UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154863138_154863140dup | CA2695237168 | F8 | c.6517_6519dup (p.Thr2173_His2174insThr) c.250_252dup (p.Thr84_His85insThr) c.112_114dup (p.Thr38_His39insThr) c.6412_6414dup (p.Thr2138_His2139insThr) | |
| X | g.154863139G>A | CA255210 | F8 | c.6518C>T (p.Thr2173Ile) c.251C>T (p.Thr84Ile) c.113C>T (p.Thr38Ile) c.6413C>T (p.Thr2138Ile) | ClinVar dbSNP |
| X | g.154863139G>C | CA414907336 | F8 | c.6518C>G (p.Thr2173Ser) c.251C>G (p.Thr84Ser) c.113C>G (p.Thr38Ser) c.6413C>G (p.Thr2138Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154863139G= | CA2466815638 | F8 | c.6518C= (p.Thr2173=) c.251C= (p.Thr84=) c.113C= (p.Thr38=) c.6413C= (p.Thr2138=) | |
| X | g.154863139G>T | CA414907339 | F8 | c.6518C>A (p.Thr2173Asn) c.251C>A (p.Thr84Asn) c.113C>A (p.Thr38Asn) c.6413C>A (p.Thr2138Asn) | dbSNP |
| X | g.154863139_154863141delinsGTT | CA2466815640 | F8 | c.6516_6518delinsAAC (p.Pro2172=) c.249_251delinsAAC (p.Pro83=) c.111_113delinsAAC (p.Pro37=) c.6411_6413delinsAAC (p.Pro2137=) | |
| X | g.154863140T>A | CA414907345 | F8 | c.6517A>T (p.Thr2173Ser) c.250A>T (p.Thr84Ser) c.112A>T (p.Thr38Ser) c.6412A>T (p.Thr2138Ser) | |
| X | g.154863140T>C | CA414907348 | F8 | c.6517A>G (p.Thr2173Ala) c.250A>G (p.Thr84Ala) c.112A>G (p.Thr38Ala) c.6412A>G (p.Thr2138Ala) | |
| X | g.154863140T>G | CA414907350 | F8 | c.6517A>C (p.Thr2173Pro) c.250A>C (p.Thr84Pro) c.112A>C (p.Thr38Pro) c.6412A>C (p.Thr2138Pro) | |
| X | g.154863140_154863141del | CA873369465 | F8 | c.6516_6517del (p.Thr2173SerfsTer3) c.249_250del (p.Thr84SerfsTer3) c.111_112del (p.Thr38SerfsTer3) c.6411_6412del (p.Thr2138SerfsTer3) | dbSNP |
| X | g.154863141T>A | CA519357880 | F8 | c.6516A>T (p.Pro2172=) c.249A>T (p.Pro83=) c.111A>T (p.Pro37=) c.6411A>T (p.Pro2137=) | |
| X | g.154863141T>C | CA519357881 | F8 | c.6516A>G (p.Pro2172=) c.249A>G (p.Pro83=) c.111A>G (p.Pro37=) c.6411A>G (p.Pro2137=) | |
| X | g.154863141T>G | CA519357882 | F8 | c.6516A>C (p.Pro2172=) c.249A>C (p.Pro83=) c.111A>C (p.Pro37=) c.6411A>C (p.Pro2137=) | |
| X | g.154863142G>A | CA414907354 | F8 | c.6515C>T (p.Pro2172Leu) c.248C>T (p.Pro83Leu) c.110C>T (p.Pro37Leu) c.6410C>T (p.Pro2137Leu) | |
| X | g.154863142G>C | CA414907359 | F8 | c.6515C>G (p.Pro2172Arg) c.248C>G (p.Pro83Arg) c.110C>G (p.Pro37Arg) c.6410C>G (p.Pro2137Arg) | |
| X | g.154863142G= | CA2466815645 | F8 | c.6515C= (p.Pro2172=) c.248C= (p.Pro83=) c.110C= (p.Pro37=) c.6410C= (p.Pro2137=) | |
| X | g.154863142G>T | CA255209 | F8 | c.6515C>A (p.Pro2172Gln) c.248C>A (p.Pro83Gln) c.110C>A (p.Pro37Gln) c.6410C>A (p.Pro2137Gln) | ClinVar dbSNP |
| X | g.154863143G>A | CA414907368 | F8 | c.6514C>T (p.Pro2172Ser) c.247C>T (p.Pro83Ser) c.109C>T (p.Pro37Ser) c.6409C>T (p.Pro2137Ser) | |
