.1118+3G>A) c.707+3G>A (n.707+3G>A) | gnomAD v4 |
1 | g.169555180A>C | CA343130661 | F5 | c.1118+2T>G (n.1118+2T>G) c.707+2T>G (n.707+2T>G) | gnomAD v4 |
1 | g.169555180A>G | CA343130663 | F5 | c.1118+2T>C (n.1118+2T>C) c.707+2T>C (n.707+2T>C) | |
1 | g.169555180A>T | CA343130664 | F5 | c.1118+2T>A (n.1118+2T>A) c.707+2T>A (n.707+2T>A) | |
1 | g.169555181C>A | CA343130665 | F5 | c.1118+1G>T (n.1118+1G>T) c.707+1G>T (n.707+1G>T) | |
1 | g.169555181C>G | CA343130668 | F5 | c.1118+1G>C (n.1118+1G>C) c.707+1G>C (n.707+1G>C) | gnomAD v4 |
1 | g.169555181C>T | CA343130674 | F5 | c.1118+1G>A (n.1118+1G>A) c.707+1G>A (n.707+1G>A) | |
1 | g.169555182T>A | CA343130685 | F5 | c.1118A>T (p.Lys373Ile) c.707A>T (p.Lys236Ile) | |
1 | g.169555182T>C | CA343130707 | F5 | c.1118A>G (p.Lys373Arg) c.707A>G (p.Lys236Arg) | dbSNP |
1 | g.169555182T>G | CA343130689 | F5 | c.1118A>C (p.Lys373Thr) c.707A>C (p.Lys236Thr) | |
1 | g.169555182T= | CA1206149200 | F5 | c.1118A= (p.Lys373=) c.707A= (p.Lys236=) | |
1 | g.169555183del | CA2649036294 | F5 | c.1118del (p.Lys374AsnfsTer?) c.707del (p.Lys237AsnfsTer?) | gnomAD v4 |
1 | g.169555183T>A | CA343130711 | F5 | c.1117A>T (p.Lys373Ter) c.706A>T (p.Lys236Ter) | |
1 | g.169555183T>C | CA343130713 | F5 | c.1117A>G (p.Lys373Glu) c.706A>G (p.Lys236Glu) | |
1 | g.169555183T>G | CA343130718 | F5 | c.1117A>C (p.Lys373Gln) c.706A>C (p.Lys236Gln) | |
1 | g.169555184G>A | CA421733492 | F5 | c.1116C>T (p.Asp372=) c.705C>T (p.Asp235=) | |
1 | g.169555184G>C | CA343130719 | F5 | c.1116C>G (p.Asp372Glu) c.705C>G (p.Asp235Glu) | |
1 | g.169555184G>T | CA343130720 | F5 | c.1116C>A (p.Asp372Glu) c.705C>A (p.Asp235Glu) | gnomAD v4 |
1 | g.169555185T>A | CA32390558 | F5 | c.1115A>T (p.Asp372Val) c.704A>T (p.Asp235Val) | dbSNP |
1 | g.169555185T>C | CA343130733 | F5 | c.1115A>G (p.Asp372Gly) c.704A>G (p.Asp235Gly) | COSMIC |
1 | g.169555185T>G | CA343130738 | F5 | c.1115A>C (p.Asp372Ala) c.704A>C (p.Asp235Ala) | |
1 | g.169555185T= | CA1143758679 | F5 | c.1115A= (p.Asp372=) c.704A= (p.Asp235=) | |
1 | g.169555186C>A | CA343130740 | F5 | c.1114G>T (p.Asp372Tyr) c.703G>T (p.Asp235Tyr) | |
1 | g.169555186C>G | CA343130741 | F5 | c.1114G>C (p.Asp372His) c.703G>C (p.Asp235His) | |
1 | g.169555186C>T | CA343130742 | F5 | c.1114G>A (p.Asp372Asn) c.703G>A (p.Asp235Asn) | |
1 | g.169555187C>A | CA343130744 | F5 | c.1113G>T (p.Met371Ile) c.702G>T (p.Met234Ile) | |
1 | g.169555187C>G | CA343130745 | F5 | c.1113G>C (p.Met371Ile) c.702G>C (p.Met234Ile) | |
1 | g.169555187C>T | CA343130743 | F5 | c.1113G>A (p.Met371Ile) c.702G>A (p.Met234Ile) | gnomAD v4 |
1 | g.169555188A= | CA1143486382 | F5 | c.1112T= (p.Met371=) c.701T= (p.Met234=) | |
1 | g.169555188A>C | CA343130776 | F5 | c.1112T>G (p.Met371Arg) c.701T>G (p.Met234Arg) | |
1 | g.169555188A>G | CA32390559 | F5 | c.1112T>C (p.Met371Thr) c.701T>C (p.Met234Thr) | dbSNP |
1 | g.169555188A>T | CA343130749 | F5 | c.1112T>A (p.Met371Lys) c.701T>A (p.Met234Lys) | |
