Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154860540A>C | CA519356230 | F8 | c.6792T>G (p.Thr2264=) c.525T>G (p.Thr175=) c.387T>G (p.Thr129=) c.6687T>G (p.Thr2229=) | |
X | g.154860540A>G | CA519356227 | F8 | c.6792T>C (p.Thr2264=) c.525T>C (p.Thr175=) c.387T>C (p.Thr129=) c.6687T>C (p.Thr2229=) | gnomAD v4 |
X | g.154860540A>T | CA519356228 | F8 | c.6792T>A (p.Thr2264=) c.525T>A (p.Thr175=) c.387T>A (p.Thr129=) c.6687T>A (p.Thr2229=) | |
X | g.154860541G>A | CA414904204 | F8 | c.6791C>T (p.Thr2264Ile) c.524C>T (p.Thr175Ile) c.386C>T (p.Thr129Ile) c.6686C>T (p.Thr2229Ile) | dbSNP |
X | g.154860541G>C | CA414904206 | F8 | c.6791C>G (p.Thr2264Ser) c.524C>G (p.Thr175Ser) c.386C>G (p.Thr129Ser) c.6686C>G (p.Thr2229Ser) | |
X | g.154860541G= | CA2466815014 | F8 | c.6791C= (p.Thr2264=) c.524C= (p.Thr175=) c.386C= (p.Thr129=) c.6686C= (p.Thr2229=) | |
X | g.154860541G>T | CA414904208 | F8 | c.6791C>A (p.Thr2264Asn) c.524C>A (p.Thr175Asn) c.386C>A (p.Thr129Asn) c.6686C>A (p.Thr2229Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154860542T>A | CA414904231 | F8 | c.6790A>T (p.Thr2264Ser) c.523A>T (p.Thr175Ser) c.385A>T (p.Thr129Ser) c.6685A>T (p.Thr2229Ser) | |
X | g.154860542T>C | CA414904250 | F8 | c.6790A>G (p.Thr2264Ala) c.523A>G (p.Thr175Ala) c.385A>G (p.Thr129Ala) c.6685A>G (p.Thr2229Ala) | |
X | g.154860542T>G | CA414904257 | F8 | c.6790A>C (p.Thr2264Pro) c.523A>C (p.Thr175Pro) c.385A>C (p.Thr129Pro) c.6685A>C (p.Thr2229Pro) | |
X | g.154860544_154860547dup | CA2695167719 | F8 | c.6787_6790dup (p.Thr2264AsnfsTer?) c.520_523dup (p.Thr175AsnfsTer?) c.382_385dup (p.Thr129AsnfsTer?) c.6682_6685dup (p.Thr2229AsnfsTer?) | gnomAD v4 |
X | g.154860543A>C | CA519356232 | F8 | c.6789T>G (p.Thr2263=) c.522T>G (p.Thr174=) c.384T>G (p.Thr128=) c.6684T>G (p.Thr2228=) | |
X | g.154860543A>G | CA519356235 | F8 | c.6789T>C (p.Thr2263=) c.522T>C (p.Thr174=) c.384T>C (p.Thr128=) c.6684T>C (p.Thr2228=) | gnomAD v4 |
X | g.154860543A>T | CA519356234 | F8 | c.6789T>A (p.Thr2263=) c.522T>A (p.Thr174=) c.384T>A (p.Thr128=) c.6684T>A (p.Thr2228=) | |
X | g.154860544G>A | CA414904263 | F8 | c.6788C>T (p.Thr2263Ile) c.521C>T (p.Thr174Ile) c.383C>T (p.Thr128Ile) c.6683C>T (p.Thr2228Ile) | |
X | g.154860544G>C | CA414904268 | F8 | c.6788C>G (p.Thr2263Ser) c.521C>G (p.Thr174Ser) c.383C>G (p.Thr128Ser) c.6683C>G (p.Thr2228Ser) | |
X | g.154860544G>T | CA414904275 | F8 | c.6788C>A (p.Thr2263Asn) c.521C>A (p.Thr174Asn) c.383C>A (p.Thr128Asn) c.6683C>A (p.Thr2228Asn) | |
X | g.154860544_154860546dup | CA2695237137 | F8 | c.6786_6788dup (p.Thr2263_Thr2264insThr) c.519_521dup (p.Thr174_Thr175insThr) c.381_383dup (p.Thr128_Thr129insThr) c.6681_6683dup (p.Thr2228_Thr2229insThr) | |
X | g.154860546_154860554del | CA2695237136 | F8 | c.6780_6788del (p.Gly2261_Thr2263del) c.513_521del (p.Gly172_Thr174del) c.375_383del (p.Gly126_Thr128del) c.6675_6683del (p.Gly2226_Thr2228del) | |
X | g.154860545T>A | CA414904286 | F8 | c.6787A>T (p.Thr2263Ser) c.520A>T (p.Thr174Ser) c.382A>T (p.Thr128Ser) c.6682A>T (p.Thr2228Ser) | |
X | g.154860545T>C | CA414904282 | F8 | c.6787A>G (p.Thr2263Ala) c.520A>G (p.Thr174Ala) c.382A>G (p.Thr128Ala) c.6682A>G (p.Thr2228Ala) | |
X | g.154860545T>G | CA414904280 | F8 | c.6787A>C (p.Thr2263Pro) c.520A>C (p.Thr174Pro) c.382A>C (p.Thr128Pro) c.6682A>C (p.Thr2228Pro) | |
X | g.154860546T>A | CA519356237 | F8 | c.6786A>T (p.Val2262=) c.519A>T (p.Val173=) c.381A>T (p.Val127=) c.6681A>T (p.Val2227=) | |
X | g.154860546T>C | CA519356238 | F8 | c.6786A>G (p.Val2262=) c.519A>G (p.Val173=) c.381A>G (p.Val127=) c.6681A>G (p.Val2227=) | dbSNP |
X | g.154860546T>G | CA519356240 | F8 | c.6786A>C (p.Val2262=) c.519A>C (p.Val173=) c.381A>C (p.Val127=) c.6681A>C (p.Val2227=) | |
X | g.154860546T= | CA2466815015 | F8 | c.6786A= (p.Val2262=) c.519A= (p.Val173=) c.381A= (p.Val127=) c.6681A= (p.Val2227=) | |
X | g.154860547A>C | CA414904291 | F8 | c.6785T>G (p.Val2262Gly) c.518T>G (p.Val173Gly) c.380T>G (p.Val127Gly) c.6680T>G (p.Val2227Gly) | |
X | g.154860547A>G | CA414904293 | F8 | c.6785T>C (p.Val2262Ala) c.518T>C (p.Val173Ala) c.380T>C (p.Val127Ala) c.6680T>C (p.Val2227Ala) | |
X | g.154860547A>T | CA414904295 | F8 | c.6785T>A (p.Val2262Glu) c.518T>A (p.Val173Glu) c.380T>A (p.Val127Glu) c.6680T>A (p.Val2227Glu) | |
X | g.154860548C>A | CA414904305 | F8 | c.6784G>T (p.Val2262Leu) c.517G>T (p.Val173Leu) c.379G>T (p.Val127Leu) c.6679G>T (p.Val2227Leu) | |
X | g.154860548C>G | CA414904329 | F8 | c.6784G>C (p.Val2262Leu) c.517G>C (p.Val173Leu) c.379G>C (p.Val127Leu) c.6679G>C (p.Val2227Leu) | |
X | g.154860548C>T | CA414904337 | F8 | c.6784G>A (p.Val2262Ile) c.517G>A (p.Val173Ile) c.379G>A (p.Val127Ile) c.6679G>A (p.Val2227Ile) | |
X | g.154860549T>A | CA519356241 | F8 | c.6783A>T (p.Gly2261=) c.516A>T (p.Gly172=) c.378A>T (p.Gly126=) c.6678A>T (p.Gly2226=) | |
X | g.154860549T>C | CA519356242 | F8 | c.6783A>G (p.Gly2261=) c.516A>G (p.Gly172=) c.378A>G (p.Gly126=) c.6678A>G (p.Gly2226=) | |