| X | g.154863143G>C | CA414907369 | F8 | c.6514C>G (p.Pro2172Ala) c.247C>G (p.Pro83Ala) c.109C>G (p.Pro37Ala) c.6409C>G (p.Pro2137Ala) | |
| X | g.154863143G>T | CA414907370 | F8 | c.6514C>A (p.Pro2172Thr) c.247C>A (p.Pro83Thr) c.109C>A (p.Pro37Thr) c.6409C>A (p.Pro2137Thr) | gnomAD v4 |
| X | g.154863144G>A | CA519357885 | F8 | c.6513C>T (p.His2171=) c.246C>T (p.His82=) c.108C>T (p.His36=) c.6408C>T (p.His2136=) | |
| X | g.154863144G>C | CA414907372 | F8 | c.6513C>G (p.His2171Gln) c.246C>G (p.His82Gln) c.108C>G (p.His36Gln) c.6408C>G (p.His2136Gln) | |
| X | g.154863144G>T | CA414907382 | F8 | c.6513C>A (p.His2171Gln) c.246C>A (p.His82Gln) c.108C>A (p.His36Gln) c.6408C>A (p.His2136Gln) | |
| X | g.154863145T>A | CA414907391 | F8 | c.6512A>T (p.His2171Leu) c.245A>T (p.His82Leu) c.107A>T (p.His36Leu) c.6407A>T (p.His2136Leu) | |
| X | g.154863145T>C | CA414907392 | F8 | c.6512A>G (p.His2171Arg) c.245A>G (p.His82Arg) c.107A>G (p.His36Arg) c.6407A>G (p.His2136Arg) | |
| X | g.154863145T>G | CA414907393 | F8 | c.6512A>C (p.His2171Pro) c.245A>C (p.His82Pro) c.107A>C (p.His36Pro) c.6407A>C (p.His2136Pro) | |
| X | g.154863146G>A | CA414907396 | F8 | c.6511C>T (p.His2171Tyr) c.244C>T (p.His82Tyr) c.106C>T (p.His36Tyr) c.6406C>T (p.His2136Tyr) | dbSNP |
| X | g.154863146G>C | CA414907410 | F8 | c.6511C>G (p.His2171Asp) c.244C>G (p.His82Asp) c.106C>G (p.His36Asp) c.6406C>G (p.His2136Asp) | |
| X | g.154863146G= | CA2466815648 | F8 | c.6511C= (p.His2171=) c.244C= (p.His82=) c.106C= (p.His36=) c.6406C= (p.His2136=) | |
| X | g.154863146G>T | CA414907413 | F8 | c.6511C>A (p.His2171Asn) c.244C>A (p.His82Asn) c.106C>A (p.His36Asn) c.6406C>A (p.His2136Asn) | |
| X | g.154863147C>A | CA414907421 | F8 | c.6510G>T (p.Leu2170Phe) c.243G>T (p.Leu81Phe) c.105G>T (p.Leu35Phe) c.6405G>T (p.Leu2135Phe) | |
| X | g.154863147C>G | CA414907423 | F8 | c.6510G>C (p.Leu2170Phe) c.243G>C (p.Leu81Phe) c.105G>C (p.Leu35Phe) c.6405G>C (p.Leu2135Phe) | |
| X | g.154863147C>T | CA519357888 | F8 | c.6510G>A (p.Leu2170=) c.243G>A (p.Leu81=) c.105G>A (p.Leu35=) c.6405G>A (p.Leu2135=) | COSMIC COSMIC |
| X | g.154863148A>C | CA414907428 | F8 | c.6509T>G (p.Leu2170Trp) c.242T>G (p.Leu81Trp) c.104T>G (p.Leu35Trp) c.6404T>G (p.Leu2135Trp) | |
| X | g.154863148A>G | CA414907432 | F8 | c.6509T>C (p.Leu2170Ser) c.242T>C (p.Leu81Ser) c.104T>C (p.Leu35Ser) c.6404T>C (p.Leu2135Ser) | |
| X | g.154863148A>T | CA414907444 | F8 | c.6509T>A (p.Leu2170Ter) c.242T>A (p.Leu81Ter) c.104T>A (p.Leu35Ter) c.6404T>A (p.Leu2135Ter) | |
| X | g.154863150del | CA2695237169 | F8 | c.6509del (p.Leu2170CysfsTer16) c.242del (p.Leu81CysfsTer16) c.104del (p.Leu35CysfsTer16) c.6404del (p.Leu2135CysfsTer16) | |
| X | g.154863149A>C | CA414907448 | F8 | c.6508T>G (p.Leu2170Val) c.241T>G (p.Leu81Val) c.103T>G (p.Leu35Val) c.6403T>G (p.Leu2135Val) | |