1 | g.169555189T>A | CA343130788 | F5 | c.1111A>T (p.Met371Leu) c.700A>T (p.Met234Leu) | |
1 | g.169555189T>C | CA343130791 | F5 | c.1111A>G (p.Met371Val) c.700A>G (p.Met234Val) | |
1 | g.169555189T>G | CA343130823 | F5 | c.1111A>C (p.Met371Leu) c.700A>C (p.Met234Leu) | |
1 | g.169555190A= | CA1206149205 | F5 | c.1110T= (p.Asn370=) c.699T= (p.Asn233=) | |
1 | g.169555190A>C | CA343130824 | F5 | c.1110T>G (p.Asn370Lys) c.699T>G (p.Asn233Lys) | |
1 | g.169555190A>G | CA1234438 | F5 | c.1110T>C (p.Asn370=) c.699T>C (p.Asn233=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169555190A>T | CA343130829 | F5 | c.1110T>A (p.Asn370Lys) c.699T>A (p.Asn233Lys) | |
1 | g.169555191T>A | CA343130836 | F5 | c.1109A>T (p.Asn370Ile) c.698A>T (p.Asn233Ile) | |
1 | g.169555191T>C | CA343130839 | F5 | c.1109A>G (p.Asn370Ser) c.698A>G (p.Asn233Ser) | |
1 | g.169555191T>G | CA343130851 | F5 | c.1109A>C (p.Asn370Thr) c.698A>C (p.Asn233Thr) | |
1 | g.169555192T>A | CA343130853 | F5 | c.1108A>T (p.Asn370Tyr) c.697A>T (p.Asn233Tyr) | |
1 | g.169555192T>C | CA343130864 | F5 | c.1108A>G (p.Asn370Asp) c.697A>G (p.Asn233Asp) | |
1 | g.169555192T>G | CA343130869 | F5 | c.1108A>C (p.Asn370His) c.697A>C (p.Asn233His) | |
1 | g.169555193C>A | CA421733521 | F5 | c.1107G>T (p.Ala369=) c.696G>T (p.Ala232=) | |
1 | g.169555193C= | CA1206149207 | F5 | c.1107G= (p.Ala369=) c.696G= (p.Ala232=) | |
1 | g.169555193C>G | CA421733523 | F5 | c.1107G>C (p.Ala369=) c.696G>C (p.Ala232=) | |
1 | g.169555193C>T | CA1234439 | F5 | c.1107G>A (p.Ala369=) c.696G>A (p.Ala232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169555193_169555194delinsTT | CA645528099 | F5 | c.1106_1107delinsAA (p.Ala369Glu) c.695_696delinsAA (p.Ala232Glu) | COSMIC |
1 | g.169555194G>A | CA1234440 | F5 | c.1106C>T (p.Ala369Val) c.695C>T (p.Ala232Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.169555194G>C | CA343130876 | F5 | c.1106C>G (p.Ala369Gly) c.695C>G (p.Ala232Gly) | |
1 | g.169555194G= | CA1143450548 | F5 | c.1106C= (p.Ala369=) c.695C= (p.Ala232=) | |
1 | g.169555194G>T | CA343130877 | F5 | c.1106C>A (p.Ala369Glu) c.695C>A (p.Ala232Glu) | |
1 | g.169555195C>A | CA343130878 | F5 | c.1105G>T (p.Ala369Ser) c.694G>T (p.Ala232Ser) | |
1 | g.169555195C>G | CA343130879 | F5 | c.1105G>C (p.Ala369Pro) c.694G>C (p.Ala232Pro) | |
1 | g.169555195C>T | CA343130880 | F5 | c.1105G>A (p.Ala369Thr) c.694G>A (p.Ala232Thr) | |
1 | g.169555196T>A | CA421733533 | F5 | c.1104A>T (p.Pro368=) c.693A>T (p.Pro231=) | |
1 | g.169555196T>C | CA421733534 | F5 | c.1104A>G (p.Pro368=) c.693A>G (p.Pro231=) | |
1 | g.169555196T>G | CA421733536 | F5 | c.1104A>C (p.Pro368=) c.693A>C (p.Pro231=) | |
1 | g.169555197G>A | CA343130881 | F5 | c.1103C>T (p.Pro368Leu) c.692C>T (p.Pro231Leu) | |
1 | g.169555197G>C | CA343130883 | F5 | c.1103C>G (p.Pro368Arg) c.692C>G (p.Pro231Arg) | |
1 | g.169555197G>T | CA343130887 | F5 | c.1103C>A (p.Pro368Gln) c.692C>A (p.Pro231Gln) | |