X | g.154860549T>G | CA519356244 | F8 | c.6783A>C (p.Gly2261=) c.516A>C (p.Gly172=) c.378A>C (p.Gly126=) c.6678A>C (p.Gly2226=) | |
X | g.154860550C>A | CA414904343 | F8 | c.6782G>T (p.Gly2261Val) c.515G>T (p.Gly172Val) c.377G>T (p.Gly126Val) c.6677G>T (p.Gly2226Val) | |
X | g.154860550C>G | CA414904358 | F8 | c.6782G>C (p.Gly2261Ala) c.515G>C (p.Gly172Ala) c.377G>C (p.Gly126Ala) c.6677G>C (p.Gly2226Ala) | |
X | g.154860550C>T | CA414904362 | F8 | c.6782G>A (p.Gly2261Glu) c.515G>A (p.Gly172Glu) c.377G>A (p.Gly126Glu) c.6677G>A (p.Gly2226Glu) | |
X | g.154860551C>A | CA414904371 | F8 | c.6781G>T (p.Gly2261Ter) c.514G>T (p.Gly172Ter) c.376G>T (p.Gly126Ter) c.6676G>T (p.Gly2226Ter) | |
X | g.154860551C>G | CA414904373 | F8 | c.6781G>C (p.Gly2261Arg) c.514G>C (p.Gly172Arg) c.376G>C (p.Gly126Arg) c.6676G>C (p.Gly2226Arg) | |
X | g.154860551C>T | CA414904375 | F8 | c.6781G>A (p.Gly2261Arg) c.514G>A (p.Gly172Arg) c.376G>A (p.Gly126Arg) c.6676G>A (p.Gly2226Arg) | |
X | g.154860552T>A | CA519356245 | F8 | c.6780A>T (p.Thr2260=) c.513A>T (p.Thr171=) c.375A>T (p.Thr125=) c.6675A>T (p.Thr2225=) | |
X | g.154860552T>C | CA519356247 | F8 | c.6780A>G (p.Thr2260=) c.513A>G (p.Thr171=) c.375A>G (p.Thr125=) c.6675A>G (p.Thr2225=) | |
X | g.154860552T>G | CA519356248 | F8 | c.6780A>C (p.Thr2260=) c.513A>C (p.Thr171=) c.375A>C (p.Thr125=) c.6675A>C (p.Thr2225=) | |
X | g.154860553G>A | CA414904382 | F8 | c.6779C>T (p.Thr2260Ile) c.512C>T (p.Thr171Ile) c.374C>T (p.Thr125Ile) c.6674C>T (p.Thr2225Ile) | gnomAD v4 |
X | g.154860553G>C | CA414904378 | F8 | c.6779C>G (p.Thr2260Arg) c.512C>G (p.Thr171Arg) c.374C>G (p.Thr125Arg) c.6674C>G (p.Thr2225Arg) | |
X | g.154860553G>T | CA414904380 | F8 | c.6779C>A (p.Thr2260Lys) c.512C>A (p.Thr171Lys) c.374C>A (p.Thr125Lys) c.6674C>A (p.Thr2225Lys) | |
X | g.154860554T>A | CA414904385 | F8 | c.6778A>T (p.Thr2260Ser) c.511A>T (p.Thr171Ser) c.373A>T (p.Thr125Ser) c.6673A>T (p.Thr2225Ser) | |
X | g.154860554T>C | CA414904387 | F8 | c.6778A>G (p.Thr2260Ala) c.511A>G (p.Thr171Ala) c.373A>G (p.Thr125Ala) c.6673A>G (p.Thr2225Ala) | |
X | g.154860554T>G | CA414904388 | F8 | c.6778A>C (p.Thr2260Pro) c.511A>C (p.Thr171Pro) c.373A>C (p.Thr125Pro) c.6673A>C (p.Thr2225Pro) | |
X | g.154860555G>A | CA519356249 | F8 | c.6777C>T (p.Val2259=) c.510C>T (p.Val170=) c.372C>T (p.Val124=) c.6672C>T (p.Val2224=) | |
X | g.154860555G>C | CA519356251 | F8 | c.6777C>G (p.Val2259=) c.510C>G (p.Val170=) c.372C>G (p.Val124=) c.6672C>G (p.Val2224=) | |
X | g.154860555G>T | CA519356252 | F8 | c.6777C>A (p.Val2259=) c.510C>A (p.Val170=) c.372C>A (p.Val124=) c.6672C>A (p.Val2224=) | |
X | g.154860556A= | CA2466815016 | F8 | c.6776T= (p.Val2259=) c.509T= (p.Val170=) c.371T= (p.Val124=) c.6671T= (p.Val2224=) | |
X | g.154860556A>C | CA414904391 | F8 | c.6776T>G (p.Val2259Gly) c.509T>G (p.Val170Gly) c.371T>G (p.Val124Gly) c.6671T>G (p.Val2224Gly) | |
X | g.154860556A>G | CA414904397 | F8 | c.6776T>C (p.Val2259Ala) c.509T>C (p.Val170Ala) c.371T>C (p.Val124Ala) c.6671T>C (p.Val2224Ala) | |
X | g.154860556A>T | CA414904400 | F8 | c.6776T>A (p.Val2259Asp) c.509T>A (p.Val170Asp) c.371T>A (p.Val124Asp) c.6671T>A (p.Val2224Asp) | ClinVar dbSNP |
X | g.154860557C>A | CA414904404 | F8 | c.6775G>T (p.Val2259Phe) c.508G>T (p.Val170Phe) c.370G>T (p.Val124Phe) c.6670G>T (p.Val2224Phe) | dbSNP |
X | g.154860557C= | CA2466815017 | F8 | c.6775G= (p.Val2259=) c.508G= (p.Val170=) c.370G= (p.Val124=) c.6670G= (p.Val2224=) | |
X | g.154860557C>G | CA414904410 | F8 | c.6775G>C (p.Val2259Leu) c.508G>C (p.Val170Leu) c.370G>C (p.Val124Leu) c.6670G>C (p.Val2224Leu) | gnomAD v4 |
X | g.154860557C>T | CA414904414 | F8 | c.6775G>A (p.Val2259Ile) c.508G>A (p.Val170Ile) c.370G>A (p.Val124Ile) c.6670G>A (p.Val2224Ile) | |
X | g.154860558T>A | CA414904420 | F8 | c.6774A>T (p.Lys2258Asn) c.507A>T (p.Lys169Asn) c.369A>T (p.Lys123Asn) c.6669A>T (p.Lys2223Asn) | |
X | g.154860558T>C | CA519356254 | F8 | c.6774A>G (p.Lys2258=) c.507A>G (p.Lys169=) c.369A>G (p.Lys123=) c.6669A>G (p.Lys2223=) | |
X | g.154860558T>G | CA414904423 | F8 | c.6774A>C (p.Lys2258Asn) c.507A>C (p.Lys169Asn) c.369A>C (p.Lys123Asn) c.6669A>C (p.Lys2223Asn) | dbSNP |
X | g.154860558T= | CA2466815018 | F8 | c.6774A= (p.Lys2258=) c.507A= (p.Lys169=) c.369A= (p.Lys123=) c.6669A= (p.Lys2223=) | |
X | g.154860559T>A | CA414904431 | F8 | c.6773A>T (p.Lys2258Ile) c.506A>T (p.Lys169Ile) c.368A>T (p.Lys123Ile) c.6668A>T (p.Lys2223Ile) | |
X | g.154860559T>C | CA414904427 | F8 | c.6773A>G (p.Lys2258Arg) c.506A>G (p.Lys169Arg) c.368A>G (p.Lys123Arg) c.6668A>G (p.Lys2223Arg) | |
X | g.154860559T>G | CA414904426 | F8 | c.6773A>C (p.Lys2258Thr) c.506A>C (p.Lys169Thr) c.368A>C (p.Lys123Thr) c.6668A>C (p.Lys2223Thr) | |
X | g.154860560T>A | CA414904435 | F8 | c.6772A>T (p.Lys2258Ter) c.505A>T (p.Lys169Ter) c.367A>T (p.Lys123Ter) c.6667A>T (p.Lys2223Ter) | dbSNP |
X | g.154860560T>C | CA414904444 | F8 | c.6772A>G (p.Lys2258Glu) c.505A>G (p.Lys169Glu) c.367A>G (p.Lys123Glu) c.6667A>G (p.Lys2223Glu) | dbSNP |