1 | g.169555198G>A | CA343130888 | F5 | c.1102C>T (p.Pro368Ser) c.691C>T (p.Pro231Ser) | gnomAD v4 |
1 | g.169555198G>C | CA1234441 | F5 | c.1102C>G (p.Pro368Ala) c.691C>G (p.Pro231Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169555198G= | CA1206149219 | F5 | c.1102C= (p.Pro368=) c.691C= (p.Pro231=) | |
1 | g.169555198G>T | CA343130890 | F5 | c.1102C>A (p.Pro368Thr) c.691C>A (p.Pro231Thr) | gnomAD v4 |
1 | g.169555199T>A | CA421733545 | F5 | c.1101A>T (p.Ile367=) c.690A>T (p.Ile230=) | dbSNP |
1 | g.169555199T>C | CA343130906 | F5 | c.1101A>G (p.Ile367Met) c.690A>G (p.Ile230Met) | |
1 | g.169555199T>G | CA421733548 | F5 | c.1101A>C (p.Ile367=) c.690A>C (p.Ile230=) | |
1 | g.169555199T= | CA1206149224 | F5 | c.1101A= (p.Ile367=) c.690A= (p.Ile230=) | |
1 | g.169555200A>C | CA343130919 | F5 | c.1100T>G (p.Ile367Arg) c.689T>G (p.Ile230Arg) | gnomAD v4 |
1 | g.169555200A>G | CA343130918 | F5 | c.1100T>C (p.Ile367Thr) c.689T>C (p.Ile230Thr) | |
1 | g.169555200A>T | CA343130913 | F5 | c.1100T>A (p.Ile367Lys) c.689T>A (p.Ile230Lys) | |
1 | g.169555201T>A | CA343130922 | F5 | c.1099A>T (p.Ile367Leu) c.688A>T (p.Ile230Leu) | |
1 | g.169555201T>C | CA343130926 | F5 | c.1099A>G (p.Ile367Val) c.688A>G (p.Ile230Val) | |
1 | g.169555201T>G | CA343130940 | F5 | c.1099A>C (p.Ile367Leu) c.688A>C (p.Ile230Leu) | |
1 | g.169555202T>A | CA421733556 | F5 | c.1098A>T (p.Val366=) c.687A>T (p.Val229=) | |
1 | g.169555202T>C | CA421733559 | F5 | c.1098A>G (p.Val366=) c.687A>G (p.Val229=) | gnomAD v4 |
1 | g.169555202T>G | CA421733558 | F5 | c.1098A>C (p.Val366=) c.687A>C (p.Val229=) | |
1 | g.169555203A= | CA1206149228 | F5 | c.1097T= (p.Val366=) c.686T= (p.Val229=) | |
1 | g.169555203A>C | CA343130943 | F5 | c.1097T>G (p.Val366Gly) c.686T>G (p.Val229Gly) | dbSNP gnomAD v4 |
1 | g.169555203A>G | CA343130947 | F5 | c.1097T>C (p.Val366Ala) c.686T>C (p.Val229Ala) | |
1 | g.169555203A>T | CA343130951 | F5 | c.1097T>A (p.Val366Glu) c.686T>A (p.Val229Glu) | |
1 | g.169555204C>A | CA343130958 | F5 | c.1096G>T (p.Val366Leu) c.685G>T (p.Val229Leu) | |
1 | g.169555204C>G | CA343130956 | F5 | c.1096G>C (p.Val366Leu) c.685G>C (p.Val229Leu) | |
1 | g.169555204C>T | CA343130954 | F5 | c.1096G>A (p.Val366Ile) c.685G>A (p.Val229Ile) | |
1 | g.169555205A>C | CA421733567 | F5 | c.1095T>G (p.Pro365=) c.684T>G (p.Pro228=) | |
1 | g.169555205A>G | CA421733569 | F5 | c.1095T>C (p.Pro365=) c.684T>C (p.Pro228=) | gnomAD v4 |
1 | g.169555205A>T | CA421733571 | F5 | c.1095T>A (p.Pro365=) c.684T>A (p.Pro228=) | |
1 | g.169555206G>A | CA343130961 | F5 | c.1094C>T (p.Pro365Leu) c.683C>T (p.Pro228Leu) | dbSNP gnomAD v4 |
1 | g.169555206G>C | CA343130962 | F5 | c.1094C>G (p.Pro365Arg) c.683C>G (p.Pro228Arg) | |
1 | g.169555206G= | CA1206149232 | F5 | c.1094C= (p.Pro365=) c.683C= (p.Pro228=) | |
1 | g.169555206G>T | CA343130967 | F5 | c.1094C>A (p.Pro365His) c.683C>A (p.Pro228His) | |