X | g.154860560T>G | CA414904441 | F8 | c.6772A>C (p.Lys2258Gln) c.505A>C (p.Lys169Gln) c.367A>C (p.Lys123Gln) c.6667A>C (p.Lys2223Gln) | |
X | g.154860560T= | CA2466815019 | F8 | c.6772A= (p.Lys2258=) c.505A= (p.Lys169=) c.367A= (p.Lys123=) c.6667A= (p.Lys2223=) | |
X | g.154860561C>A | CA414904453 | F8 | c.6771G>T (p.Met2257Ile) c.504G>T (p.Met168Ile) c.366G>T (p.Met122Ile) c.6666G>T (p.Met2222Ile) | |
X | g.154860561C>G | CA414904468 | F8 | c.6771G>C (p.Met2257Ile) c.504G>C (p.Met168Ile) c.366G>C (p.Met122Ile) c.6666G>C (p.Met2222Ile) | |
X | g.154860561C>T | CA414904467 | F8 | c.6771G>A (p.Met2257Ile) c.504G>A (p.Met168Ile) c.366G>A (p.Met122Ile) c.6666G>A (p.Met2222Ile) | gnomAD v4 |
X | g.154860562A>C | CA414904469 | F8 | c.6770T>G (p.Met2257Arg) c.503T>G (p.Met168Arg) c.365T>G (p.Met122Arg) c.6665T>G (p.Met2222Arg) | |
X | g.154860562A>G | CA414904475 | F8 | c.6770T>C (p.Met2257Thr) c.503T>C (p.Met168Thr) c.365T>C (p.Met122Thr) c.6665T>C (p.Met2222Thr) | |
X | g.154860562A>T | CA414904471 | F8 | c.6770T>A (p.Met2257Lys) c.503T>A (p.Met168Lys) c.365T>A (p.Met122Lys) c.6665T>A (p.Met2222Lys) | |
X | g.154860563T>A | CA414904482 | F8 | c.6769A>T (p.Met2257Leu) c.502A>T (p.Met168Leu) c.364A>T (p.Met122Leu) c.6664A>T (p.Met2222Leu) | |
X | g.154860563T>C | CA343869 | F8 | c.6769A>G (p.Met2257Val) c.502A>G (p.Met168Val) c.364A>G (p.Met122Val) c.6664A>G (p.Met2222Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154860563T>G | CA414904508 | F8 | c.6769A>C (p.Met2257Leu) c.502A>C (p.Met168Leu) c.364A>C (p.Met122Leu) c.6664A>C (p.Met2222Leu) | |
X | g.154860563T= | CA2466815020 | F8 | c.6769A= (p.Met2257=) c.502A= (p.Met168=) c.364A= (p.Met122=) c.6664A= (p.Met2222=) | |
X | g.154860564T>A | CA519356257 | F8 | c.6768A>T (p.Thr2256=) c.501A>T (p.Thr167=) c.363A>T (p.Thr121=) c.6663A>T (p.Thr2221=) | |
X | g.154860564T>C | CA519356258 | F8 | c.6768A>G (p.Thr2256=) c.501A>G (p.Thr167=) c.363A>G (p.Thr121=) c.6663A>G (p.Thr2221=) | |
X | g.154860564T>G | CA519356260 | F8 | c.6768A>C (p.Thr2256=) c.501A>C (p.Thr167=) c.363A>C (p.Thr121=) c.6663A>C (p.Thr2221=) | |
X | g.154860565G>A | CA414904527 | F8 | c.6767C>T (p.Thr2256Ile) c.500C>T (p.Thr167Ile) c.362C>T (p.Thr121Ile) c.6662C>T (p.Thr2221Ile) | |
X | g.154860565G>C | CA414904534 | F8 | c.6767C>G (p.Thr2256Arg) c.500C>G (p.Thr167Arg) c.362C>G (p.Thr121Arg) c.6662C>G (p.Thr2221Arg) | |
X | g.154860565G>T | CA414904536 | F8 | c.6767C>A (p.Thr2256Lys) c.500C>A (p.Thr167Lys) c.362C>A (p.Thr121Lys) c.6662C>A (p.Thr2221Lys) | |
X | g.154860566T>A | CA10567757 | F8 | c.6766A>T (p.Thr2256Ser) c.499A>T (p.Thr167Ser) c.361A>T (p.Thr121Ser) c.6661A>T (p.Thr2221Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154860566T>C | CA337325989 | F8 | c.6766A>G (p.Thr2256Ala) c.499A>G (p.Thr167Ala) c.361A>G (p.Thr121Ala) c.6661A>G (p.Thr2221Ala) | dbSNP |
X | g.154860566T>G | CA414904541 | F8 | c.6766A>C (p.Thr2256Pro) c.499A>C (p.Thr167Pro) c.361A>C (p.Thr121Pro) c.6661A>C (p.Thr2221Pro) | |
X | g.154860566T= | CA2466815021 | F8 | c.6766A= (p.Thr2256=) c.499A= (p.Thr167=) c.361A= (p.Thr121=) c.6661A= (p.Thr2221=) | |
X | g.154860567C>A | CA414904544 | F8 | c.6765G>T (p.Lys2255Asn) c.498G>T (p.Lys166Asn) c.360G>T (p.Lys120Asn) c.6660G>T (p.Lys2220Asn) | |
X | g.154860567C>G | CA414904547 | F8 | c.6765G>C (p.Lys2255Asn) c.498G>C (p.Lys166Asn) c.360G>C (p.Lys120Asn) c.6660G>C (p.Lys2220Asn) | |
X | g.154860567C>T | CA519356262 | F8 | c.6765G>A (p.Lys2255=) c.498G>A (p.Lys166=) c.360G>A (p.Lys120=) c.6660G>A (p.Lys2220=) | |
X | g.154860568T>A | CA414904564 | F8 | c.6764A>T (p.Lys2255Met) c.497A>T (p.Lys166Met) c.359A>T (p.Lys120Met) c.6659A>T (p.Lys2220Met) | |
X | g.154860568T>C | CA414904554 | F8 | c.6764A>G (p.Lys2255Arg) c.497A>G (p.Lys166Arg) c.359A>G (p.Lys120Arg) c.6659A>G (p.Lys2220Arg) | |
X | g.154860568T>G | CA414904556 | F8 | c.6764A>C (p.Lys2255Thr) c.497A>C (p.Lys166Thr) c.359A>C (p.Lys120Thr) c.6659A>C (p.Lys2220Thr) | |
X | g.154860569T>A | CA414904572 | F8 | c.6763A>T (p.Lys2255Ter) c.496A>T (p.Lys166Ter) c.358A>T (p.Lys120Ter) c.6658A>T (p.Lys2220Ter) | |
X | g.154860569T>C | CA414904576 | F8 | c.6763A>G (p.Lys2255Glu) c.496A>G (p.Lys166Glu) c.358A>G (p.Lys120Glu) c.6658A>G (p.Lys2220Glu) | |
X | g.154860569T>G | CA414904586 | F8 | c.6763A>C (p.Lys2255Gln) c.496A>C (p.Lys166Gln) c.358A>C (p.Lys120Gln) c.6658A>C (p.Lys2220Gln) | |
X | g.154860570C>A | CA414904596 | F8 | c.6762G>T (p.Gln2254His) c.495G>T (p.Gln165His) c.357G>T (p.Gln119His) c.6657G>T (p.Gln2219His) | |
X | g.154860570C>G | CA414904600 | F8 | c.6762G>C (p.Gln2254His) c.495G>C (p.Gln165His) c.357G>C (p.Gln119His) c.6657G>C (p.Gln2219His) | |
X | g.154860570C>T | CA519356265 | F8 | c.6762G>A (p.Gln2254=) c.495G>A (p.Gln165=) c.357G>A (p.Gln119=) c.6657G>A (p.Gln2219=) | gnomAD v4 |
X | g.154860571T>A | CA414904605 | F8 | c.6761A>T (p.Gln2254Leu) c.494A>T (p.Gln165Leu) c.356A>T (p.Gln119Leu) c.6656A>T (p.Gln2219Leu) | |
X | g.154860571T>C | CA414904606 | F8 | c.6761A>G (p.Gln2254Arg) c.494A>G (p.Gln165Arg) c.356A>G (p.Gln119Arg) c.6656A>G (p.Gln2219Arg) | |
X | g.154860571T>G | CA414904609 | F8 | c.6761A>C (p.Gln2254Pro) c.494A>C (p.Gln165Pro) c.356A>C (p.Gln119Pro) c.6656A>C (p.Gln2219Pro) | |
X | g.154860572G>A | CA414904613 | F8 | c.6760C>T (p.Gln2254Ter) c.493C>T (p.Gln165Ter) c.355C>T (p.Gln119Ter) c.6655C>T (p.Gln2219Ter) | |
X | g.154860572G>C | CA414904619 | F8 | c.6760C>G (p.Gln2254Glu) c.493C>G (p.Gln165Glu) c.355C>G (p.Gln119Glu) c.6655C>G (p.Gln2219Glu) | |
X | g.154860572G>T | CA414904625 | F8 | c.6760C>A (p.Gln2254Lys) c.493C>A (p.Gln165Lys) c.355C>A (p.Gln119Lys) c.6655C>A (p.Gln2219Lys) | |
X | g.154860573del | CA2695237138 | F8 | c.6760del (p.Gln2254ArgfsTer4) c.493del (p.Gln165ArgfsTer4) c.355del (p.Gln119ArgfsTer4) c.6655del (p.Gln2219ArgfsTer4) | |
X | g.154860573G>A | CA519356266 | F8 | c.6759C>T (p.Phe2253=) c.492C>T (p.Phe164=) c.354C>T (p.Phe118=) c.6654C>T (p.Phe2218=) | dbSNP |
X | g.154860573G>C | CA414904628 | F8 | c.6759C>G (p.Phe2253Leu) c.492C>G (p.Phe164Leu) c.354C>G (p.Phe118Leu) c.6654C>G (p.Phe2218Leu) | |
X | g.154860573G= | CA2466815022 | F8 | c.6759C= (p.Phe2253=) c.492C= (p.Phe164=) c.354C= (p.Phe118=) c.6654C= (p.Phe2218=) | |
X | g.154860573G>T | CA414904630 | F8 | c.6759C>A (p.Phe2253Leu) c.492C>A (p.Phe164Leu) c.354C>A (p.Phe118Leu) c.6654C>A (p.Phe2218Leu) | |
X | g.154860574A>C | CA414904636 | F8 | c.6758T>G (p.Phe2253Cys) c.491T>G (p.Phe164Cys) c.353T>G (p.Phe118Cys) c.6653T>G (p.Phe2218Cys) | |
X | g.154860574A>G | CA414904642 | F8 | c.6758T>C (p.Phe2253Ser) c.491T>C (p.Phe164Ser) c.353T>C (p.Phe118Ser) c.6653T>C (p.Phe2218Ser) | |
X | g.154860574A>T | CA414904646 | F8 | c.6758T>A (p.Phe2253Tyr) c.491T>A (p.Phe164Tyr) c.353T>A (p.Phe118Tyr) c.6653T>A (p.Phe2218Tyr) | |
X | g.154860575A>C | CA414904652 | F8 | c.6757T>G (p.Phe2253Val) c.490T>G (p.Phe164Val) c.352T>G (p.Phe118Val) c.6652T>G (p.Phe2218Val) | |
X | g.154860575A>G | CA414904654 | F8 | c.6757T>C (p.Phe2253Leu) c.490T>C (p.Phe164Leu) c.352T>C (p.Phe118Leu) c.6652T>C (p.Phe2218Leu) | |
X | g.154860575A>T | CA414904658 | F8 | c.6757T>A (p.Phe2253Ile) c.490T>A (p.Phe164Ile) c.352T>A (p.Phe118Ile) c.6652T>A (p.Phe2218Ile) | |
X | g.154860576G>A | CA519356267 | F8 | c.6756C>T (p.Asp2252=) c.489C>T (p.Asp163=) c.351C>T (p.Asp117=) c.6651C>T (p.Asp2217=) | |
X | g.154860576G>C | CA414904662 | F8 | c.6756C>G (p.Asp2252Glu) c.489C>G (p.Asp163Glu) c.351C>G (p.Asp117Glu) c.6651C>G (p.Asp2217Glu) | |
X | g.154860576G>T | CA414904663 | F8 | c.6756C>A (p.Asp2252Glu) c.489C>A (p.Asp163Glu) c.351C>A (p.Asp117Glu) c.6651C>A (p.Asp2217Glu) | |
X | g.154860577T>A | CA414904667 | F8 | c.6755A>T (p.Asp2252Val) c.488A>T (p.Asp163Val) c.350A>T (p.Asp117Val) c.6650A>T (p.Asp2217Val) | |
X | g.154860577T>C | CA414904670 | F8 | c.6755A>G (p.Asp2252Gly) c.488A>G (p.Asp163Gly) c.350A>G (p.Asp117Gly) c.6650A>G (p.Asp2217Gly) | |
X | g.154860577T>G | CA414904672 | F8 | c.6755A>C (p.Asp2252Ala) c.488A>C (p.Asp163Ala) c.350A>C (p.Asp117Ala) c.6650A>C (p.Asp2217Ala) | |
X | g.154860578C>A | CA414904680 | F8 | c.6754G>T (p.Asp2252Tyr) c.487G>T (p.Asp163Tyr) c.349G>T (p.Asp117Tyr) c.6649G>T (p.Asp2217Tyr) | |
X | g.154860578C= | CA2466815023 | F8 | c.6754G= (p.Asp2252=) c.487G= (p.Asp163=) c.349G= (p.Asp117=) c.6649G= (p.Asp2217=) | |
X | g.154860578C>G | CA414904678 | F8 | c.6754G>C (p.Asp2252His) c.487G>C (p.Asp163His) c.349G>C (p.Asp117His) c.6649G>C (p.Asp2217His) | ClinVar dbSNP |
X | g.154860578C>T | CA414904675 | F8 | c.6754G>A (p.Asp2252Asn) c.487G>A (p.Asp163Asn) c.349G>A (p.Asp117Asn) c.6649G>A (p.Asp2217Asn) | |
X | g.154860579C>A | CA519356268 | F8 | c.6753G>T (p.Val2251=) c.486G>T (p.Val162=) c.348G>T (p.Val116=) c.6648G>T (p.Val2216=) | |
X | g.154860579C>G | CA519356269 | F8 | c.6753G>C (p.Val2251=) c.486G>C (p.Val162=) c.348G>C (p.Val116=) c.6648G>C (p.Val2216=) | |
X | g.154860579C>T | CA519356270 | F8 | c.6753G>A (p.Val2251=) c.486G>A (p.Val162=) c.348G>A (p.Val116=) c.6648G>A (p.Val2216=) | |
X | g.154860580A= | CA2466815024 | F8 | c.6752T= (p.Val2251=) c.485T= (p.Val162=) c.347T= (p.Val116=) c.6647T= (p.Val2216=) | |
X | g.154860580A>C | CA414904683 | F8 | c.6752T>G (p.Val2251Gly) c.485T>G (p.Val162Gly) c.347T>G (p.Val116Gly) c.6647T>G (p.Val2216Gly) | |
X | g.154860580A>G | CA10567758 | F8 | c.6752T>C (p.Val2251Ala) c.485T>C (p.Val162Ala) c.347T>C (p.Val116Ala) c.6647T>C (p.Val2216Ala) | dbSNP ExAC |
X | g.154860580A>T | CA414904689 | F8 | c.6752T>A (p.Val2251Glu) c.485T>A (p.Val162Glu) c.347T>A (p.Val116Glu) c.6647T>A (p.Val2216Glu) | dbSNP |
X | g.154860581C>A | CA414904693 | F8 | c.6751G>T (p.Val2251Leu) c.484G>T (p.Val162Leu) c.346G>T (p.Val116Leu) c.6646G>T (p.Val2216Leu) | |
X | g.154860581C= | CA2466815025 | F8 | c.6751G= (p.Val2251=) c.484G= (p.Val162=) c.346G= (p.Val116=) c.6646G= (p.Val2216=) | |
X | g.154860581C>G | CA414904701 | F8 | c.6751G>C (p.Val2251Leu) c.484G>C (p.Val162Leu) c.346G>C (p.Val116Leu) c.6646G>C (p.Val2216Leu) | |