1 | g.169555207G>A | CA343130974 | F5 | c.1093C>T (p.Pro365Ser) c.682C>T (p.Pro228Ser) | |
1 | g.169555207G>C | CA343130975 | F5 | c.1093C>G (p.Pro365Ala) c.682C>G (p.Pro228Ala) | |
1 | g.169555207G>T | CA343130978 | F5 | c.1093C>A (p.Pro365Thr) c.682C>A (p.Pro228Thr) | |
1 | g.169555208T>A | CA421733577 | F5 | c.1092A>T (p.Ala364=) c.681A>T (p.Ala227=) | |
1 | g.169555208T>C | CA421733579 | F5 | c.1092A>G (p.Ala364=) c.681A>G (p.Ala227=) | |
1 | g.169555208T>G | CA421733581 | F5 | c.1092A>C (p.Ala364=) c.681A>C (p.Ala227=) | |
1 | g.169555209G>A | CA343130982 | F5 | c.1091C>T (p.Ala364Val) c.680C>T (p.Ala227Val) | |
1 | g.169555209G>C | CA343130987 | F5 | c.1091C>G (p.Ala364Gly) c.680C>G (p.Ala227Gly) | gnomAD v4 |
1 | g.169555209G>T | CA343130984 | F5 | c.1091C>A (p.Ala364Glu) c.680C>A (p.Ala227Glu) | |
1 | g.169555210C>A | CA343130996 | F5 | c.1090G>T (p.Ala364Ser) c.679G>T (p.Ala227Ser) | |
1 | g.169555210C>G | CA343130999 | F5 | c.1090G>C (p.Ala364Pro) c.679G>C (p.Ala227Pro) | |
1 | g.169555210C>T | CA343131000 | F5 | c.1090G>A (p.Ala364Thr) c.679G>A (p.Ala227Thr) | |
1 | g.169555211A= | CA1206149234 | F5 | c.1089T= (p.Tyr363=) c.678T= (p.Tyr226=) | |
1 | g.169555211A>C | CA343131003 | F5 | c.1089T>G (p.Tyr363Ter) c.678T>G (p.Tyr226Ter) | |
1 | g.169555211A>G | CA421733590 | F5 | c.1089T>C (p.Tyr363=) c.678T>C (p.Tyr226=) | ClinVar dbSNP COSMIC |
1 | g.169555211A>T | CA343131005 | F5 | c.1089T>A (p.Tyr363Ter) c.678T>A (p.Tyr226Ter) | |
1 | g.169555212T>A | CA343131008 | F5 | c.1088A>T (p.Tyr363Phe) c.677A>T (p.Tyr226Phe) | |
1 | g.169555212T>C | CA343131010 | F5 | c.1088A>G (p.Tyr363Cys) c.677A>G (p.Tyr226Cys) | |
1 | g.169555212T>G | CA343131012 | F5 | c.1088A>C (p.Tyr363Ser) c.677A>C (p.Tyr226Ser) | |
1 | g.169555213A= | CA1206149235 | F5 | c.1087T= (p.Tyr363=) c.676T= (p.Tyr226=) | |
1 | g.169555213A>C | CA343131014 | F5 | c.1087T>G (p.Tyr363Asp) c.676T>G (p.Tyr226Asp) | |
1 | g.169555213A>G | CA343131017 | F5 | c.1087T>C (p.Tyr363His) c.676T>C (p.Tyr226His) | dbSNP gnomAD v4 |
1 | g.169555213A>T | CA343131020 | F5 | c.1087T>A (p.Tyr363Asn) c.676T>A (p.Tyr226Asn) | |
1 | g.169555214G>A | CA1234442 | F5 | c.1086C>T (p.Asp362=) c.675C>T (p.Asp225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555214G>C | CA343131060 | F5 | c.1086C>G (p.Asp362Glu) c.675C>G (p.Asp225Glu) | gnomAD v4 |
1 | g.169555214G= | CA1142210869 | F5 | c.1086C= (p.Asp362=) c.675C= (p.Asp225=) | |
1 | g.169555214G>T | CA343131055 | F5 | c.1086C>A (p.Asp362Glu) c.675C>A (p.Asp225Glu) | |
1 | g.169555215T>A | CA343131061 | F5 | c.1085A>T (p.Asp362Val) c.674A>T (p.Asp225Val) | |
1 | g.169555215T>C | CA343131063 | F5 | c.1085A>G (p.Asp362Gly) c.674A>G (p.Asp225Gly) | |
1 | g.169555215T>G | CA343131062 | F5 | c.1085A>C (p.Asp362Ala) c.674A>C (p.Asp225Ala) | |
1 | g.169555216C>A | CA343131064 | F5 | c.1084G>T (p.Asp362Tyr) c.673G>T (p.Asp225Tyr) | |
1 | g.169555216C= | CA1206149245 | F5 | c.1084G= (p.Asp362=) c.673G= (p.Asp225=) | |