X | g.154860581C>T | CA414904704 | F8 | c.6751G>A (p.Val2251Met) c.484G>A (p.Val162Met) c.346G>A (p.Val116Met) c.6646G>A (p.Val2216Met) | ClinVar dbSNP |
X | g.154860582T>A | CA414904709 | F8 | c.6750A>T (p.Gln2250His) c.483A>T (p.Gln161His) c.345A>T (p.Gln115His) c.6645A>T (p.Gln2215His) | |
X | g.154860582T>C | CA519356271 | F8 | c.6750A>G (p.Gln2250=) c.483A>G (p.Gln161=) c.345A>G (p.Gln115=) c.6645A>G (p.Gln2215=) | gnomAD v4 |
X | g.154860582T>G | CA414904711 | F8 | c.6750A>C (p.Gln2250His) c.483A>C (p.Gln161His) c.345A>C (p.Gln115His) c.6645A>C (p.Gln2215His) | |
X | g.154860583T>A | CA414904715 | F8 | c.6749A>T (p.Gln2250Leu) c.482A>T (p.Gln161Leu) c.344A>T (p.Gln115Leu) c.6644A>T (p.Gln2215Leu) | |
X | g.154860583T>C | CA414904718 | F8 | c.6749A>G (p.Gln2250Arg) c.482A>G (p.Gln161Arg) c.344A>G (p.Gln115Arg) c.6644A>G (p.Gln2215Arg) | |
X | g.154860583T>G | CA414904721 | F8 | c.6749A>C (p.Gln2250Pro) c.482A>C (p.Gln161Pro) c.344A>C (p.Gln115Pro) c.6644A>C (p.Gln2215Pro) | |
X | g.154860584G>A | CA414904723 | F8 | c.6748C>T (p.Gln2250Ter) c.481C>T (p.Gln161Ter) c.343C>T (p.Gln115Ter) c.6643C>T (p.Gln2215Ter) | |
X | g.154860584G>C | CA10567759 | F8 | c.6748C>G (p.Gln2250Glu) c.481C>G (p.Gln161Glu) c.343C>G (p.Gln115Glu) c.6643C>G (p.Gln2215Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154860584G= | CA2466815026 | F8 | c.6748C= (p.Gln2250=) c.481C= (p.Gln161=) c.343C= (p.Gln115=) c.6643C= (p.Gln2215=) | |
X | g.154860584G>T | CA414904726 | F8 | c.6748C>A (p.Gln2250Lys) c.481C>A (p.Gln161Lys) c.343C>A (p.Gln115Lys) c.6643C>A (p.Gln2215Lys) | |
X | g.154860585del | CA2739290593 | F8 | c.6747del (p.Gln2250LysfsTer8) c.480del (p.Gln161LysfsTer8) c.342del (p.Gln115LysfsTer8) c.6642del (p.Gln2215LysfsTer8) | |
X | g.154860585C>A | CA519356274 | F8 | c.6747G>T (p.Leu2249=) c.480G>T (p.Leu160=) c.342G>T (p.Leu114=) c.6642G>T (p.Leu2214=) | |
X | g.154860585C= | CA2466815027 | F8 | c.6747G= (p.Leu2249=) c.480G= (p.Leu160=) c.342G= (p.Leu114=) c.6642G= (p.Leu2214=) | |
X | g.154860585C>G | CA519356273 | F8 | c.6747G>C (p.Leu2249=) c.480G>C (p.Leu160=) c.342G>C (p.Leu114=) c.6642G>C (p.Leu2214=) | |
X | g.154860585C>T | CA519356272 | F8 | c.6747G>A (p.Leu2249=) c.480G>A (p.Leu160=) c.342G>A (p.Leu114=) c.6642G>A (p.Leu2214=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154860586A>C | CA414904730 | F8 | c.6746T>G (p.Leu2249Arg) c.479T>G (p.Leu160Arg) c.341T>G (p.Leu114Arg) c.6641T>G (p.Leu2214Arg) | |
X | g.154860586A>G | CA414904733 | F8 | c.6746T>C (p.Leu2249Pro) c.479T>C (p.Leu160Pro) c.341T>C (p.Leu114Pro) c.6641T>C (p.Leu2214Pro) | |
X | g.154860586A>T | CA414904731 | F8 | c.6746T>A (p.Leu2249Gln) c.479T>A (p.Leu160Gln) c.341T>A (p.Leu114Gln) c.6641T>A (p.Leu2214Gln) | |
X | g.154860586dup | CA2695237139 | F8 | c.6746dup (p.Gln2250AlafsTer?) c.479dup (p.Gln161AlafsTer?) c.341dup (p.Gln115AlafsTer?) c.6641dup (p.Gln2215AlafsTer?) | |
X | g.154860587G>A | CA519356275 | F8 | c.6745C>T (p.Leu2249=) c.478C>T (p.Leu160=) c.340C>T (p.Leu114=) c.6640C>T (p.Leu2214=) | |
X | g.154860587G>C | CA414904735 | F8 | c.6745C>G (p.Leu2249Val) c.478C>G (p.Leu160Val) c.340C>G (p.Leu114Val) c.6640C>G (p.Leu2214Val) | |
X | g.154860587G>T | CA414904737 | F8 | c.6745C>A (p.Leu2249Met) c.478C>A (p.Leu160Met) c.340C>A (p.Leu114Met) c.6640C>A (p.Leu2214Met) | |
X | g.154860588C>A | CA255218 | F8 | c.6744G>T (p.Trp2248Cys) c.477G>T (p.Trp159Cys) c.339G>T (p.Trp113Cys) c.6639G>T (p.Trp2213Cys) | ClinVar dbSNP gnomAD v4 |
X | g.154860588C= | CA2466815028 | F8 | c.6744G= (p.Trp2248=) c.477G= (p.Trp159=) c.339G= (p.Trp113=) c.6639G= (p.Trp2213=) | |
X | g.154860588C>G | CA414904744 | F8 | c.6744G>C (p.Trp2248Cys) c.477G>C (p.Trp159Cys) c.339G>C (p.Trp113Cys) c.6639G>C (p.Trp2213Cys) | |
X | g.154860588C>T | CA414904746 | F8 | c.6744G>A (p.Trp2248Ter) c.477G>A (p.Trp159Ter) c.339G>A (p.Trp113Ter) c.6639G>A (p.Trp2213Ter) | |
X | g.154860589C>A | CA414904747 | F8 | c.6743G>T (p.Trp2248Leu) c.476G>T (p.Trp159Leu) c.338G>T (p.Trp113Leu) c.6638G>T (p.Trp2213Leu) | COSMIC COSMIC |
X | g.154860589C= | CA2466815029 | F8 | c.6743G= (p.Trp2248=) c.476G= (p.Trp159=) c.338G= (p.Trp113=) c.6638G= (p.Trp2213=) | |
X | g.154860589C>G | CA414904748 | F8 | c.6743G>C (p.Trp2248Ser) c.476G>C (p.Trp159Ser) c.338G>C (p.Trp113Ser) c.6638G>C (p.Trp2213Ser) | |
X | g.154860589C>T | CA414904750 | F8 | c.6743G>A (p.Trp2248Ter) c.476G>A (p.Trp159Ter) c.338G>A (p.Trp113Ter) c.6638G>A (p.Trp2213Ter) | dbSNP |
X | g.154860590A= | CA2466815030 | F8 | c.6742T= (p.Trp2248=) c.475T= (p.Trp159=) c.337T= (p.Trp113=) c.6637T= (p.Trp2213=) | |
X | g.154860590A>C | CA414904768 | F8 | c.6742T>G (p.Trp2248Gly) c.475T>G (p.Trp159Gly) c.337T>G (p.Trp113Gly) c.6637T>G (p.Trp2213Gly) | ClinVar |
X | g.154860590A>G | CA414904765 | F8 | c.6742T>C (p.Trp2248Arg) c.475T>C (p.Trp159Arg) c.337T>C (p.Trp113Arg) c.6637T>C (p.Trp2213Arg) | |
X | g.154860590A>T | CA414904758 | F8 | c.6742T>A (p.Trp2248Arg) c.475T>A (p.Trp159Arg) c.337T>A (p.Trp113Arg) c.6637T>A (p.Trp2213Arg) | dbSNP |