1 | g.169555216C>G | CA343131065 | F5 | c.1084G>C (p.Asp362His) c.673G>C (p.Asp225His) | |
1 | g.169555216C>T | CA32390569 | F5 | c.1084G>A (p.Asp362Asn) c.673G>A (p.Asp225Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169555217C>A | CA343131097 | F5 | c.1083G>T (p.Trp361Cys) c.672G>T (p.Trp224Cys) | |
1 | g.169555217C>G | CA343131106 | F5 | c.1083G>C (p.Trp361Cys) c.672G>C (p.Trp224Cys) | |
1 | g.169555217C>T | CA343131103 | F5 | c.1083G>A (p.Trp361Ter) c.672G>A (p.Trp224Ter) | |
1 | g.169555218C>A | CA343131122 | F5 | c.1082G>T (p.Trp361Leu) c.671G>T (p.Trp224Leu) | |
1 | g.169555218C>G | CA343131125 | F5 | c.1082G>C (p.Trp361Ser) c.671G>C (p.Trp224Ser) | |
1 | g.169555218C>T | CA343131138 | F5 | c.1082G>A (p.Trp361Ter) c.671G>A (p.Trp224Ter) | |
1 | g.169555219A>C | CA343131143 | F5 | c.1081T>G (p.Trp361Gly) c.670T>G (p.Trp224Gly) | |
1 | g.169555219A>G | CA343131145 | F5 | c.1081T>C (p.Trp361Arg) c.670T>C (p.Trp224Arg) | |
1 | g.169555219A>T | CA343131150 | F5 | c.1081T>A (p.Trp361Arg) c.670T>A (p.Trp224Arg) | |
1 | g.169555220A= | CA1206149247 | F5 | c.1080T= (p.Ile360=) c.669T= (p.Ile223=) | |
1 | g.169555220A>C | CA343131160 | F5 | c.1080T>G (p.Ile360Met) c.669T>G (p.Ile223Met) | |
1 | g.169555220A>G | CA421733623 | F5 | c.1080T>C (p.Ile360=) c.669T>C (p.Ile223=) | dbSNP |
1 | g.169555220A>T | CA421733624 | F5 | c.1080T>A (p.Ile360=) c.669T>A (p.Ile223=) | |
1 | g.169555221A>C | CA343131164 | F5 | c.1079T>G (p.Ile360Ser) c.668T>G (p.Ile223Ser) | |
1 | g.169555221A>G | CA343131166 | F5 | c.1079T>C (p.Ile360Thr) c.668T>C (p.Ile223Thr) | |
1 | g.169555221A>T | CA343131168 | F5 | c.1079T>A (p.Ile360Asn) c.668T>A (p.Ile223Asn) | |
1 | g.169555221_169555222delinsAT | CA1206149250 | F5 | c.1078_1079delinsAT (p.Ile360=) c.667_668delinsAT (p.Ile223=) | |
1 | g.169555222del | CA1234443 | F5 | c.1078del (p.Ile360PhefsTer7) c.667del (p.Ile223PhefsTer7) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555222T>A | CA343131179 | F5 | c.1078A>T (p.Ile360Phe) c.667A>T (p.Ile223Phe) | |
1 | g.169555222T>C | CA343131173 | F5 | c.1078A>G (p.Ile360Val) c.667A>G (p.Ile223Val) | gnomAD v4 |
1 | g.169555222T>G | CA343131177 | F5 | c.1078A>C (p.Ile360Leu) c.667A>C (p.Ile223Leu) | |
1 | g.169555223del | CA343131180 | F5 | c.1077del (p.Ile360PhefsTer7) c.666del (p.Ile223PhefsTer7) | |
1 | g.169555223G>A | CA421733634 | F5 | c.1077C>T (p.Val359=) c.666C>T (p.Val222=) | |
1 | g.169555223G>C | CA421733632 | F5 | c.1077C>G (p.Val359=) c.666C>G (p.Val222=) | |
1 | g.169555223G>T | CA421733629 | F5 | c.1077C>A (p.Val359=) c.666C>A (p.Val222=) | gnomAD v4 |
1 | g.169555224A>C | CA343131182 | F5 | c.1076T>G (p.Val359Gly) c.665T>G (p.Val222Gly) | gnomAD v4 |
1 | g.169555224A>G | CA343131185 | F5 | c.1076T>C (p.Val359Ala) c.665T>C (p.Val222Ala) | |
1 | g.169555224A>T | CA343131187 | F5 | c.1076T>A (p.Val359Asp) c.665T>A (p.Val222Asp) | |