X | g.154860590dup | CA873368512 | F8 | c.6742dup (p.Trp2248LeufsTer?) c.475dup (p.Trp159LeufsTer?) c.337dup (p.Trp113LeufsTer?) c.6637dup (p.Trp2213LeufsTer?) | dbSNP |
X | g.154860591C>A | CA414904771 | F8 | c.6741G>T (p.Glu2247Asp) c.474G>T (p.Glu158Asp) c.336G>T (p.Glu112Asp) c.6636G>T (p.Glu2212Asp) | |
X | g.154860591C= | CA2466815031 | F8 | c.6741G= (p.Glu2247=) c.474G= (p.Glu158=) c.336G= (p.Glu112=) c.6636G= (p.Glu2212=) | |
X | g.154860591C>G | CA414904774 | F8 | c.6741G>C (p.Glu2247Asp) c.474G>C (p.Glu158Asp) c.336G>C (p.Glu112Asp) c.6636G>C (p.Glu2212Asp) | |
X | g.154860591C>T | CA519356276 | F8 | c.6741G>A (p.Glu2247=) c.474G>A (p.Glu158=) c.336G>A (p.Glu112=) c.6636G>A (p.Glu2212=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154860593_154860594del | CA2695237140 | F8 | c.6740_6741del (p.Glu2247ValfsTer?) c.473_474del (p.Glu158ValfsTer?) c.335_336del (p.Glu112ValfsTer?) c.6635_6636del (p.Glu2212ValfsTer?) | |
X | g.154860592T>A | CA414904779 | F8 | c.6740A>T (p.Glu2247Val) c.473A>T (p.Glu158Val) c.335A>T (p.Glu112Val) c.6635A>T (p.Glu2212Val) | |
X | g.154860592T>C | CA414904781 | F8 | c.6740A>G (p.Glu2247Gly) c.473A>G (p.Glu158Gly) c.335A>G (p.Glu112Gly) c.6635A>G (p.Glu2212Gly) | |
X | g.154860592T>G | CA414904783 | F8 | c.6740A>C (p.Glu2247Ala) c.473A>C (p.Glu158Ala) c.335A>C (p.Glu112Ala) c.6635A>C (p.Glu2212Ala) | |
X | g.154860593C>A | CA414904791 | F8 | c.6739G>T (p.Glu2247Ter) c.472G>T (p.Glu158Ter) c.334G>T (p.Glu112Ter) c.6634G>T (p.Glu2212Ter) | |
X | g.154860593C>G | CA414904793 | F8 | c.6739G>C (p.Glu2247Gln) c.472G>C (p.Glu158Gln) c.334G>C (p.Glu112Gln) c.6634G>C (p.Glu2212Gln) | |
X | g.154860593C>T | CA414904796 | F8 | c.6739G>A (p.Glu2247Lys) c.472G>A (p.Glu158Lys) c.334G>A (p.Glu112Lys) c.6634G>A (p.Glu2212Lys) | |
X | g.154860594T>A | CA414904800 | F8 | c.6738A>T (p.Lys2246Asn) c.471A>T (p.Lys157Asn) c.333A>T (p.Lys111Asn) c.6633A>T (p.Lys2211Asn) | |
X | g.154860594T>C | CA519356277 | F8 | c.6738A>G (p.Lys2246=) c.471A>G (p.Lys157=) c.333A>G (p.Lys111=) c.6633A>G (p.Lys2211=) | |
X | g.154860594T>G | CA414904802 | F8 | c.6738A>C (p.Lys2246Asn) c.471A>C (p.Lys157Asn) c.333A>C (p.Lys111Asn) c.6633A>C (p.Lys2211Asn) | |
X | g.154860597del | CA2695237141 | F8 | c.6738del (p.Glu2247SerfsTer11) c.471del (p.Glu158SerfsTer11) c.333del (p.Glu112SerfsTer11) c.6633del (p.Glu2212SerfsTer11) | |
X | g.154860596_154860597del | CA2695237142 | F8 | c.6737_6738del (p.Lys2246ArgfsTer?) c.470_471del (p.Lys157ArgfsTer?) c.332_333del (p.Lys111ArgfsTer?) c.6632_6633del (p.Lys2211ArgfsTer?) | |
X | g.154860595T>A | CA414904813 | F8 | c.6737A>T (p.Lys2246Ile) c.470A>T (p.Lys157Ile) c.332A>T (p.Lys111Ile) c.6632A>T (p.Lys2211Ile) | |
X | g.154860595T>C | CA414904815 | F8 | c.6737A>G (p.Lys2246Arg) c.470A>G (p.Lys157Arg) c.332A>G (p.Lys111Arg) c.6632A>G (p.Lys2211Arg) | |
X | g.154860595T>G | CA414904806 | F8 | c.6737A>C (p.Lys2246Thr) c.470A>C (p.Lys157Thr) c.332A>C (p.Lys111Thr) c.6632A>C (p.Lys2211Thr) | |
X | g.154860596T>A | CA414904819 | F8 | c.6736A>T (p.Lys2246Ter) c.469A>T (p.Lys157Ter) c.331A>T (p.Lys111Ter) c.6631A>T (p.Lys2211Ter) | dbSNP |
X | g.154860596T>C | CA414904820 | F8 | c.6736A>G (p.Lys2246Glu) c.469A>G (p.Lys157Glu) c.331A>G (p.Lys111Glu) c.6631A>G (p.Lys2211Glu) | |
X | g.154860596T>G | CA414904822 | F8 | c.6736A>C (p.Lys2246Gln) c.469A>C (p.Lys157Gln) c.331A>C (p.Lys111Gln) c.6631A>C (p.Lys2211Gln) | |
X | g.154860596T= | CA2466815032 | F8 | c.6736A= (p.Lys2246=) c.469A= (p.Lys157=) c.331A= (p.Lys111=) c.6631A= (p.Lys2211=) | |
X | g.154860597T>A | CA519356278 | F8 | c.6735A>T (p.Pro2245=) c.468A>T (p.Pro156=) c.330A>T (p.Pro110=) c.6630A>T (p.Pro2210=) | |
X | g.154860597T>C | CA519356279 | F8 | c.6735A>G (p.Pro2245=) c.468A>G (p.Pro156=) c.330A>G (p.Pro110=) c.6630A>G (p.Pro2210=) | |
X | g.154860597T>G | CA519356280 | F8 | c.6735A>C (p.Pro2245=) c.468A>C (p.Pro156=) c.330A>C (p.Pro110=) c.6630A>C (p.Pro2210=) | |
X | g.154860598G>A | CA414904826 | F8 | c.6734C>T (p.Pro2245Leu) c.467C>T (p.Pro156Leu) c.329C>T (p.Pro110Leu) c.6629C>T (p.Pro2210Leu) | |
X | g.154860598G>C | CA414904829 | F8 | c.6734C>G (p.Pro2245Arg) c.467C>G (p.Pro156Arg) c.329C>G (p.Pro110Arg) c.6629C>G (p.Pro2210Arg) | |
X | g.154860598G>T | CA414904832 | F8 | c.6734C>A (p.Pro2245Gln) c.467C>A (p.Pro156Gln) c.329C>A (p.Pro110Gln) c.6629C>A (p.Pro2210Gln) | |
X | g.154860599G>A | CA414904834 | F8 | c.6733C>T (p.Pro2245Ser) c.466C>T (p.Pro156Ser) c.328C>T (p.Pro110Ser) c.6628C>T (p.Pro2210Ser) | |
X | g.154860599G>C | CA414904837 | F8 | c.6733C>G (p.Pro2245Ala) c.466C>G (p.Pro156Ala) c.328C>G (p.Pro110Ala) c.6628C>G (p.Pro2210Ala) | |
X | g.154860599G>T | CA414904840 | F8 | c.6733C>A (p.Pro2245Thr) c.466C>A (p.Pro156Thr) c.328C>A (p.Pro110Thr) c.6628C>A (p.Pro2210Thr) | |
X | g.154860600A>C | CA414904844 | F8 | c.6732T>G (p.Asn2244Lys) c.465T>G (p.Asn155Lys) c.327T>G (p.Asn109Lys) c.6627T>G (p.Asn2209Lys) | |
X | g.154860600A>G | CA519356281 | F8 | c.6732T>C (p.Asn2244=) c.465T>C (p.Asn155=) c.327T>C (p.Asn109=) c.6627T>C (p.Asn2209=) | |