1 | g.169555225C>A | CA343131191 | F5 | c.1075G>T (p.Val359Phe) c.664G>T (p.Val222Phe) | |
1 | g.169555225C>G | CA343131192 | F5 | c.1075G>C (p.Val359Leu) c.664G>C (p.Val222Leu) | |
1 | g.169555225C>T | CA343131194 | F5 | c.1075G>A (p.Val359Ile) c.664G>A (p.Val222Ile) | |
1 | g.169555226T>A | CA343131198 | F5 | c.1074A>T (p.Glu358Asp) c.663A>T (p.Glu221Asp) | |
1 | g.169555226T>C | CA421733643 | F5 | c.1074A>G (p.Glu358=) c.663A>G (p.Glu221=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555226T>G | CA343131201 | F5 | c.1074A>C (p.Glu358Asp) c.663A>C (p.Glu221Asp) | |
1 | g.169555226T= | CA1206149255 | F5 | c.1074A= (p.Glu358=) c.663A= (p.Glu221=) | |
1 | g.169555227T>A | CA343131207 | F5 | c.1073A>T (p.Glu358Val) c.662A>T (p.Glu221Val) | |
1 | g.169555227T>C | CA343131208 | F5 | c.1073A>G (p.Glu358Gly) c.662A>G (p.Glu221Gly) | |
1 | g.169555227T>G | CA343131206 | F5 | c.1073A>C (p.Glu358Ala) c.662A>C (p.Glu221Ala) | |
1 | g.169555228C>A | CA343131209 | F5 | c.1072G>T (p.Glu358Ter) c.661G>T (p.Glu221Ter) | |
1 | g.169555228C= | CA1206149259 | F5 | c.1072G= (p.Glu358=) c.661G= (p.Glu221=) | |
1 | g.169555228C>G | CA1234444 | F5 | c.1072G>C (p.Glu358Gln) c.661G>C (p.Glu221Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169555228C>T | CA343131210 | F5 | c.1072G>A (p.Glu358Lys) c.661G>A (p.Glu221Lys) | |
1 | g.169555229C>A | CA343131214 | F5 | c.1071G>T (p.Glu357Asp) c.660G>T (p.Glu220Asp) | |
1 | g.169555229C= | CA1206149262 | F5 | c.1071G= (p.Glu357=) c.660G= (p.Glu220=) | |
1 | g.169555229C>G | CA343131224 | F5 | c.1071G>C (p.Glu357Asp) c.660G>C (p.Glu220Asp) | |
1 | g.169555229C>T | CA421733652 | F5 | c.1071G>A (p.Glu357=) c.660G>A (p.Glu220=) | dbSNP |
1 | g.169555230T>A | CA343131228 | F5 | c.1070A>T (p.Glu357Val) c.659A>T (p.Glu220Val) | |
1 | g.169555230T>C | CA343131232 | F5 | c.1070A>G (p.Glu357Gly) c.659A>G (p.Glu220Gly) | gnomAD v4 |
1 | g.169555230T>G | CA343131240 | F5 | c.1070A>C (p.Glu357Ala) c.659A>C (p.Glu220Ala) | |
1 | g.169555231C>A | CA343131243 | F5 | c.1069G>T (p.Glu357Ter) c.658G>T (p.Glu220Ter) | |
1 | g.169555231C>G | CA343131258 | F5 | c.1069G>C (p.Glu357Gln) c.658G>C (p.Glu220Gln) | COSMIC |
1 | g.169555231C>T | CA343131262 | F5 | c.1069G>A (p.Glu357Lys) c.658G>A (p.Glu220Lys) | |
1 | g.169555232T>A | CA421733662 | F5 | c.1068A>T (p.Ala356=) c.657A>T (p.Ala219=) | |
1 | g.169555232T>C | CA421733664 | F5 | c.1068A>G (p.Ala356=) c.657A>G (p.Ala219=) | |
1 | g.169555232T>G | CA421733666 | F5 | c.1068A>C (p.Ala356=) c.657A>C (p.Ala219=) | |
1 | g.169555233G>A | CA343131266 | F5 | c.1067C>T (p.Ala356Val) c.656C>T (p.Ala219Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555233G>C | CA343131267 | F5 | c.1067C>G (p.Ala356Gly) c.656C>G (p.Ala219Gly) | |
1 | g.169555233G= | CA1206149266 | F5 | c.1067C= (p.Ala356=) c.656C= (p.Ala219=) | |
1 | g.169555233G>T | CA343131264 | F5 | c.1067C>A (p.Ala356Glu) c.656C>A (p.Ala219Glu) | |
1 | g.169555234C>A | CA343131269 | F5 | c.1066G>T (p.Ala356Ser) c.655G>T (p.Ala219Ser) | |
1 | g.169555234C= | CA1206149269 | F5 | c.1066G= (p.Ala356=) c.655G= (p.Ala219=) | |
1 | g.169555234C>G | CA343131271 | F5 | c.1066G>C (p.Ala356Pro) c.655G>C (p.Ala219Pro) | |
1 | g.169555234C>T | CA343131275 | F5 | c.1066G>A (p.Ala356Thr) c.655G>A (p.Ala219Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555235A>C | CA421733676 | F5 | c.1065T>G (p.Ala355=) c.654T>G (p.Ala218=) | |
1 | g.169555235A>G | CA421733678 | F5 | c.1065T>C (p.Ala355=) c.654T>C (p.Ala218=) | |
1 | g.169555235A>T | CA421733680 | F5 | c.1065T>A (p.Ala355=) c.654T>A (p.Ala218=) | |
1 | g.169555236G>A | CA343131279 | F5 | c.1064C>T (p.Ala355Val) c.653C>T (p.Ala218Val) | |
1 | g.169555236G>C | CA343131281 | F5 | c.1064C>G (p.Ala355Gly) c.653C>G (p.Ala218Gly) | |
1 | g.169555236G>T | CA343131289 | F5 | c.1064C>A (p.Ala355Asp) c.653C>A (p.Ala218Asp) | COSMIC |
1 | g.169555237del | CA2586964376 | F5 | c.1063del (p.Ala355LeufsTer12) c.652del (p.Ala218LeufsTer12) | |
1 | g.169555237C>A | CA343131292 | F5 | c.1063G>T (p.Ala355Ser) c.652G>T (p.Ala218Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555237C= | CA1206149270 | F5 | c.1063G= (p.Ala355=) c.652G= (p.Ala218=) | |
1 | g.169555237C>G | CA343131318 | F5 | c.1063G>C (p.Ala355Pro) c.652G>C (p.Ala218Pro) | |
1 | g.169555237C>T | CA343131297 | F5 | c.1063G>A (p.Ala355Thr) c.652G>A (p.Ala218Thr) | |
1 | g.169555238A= | CA1206149272 | F5 | c.1062T= (p.Ile354=) c.651T= (p.Ile217=) | |
1 | g.169555238A>C | CA343131321 | F5 | c.1062T>G (p.Ile354Met) c.651T>G (p.Ile217Met) | ClinVar dbSNP |
1 | g.169555238A>G | CA421733691 | F5 | c.1062T>C (p.Ile354=) c.651T>C (p.Ile217=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169555238A>T | CA421733693 | F5 | c.1062T>A (p.Ile354=) c.651T>A (p.Ile217=) | |
1 | g.169555239A= | CA1143911972 | F5 | c.1061T= (p.Ile354=) c.650T= (p.Ile217=) | |
1 | g.169555239A>C | CA343131324 | F5 | c.1061T>G (p.Ile354Ser) c.650T>G (p.Ile217Ser) | |
1 | g.169555239A>G | CA1234445 | F5 | c.1061T>C (p.Ile354Thr) c.650T>C (p.Ile217Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555239A>T | CA343131333 | F5 | c.1061T>A (p.Ile354Asn) c.650T>A (p.Ile217Asn) | |
1 | g.169555240T>A | CA343131351 | F5 | c.1060A>T (p.Ile354Phe) c.649A>T (p.Ile217Phe) | |
1 | g.169555240T>C | CA343131347 | F5 | c.1060A>G (p.Ile354Val) c.649A>G (p.Ile217Val) | |
1 | g.169555240T>G | CA343131340 | F5 | c.1060A>C (p.Ile354Leu) c.649A>C (p.Ile217Leu) | |
1 | g.169555241G>A | CA421733702 | F5 | c.1059C>T (p.Phe353=) c.648C>T (p.Phe216=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555241G>C | CA1234446 | F5 | c.1059C>G (p.Phe353Leu) c.648C>G (p.Phe216Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555241G= | CA1143423797 | F5 | c.1059C= (p.Phe353=) c.648C= (p.Phe216=) | |
1 | g.169555241G>T | CA343131356 | F5 | c.1059C>A (p.Phe353Leu) c.648C>A (p.Phe216Leu) | |