X | g.154860600A>T | CA414904846 | F8 | c.6732T>A (p.Asn2244Lys) c.465T>A (p.Asn155Lys) c.327T>A (p.Asn109Lys) c.6627T>A (p.Asn2209Lys) | |
X | g.154860601T>A | CA414904854 | F8 | c.6731A>T (p.Asn2244Ile) c.464A>T (p.Asn155Ile) c.326A>T (p.Asn109Ile) c.6626A>T (p.Asn2209Ile) | |
X | g.154860601T>C | CA414904848 | F8 | c.6731A>G (p.Asn2244Ser) c.464A>G (p.Asn155Ser) c.326A>G (p.Asn109Ser) c.6626A>G (p.Asn2209Ser) | |
X | g.154860601T>G | CA414904851 | F8 | c.6731A>C (p.Asn2244Thr) c.464A>C (p.Asn155Thr) c.326A>C (p.Asn109Thr) c.6626A>C (p.Asn2209Thr) | |
X | g.154860602T>A | CA414904859 | F8 | c.6730A>T (p.Asn2244Tyr) c.463A>T (p.Asn155Tyr) c.325A>T (p.Asn109Tyr) c.6625A>T (p.Asn2209Tyr) | |
X | g.154860602T>C | CA414904862 | F8 | c.6730A>G (p.Asn2244Asp) c.463A>G (p.Asn155Asp) c.325A>G (p.Asn109Asp) c.6625A>G (p.Asn2209Asp) | |
X | g.154860602T>G | CA414904865 | F8 | c.6730A>C (p.Asn2244His) c.463A>C (p.Asn155His) c.325A>C (p.Asn109His) c.6625A>C (p.Asn2209His) | |
X | g.154860603A>C | CA414904868 | F8 | c.6729T>G (p.Asn2243Lys) c.462T>G (p.Asn154Lys) c.324T>G (p.Asn108Lys) c.6624T>G (p.Asn2208Lys) | |
X | g.154860603A>G | CA519356282 | F8 | c.6729T>C (p.Asn2243=) c.462T>C (p.Asn154=) c.324T>C (p.Asn108=) c.6624T>C (p.Asn2208=) | |
X | g.154860603A>T | CA414904871 | F8 | c.6729T>A (p.Asn2243Lys) c.462T>A (p.Asn154Lys) c.324T>A (p.Asn108Lys) c.6624T>A (p.Asn2208Lys) | |
X | g.154860604T>A | CA414904877 | F8 | c.6728A>T (p.Asn2243Ile) c.461A>T (p.Asn154Ile) c.323A>T (p.Asn108Ile) c.6623A>T (p.Asn2208Ile) | |
X | g.154860604T>C | CA337326045 | F8 | c.6728A>G (p.Asn2243Ser) c.461A>G (p.Asn154Ser) c.323A>G (p.Asn108Ser) c.6623A>G (p.Asn2208Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154860604T>G | CA414904879 | F8 | c.6728A>C (p.Asn2243Thr) c.461A>C (p.Asn154Thr) c.323A>C (p.Asn108Thr) c.6623A>C (p.Asn2208Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154860604T= | CA2466815033 | F8 | c.6728A= (p.Asn2243=) c.461A= (p.Asn154=) c.323A= (p.Asn108=) c.6623A= (p.Asn2208=) | |
X | g.154860605T>A | CA414904882 | F8 | c.6727A>T (p.Asn2243Tyr) c.460A>T (p.Asn154Tyr) c.322A>T (p.Asn108Tyr) c.6622A>T (p.Asn2208Tyr) | |
X | g.154860605T>C | CA414904884 | F8 | c.6727A>G (p.Asn2243Asp) c.460A>G (p.Asn154Asp) c.322A>G (p.Asn108Asp) c.6622A>G (p.Asn2208Asp) | |
X | g.154860605T>G | CA414904886 | F8 | c.6727A>C (p.Asn2243His) c.460A>C (p.Asn154His) c.322A>C (p.Asn108His) c.6622A>C (p.Asn2208His) | |
X | g.154860606C>A | CA519356283 | F8 | c.6726G>T (p.Val2242=) c.459G>T (p.Val153=) c.321G>T (p.Val107=) c.6621G>T (p.Val2207=) | COSMIC COSMIC |
X | g.154860606C= | CA2466815034 | F8 | c.6726G= (p.Val2242=) c.459G= (p.Val153=) c.321G= (p.Val107=) c.6621G= (p.Val2207=) | |
X | g.154860606C>G | CA519356284 | F8 | c.6726G>C (p.Val2242=) c.459G>C (p.Val153=) c.321G>C (p.Val107=) c.6621G>C (p.Val2207=) | |
X | g.154860606C>T | CA10567760 | F8 | c.6726G>A (p.Val2242=) c.459G>A (p.Val153=) c.321G>A (p.Val107=) c.6621G>A (p.Val2207=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154860607A>C | CA414904895 | F8 | c.6725T>G (p.Val2242Gly) c.458T>G (p.Val153Gly) c.320T>G (p.Val107Gly) c.6620T>G (p.Val2207Gly) | |
X | g.154860607A>G | CA414904897 | F8 | c.6725T>C (p.Val2242Ala) c.458T>C (p.Val153Ala) c.320T>C (p.Val107Ala) c.6620T>C (p.Val2207Ala) | |
X | g.154860607A>T | CA414904891 | F8 | c.6725T>A (p.Val2242Glu) c.458T>A (p.Val153Glu) c.320T>A (p.Val107Glu) c.6620T>A (p.Val2207Glu) | |
X | g.154860608C>A | CA414904907 | F8 | c.6724G>T (p.Val2242Leu) c.457G>T (p.Val153Leu) c.319G>T (p.Val107Leu) c.6619G>T (p.Val2207Leu) | |
X | g.154860608C= | CA2466815035 | F8 | c.6724G= (p.Val2242=) c.457G= (p.Val153=) c.319G= (p.Val107=) c.6619G= (p.Val2207=) | |
X | g.154860608C>G | CA414904906 | F8 | c.6724G>C (p.Val2242Leu) c.457G>C (p.Val153Leu) c.319G>C (p.Val107Leu) c.6619G>C (p.Val2207Leu) | |
X | g.154860608C>T | CA10567761 | F8 | c.6724G>A (p.Val2242Met) c.457G>A (p.Val153Met) c.319G>A (p.Val107Met) c.6619G>A (p.Val2207Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154860609C>A | CA414904910 | F8 | c.6724-1G>T (n.6724-1G>T) c.457-1G>T (n.457-1G>T) c.319-1G>T (n.319-1G>T) c.6619-1G>T (n.6619-1G>T) | |
X | g.154860609C>G | CA414904912 | F8 | c.6724-1G>C (n.6724-1G>C) c.457-1G>C (n.457-1G>C) c.319-1G>C (n.319-1G>C) c.6619-1G>C (n.6619-1G>C) | |
X | g.154860609C>T | CA414904915 | F8 | c.6724-1G>A (n.6724-1G>A) c.457-1G>A (n.457-1G>A) c.319-1G>A (n.319-1G>A) c.6619-1G>A (n.6619-1G>A) | |
X | g.154860610T>A | CA414904918 | F8 | c.6724-2A>T (n.6724-2A>T) c.457-2A>T (n.457-2A>T) c.319-2A>T (n.319-2A>T) c.6619-2A>T (n.6619-2A>T) | |
X | g.154860610T>C | CA414904920 | F8 | c.6724-2A>G (n.6724-2A>G) c.457-2A>G (n.457-2A>G) c.319-2A>G (n.319-2A>G) c.6619-2A>G (n.6619-2A>G) | dbSNP |
X | g.154860610T>G | CA414904924 | F8 | c.6724-2A>C (n.6724-2A>C) c.457-2A>C (n.457-2A>C) c.319-2A>C (n.319-2A>C) c.6619-2A>C (n.6619-2A>C) | |
X | g.154860610T= | CA2466815036 | F8 | c.6724-2A= (n.6724-2A=) c.457-2A= (n.457-2A=) c.319-2A= (n.319-2A=) c.6619-2A= (n.6619-2A=) | |