1 | g.169555242A>C | CA343131359 | F5 | c.1058T>G (p.Phe353Cys) c.647T>G (p.Phe216Cys) | |
1 | g.169555242A>G | CA343131362 | F5 | c.1058T>C (p.Phe353Ser) c.647T>C (p.Phe216Ser) | |
1 | g.169555242A>T | CA343131366 | F5 | c.1058T>A (p.Phe353Tyr) c.647T>A (p.Phe216Tyr) | |
1 | g.169555243A= | CA1206149282 | F5 | c.1057T= (p.Phe353=) c.646T= (p.Phe216=) | |
1 | g.169555243A>C | CA343131383 | F5 | c.1057T>G (p.Phe353Val) c.646T>G (p.Phe216Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169555243A>G | CA343131386 | F5 | c.1057T>C (p.Phe353Leu) c.646T>C (p.Phe216Leu) | gnomAD v4 |
1 | g.169555243A>T | CA343131387 | F5 | c.1057T>A (p.Phe353Ile) c.646T>A (p.Phe216Ile) | |
1 | g.169555244G>A | CA421733716 | F5 | c.1056C>T (p.Tyr352=) c.645C>T (p.Tyr215=) | dbSNP gnomAD v4 |
1 | g.169555244G>C | CA343131388 | F5 | c.1056C>G (p.Tyr352Ter) c.645C>G (p.Tyr215Ter) | |
1 | g.169555244G= | CA1206149284 | F5 | c.1056C= (p.Tyr352=) c.645C= (p.Tyr215=) | |
1 | g.169555244G>T | CA343131389 | F5 | c.1056C>A (p.Tyr352Ter) c.645C>A (p.Tyr215Ter) | |
1 | g.169555245T>A | CA343131390 | F5 | c.1055A>T (p.Tyr352Phe) c.644A>T (p.Tyr215Phe) | gnomAD v4 |
1 | g.169555245T>C | CA343131391 | F5 | c.1055A>G (p.Tyr352Cys) c.644A>G (p.Tyr215Cys) | gnomAD v4 |
1 | g.169555245T>G | CA343131394 | F5 | c.1055A>C (p.Tyr352Ser) c.644A>C (p.Tyr215Ser) | |
1 | g.169555245_169555248dup | CA2649036322 | F5 | c.1052_1055dup (p.Tyr352Ter) c.641_644dup (p.Tyr215Ter) | gnomAD v4 |
1 | g.169555246A= | CA1206149287 | F5 | c.1054T= (p.Tyr352=) c.643T= (p.Tyr215=) | |
1 | g.169555246A>C | CA343131405 | F5 | c.1054T>G (p.Tyr352Asp) c.643T>G (p.Tyr215Asp) | |
1 | g.169555246A>G | CA343131398 | F5 | c.1054T>C (p.Tyr352His) c.643T>C (p.Tyr215His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169555246A>T | CA343131404 | F5 | c.1054T>A (p.Tyr352Asn) c.643T>A (p.Tyr215Asn) | |
1 | g.169555247T>A | CA343131407 | F5 | c.1053A>T (p.Glu351Asp) c.642A>T (p.Glu214Asp) | |
1 | g.169555247T>C | CA421733739 | F5 | c.1053A>G (p.Glu351=) c.642A>G (p.Glu214=) | |
1 | g.169555247T>G | CA343131410 | F5 | c.1053A>C (p.Glu351Asp) c.642A>C (p.Glu214Asp) | |
1 | g.169555248T>A | CA343131418 | F5 | c.1052A>T (p.Glu351Val) c.641A>T (p.Glu214Val) | |
1 | g.169555248T>C | CA343131423 | F5 | c.1052A>G (p.Glu351Gly) c.641A>G (p.Glu214Gly) | |
1 | g.169555248T>G | CA343131426 | F5 | c.1052A>C (p.Glu351Ala) c.641A>C (p.Glu214Ala) | |
1 | g.169555249C>A | CA343131430 | F5 | c.1051G>T (p.Glu351Ter) c.640G>T (p.Glu214Ter) | |
1 | g.169555249C>G | CA343131432 | F5 | c.1051G>C (p.Glu351Gln) c.640G>C (p.Glu214Gln) | |
1 | g.169555249C>T | CA343131436 | F5 | c.1051G>A (p.Glu351Lys) c.640G>A (p.Glu214Lys) | |
1 | g.169555250C>A | CA343131439 | F5 | c.1050G>T (p.Trp350Cys) c.639G>T (p.Trp213Cys) | |
1 | g.169555250C>G | CA343131443 | F5 | c.1050G>C (p.Trp350Cys) c.639G>C (p.Trp213Cys) | |
1 | g.169555250C>T | CA343131445 | F5 | c.1050G>A (p.Trp350Ter) c.639G>A (p.Trp213Ter) |