X | g.154860611G>A | CA2466815038 | F8 | c.6724-3C>T (n.6724-3C>T) c.457-3C>T (n.457-3C>T) c.319-3C>T (n.319-3C>T) c.6619-3C>T (n.6619-3C>T) | dbSNP |
X | g.154860611G= | CA2466815037 | F8 | c.6724-3C= (n.6724-3C=) c.457-3C= (n.457-3C=) c.319-3C= (n.319-3C=) c.6619-3C= (n.6619-3C=) | |
X | g.154860614G>A | CA2579752220 | F8 | c.6724-6C>T (n.6724-6C>T) c.457-6C>T (n.457-6C>T) c.319-6C>T (n.319-6C>T) c.6619-6C>T (n.6619-6C>T) | |
X | g.154860616C>A | CA10567762 | F8 | c.6724-8G>T (n.6724-8G>T) c.457-8G>T (n.457-8G>T) c.319-8G>T (n.319-8G>T) c.6619-8G>T (n.6619-8G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154860616C= | CA2466815039 | F8 | c.6724-8G= (n.6724-8G=) c.457-8G= (n.457-8G=) c.319-8G= (n.319-8G=) c.6619-8G= (n.6619-8G=) | |
X | g.154860618A>G | CA2695167720 | F8 | c.6724-10T>C (n.6724-10T>C) c.457-10T>C (n.457-10T>C) c.319-10T>C (n.319-10T>C) c.6619-10T>C (n.6619-10T>C) | gnomAD v4 |
X | g.154860619T>A | CA645238470 | F8 | c.6724-11A>T (n.6724-11A>T) c.457-11A>T (n.457-11A>T) c.319-11A>T (n.319-11A>T) c.6619-11A>T (n.6619-11A>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154860619T>C | CA2695167721 | F8 | c.6724-11A>G (n.6724-11A>G) c.457-11A>G (n.457-11A>G) c.319-11A>G (n.319-11A>G) c.6619-11A>G (n.6619-11A>G) | gnomAD v4 |
X | g.154860619T= | CA2466815040 | F8 | c.6724-11A= (n.6724-11A=) c.457-11A= (n.457-11A=) c.319-11A= (n.319-11A=) c.6619-11A= (n.6619-11A=) | |
X | g.154860620A>C | CA2579752221 | F8 | c.6724-12T>G (n.6724-12T>G) c.457-12T>G (n.457-12T>G) c.319-12T>G (n.319-12T>G) c.6619-12T>G (n.6619-12T>G) | gnomAD v4 |
X | g.154860621G>C | CA1138598231 | F8 | c.6724-13C>G (n.6724-13C>G) c.457-13C>G (n.457-13C>G) c.319-13C>G (n.319-13C>G) c.6619-13C>G (n.6619-13C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154860621G= | CA2466815041 | F8 | c.6724-13C= (n.6724-13C=) c.457-13C= (n.457-13C=) c.319-13C= (n.319-13C=) c.6619-13C= (n.6619-13C=) | |
X | g.154860622A= | CA2466815042 | F8 | c.6724-14T= (n.6724-14T=) c.457-14T= (n.457-14T=) c.319-14T= (n.319-14T=) c.6619-14T= (n.6619-14T=) | |
X | g.154860622A>C | CA645238472 | F8 | c.6724-14T>G (n.6724-14T>G) c.457-14T>G (n.457-14T>G) c.319-14T>G (n.319-14T>G) c.6619-14T>G (n.6619-14T>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154860623G>A | CA2466815044 | F8 | c.6724-15C>T (n.6724-15C>T) c.457-15C>T (n.457-15C>T) c.319-15C>T (n.319-15C>T) c.6619-15C>T (n.6619-15C>T) | dbSNP gnomAD v4 |
X | g.154860623G= | CA2466815043 | F8 | c.6724-15C= (n.6724-15C=) c.457-15C= (n.457-15C=) c.319-15C= (n.319-15C=) c.6619-15C= (n.6619-15C=) | |
X | g.154860624T>G | CA2824313403 | F8 | c.6724-16A>C (n.6724-16A>C) c.457-16A>C (n.457-16A>C) c.319-16A>C (n.319-16A>C) c.6619-16A>C (n.6619-16A>C) | |
X | g.154860627G>T | CA2695167722 | F8 | c.6724-19C>A (n.6724-19C>A) c.457-19C>A (n.457-19C>A) c.319-19C>A (n.319-19C>A) c.6619-19C>A (n.6619-19C>A) | gnomAD v4 |
X | g.154860628A= | CA2466815045 | F8 | c.6724-20T= (n.6724-20T=) c.457-20T= (n.457-20T=) c.319-20T= (n.319-20T=) c.6619-20T= (n.6619-20T=) | |
X | g.154860628A>C | CA10567764 | F8 | c.6724-20T>G (n.6724-20T>G) c.457-20T>G (n.457-20T>G) c.319-20T>G (n.319-20T>G) c.6619-20T>G (n.6619-20T>G) | dbSNP ExAC gnomAD v2 |
X | g.154860628A>G | CA10567763 | F8 | c.6724-20T>C (n.6724-20T>C) c.457-20T>C (n.457-20T>C) c.319-20T>C (n.319-20T>C) c.6619-20T>C (n.6619-20T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154860630T>C | CA2579752222 | F8 | c.6724-22A>G (n.6724-22A>G) c.457-22A>G (n.457-22A>G) c.319-22A>G (n.319-22A>G) c.6619-22A>G (n.6619-22A>G) | |
X | g.154860632G>A | CA2695167723 | F8 | c.6724-24C>T (n.6724-24C>T) c.457-24C>T (n.457-24C>T) c.319-24C>T (n.319-24C>T) c.6619-24C>T (n.6619-24C>T) | gnomAD v4 |
X | g.154860632G= | CA2466815046 | F8 | c.6724-24C= (n.6724-24C=) c.457-24C= (n.457-24C=) c.319-24C= (n.319-24C=) c.6619-24C= (n.6619-24C=) | |
X | g.154860632G>T | CA645238476 | F8 | c.6724-24C>A (n.6724-24C>A) c.457-24C>A (n.457-24C>A) c.319-24C>A (n.319-24C>A) c.6619-24C>A (n.6619-24C>A) | dbSNP gnomAD v2 |
X | g.154860635G>C | CA2466815048 | F8 | c.6724-27C>G (n.6724-27C>G) c.457-27C>G (n.457-27C>G) c.319-27C>G (n.319-27C>G) c.6619-27C>G (n.6619-27C>G) | dbSNP |
X | g.154860635G= | CA2466815047 | F8 | c.6724-27C= (n.6724-27C=) c.457-27C= (n.457-27C=) c.319-27C= (n.319-27C=) c.6619-27C= (n.6619-27C=) | |
X | g.154860635G>T | CA2695167724 | F8 | c.6724-27C>A (n.6724-27C>A) c.457-27C>A (n.457-27C>A) c.319-27C>A (n.319-27C>A) c.6619-27C>A (n.6619-27C>A) | gnomAD v4 |
X | g.154860638T>C | CA2466815050 | F8 | c.6724-30A>G (n.6724-30A>G) c.457-30A>G (n.457-30A>G) c.319-30A>G (n.319-30A>G) c.6619-30A>G (n.6619-30A>G) | dbSNP gnomAD v4 |
X | g.154860638T= | CA2466815049 | F8 | c.6724-30A= (n.6724-30A=) c.457-30A= (n.457-30A=) c.319-30A= (n.319-30A=) c.6619-30A= (n.6619-30A=) | |
X | g.154860639C>T | CA2695167725 | F8 | c.6724-31G>A (n.6724-31G>A) c.457-31G>A (n.457-31G>A) c.319-31G>A (n.319-31G>A) c.6619-31G>A (n.6619-31G>A) | gnomAD v4 |