| X | g.154863149A>G | CA519357890 | F8 | c.6508T>C (p.Leu2170=) c.241T>C (p.Leu81=) c.103T>C (p.Leu35=) c.6403T>C (p.Leu2135=) | |
| X | g.154863149A>T | CA414907454 | F8 | c.6508T>A (p.Leu2170Met) c.241T>A (p.Leu81Met) c.103T>A (p.Leu35Met) c.6403T>A (p.Leu2135Met) | |
| X | g.154863150A>C | CA519357894 | F8 | c.6507T>G (p.Arg2169=) c.240T>G (p.Arg80=) c.102T>G (p.Arg34=) c.6402T>G (p.Arg2134=) | gnomAD v4 |
| X | g.154863150A>G | CA519357893 | F8 | c.6507T>C (p.Arg2169=) c.240T>C (p.Arg80=) c.102T>C (p.Arg34=) c.6402T>C (p.Arg2134=) | |
| X | g.154863150A>T | CA519357892 | F8 | c.6507T>A (p.Arg2169=) c.240T>A (p.Arg80=) c.102T>A (p.Arg34=) c.6402T>A (p.Arg2134=) | |
| X | g.154863151C>A | CA414907460 | F8 | c.6506G>T (p.Arg2169Leu) c.239G>T (p.Arg80Leu) c.101G>T (p.Arg34Leu) c.6401G>T (p.Arg2134Leu) | dbSNP |
| X | g.154863151C= | CA2466815650 | F8 | c.6506G= (p.Arg2169=) c.239G= (p.Arg80=) c.101G= (p.Arg34=) c.6401G= (p.Arg2134=) | |
| X | g.154863151C>G | CA414907465 | F8 | c.6506G>C (p.Arg2169Pro) c.239G>C (p.Arg80Pro) c.101G>C (p.Arg34Pro) c.6401G>C (p.Arg2134Pro) | |
| X | g.154863151C>T | CA255208 | F8 | c.6506G>A (p.Arg2169His) c.239G>A (p.Arg80His) c.101G>A (p.Arg34His) c.6401G>A (p.Arg2134His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863152G>A | CA10567800 | F8 | c.6505C>T (p.Arg2169Cys) c.238C>T (p.Arg80Cys) c.100C>T (p.Arg34Cys) c.6400C>T (p.Arg2134Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863152G>C | CA414907471 | F8 | c.6505C>G (p.Arg2169Gly) c.238C>G (p.Arg80Gly) c.100C>G (p.Arg34Gly) c.6400C>G (p.Arg2134Gly) | |
| X | g.154863152G= | CA2466815651 | F8 | c.6505C= (p.Arg2169=) c.238C= (p.Arg80=) c.100C= (p.Arg34=) c.6400C= (p.Arg2134=) | |
| X | g.154863152G>T | CA414907477 | F8 | c.6505C>A (p.Arg2169Ser) c.238C>A (p.Arg80Ser) c.100C>A (p.Arg34Ser) c.6400C>A (p.Arg2134Ser) | |
| X | g.154863153G>A | CA519357895 | F8 | c.6504C>T (p.Ile2168=) c.237C>T (p.Ile79=) c.99C>T (p.Ile33=) c.6399C>T (p.Ile2133=) | |
| X | g.154863153G>C | CA414907482 | F8 | c.6504C>G (p.Ile2168Met) c.237C>G (p.Ile79Met) c.99C>G (p.Ile33Met) c.6399C>G (p.Ile2133Met) | |
| X | g.154863153G>T | CA519357896 | F8 | c.6504C>A (p.Ile2168=) c.237C>A (p.Ile79=) c.99C>A (p.Ile33=) c.6399C>A (p.Ile2133=) | |
| X | g.154863154A>C | CA414907488 | F8 | c.6503T>G (p.Ile2168Ser) c.236T>G (p.Ile79Ser) c.98T>G (p.Ile33Ser) c.6398T>G (p.Ile2133Ser) | |
| X | g.154863154A>G | CA414907491 | F8 | c.6503T>C (p.Ile2168Thr) c.236T>C (p.Ile79Thr) c.98T>C (p.Ile33Thr) c.6398T>C (p.Ile2133Thr) | |
| X | g.154863154A>T | CA414907498 | F8 | c.6503T>A (p.Ile2168Asn) c.236T>A (p.Ile79Asn) c.98T>A (p.Ile33Asn) c.6398T>A (p.Ile2133Asn) | |
| X | g.154863155T>A | CA414907501 | F8 | c.6502A>T (p.Ile2168Phe) c.235A>T (p.Ile79Phe) c.97A>T (p.Ile33Phe) c.6397A>T (p.Ile2133Phe) | gnomAD v4 |
| X | g.154863155T>C | CA414907503 | F8 | c.6502A>G (p.Ile2168Val) c.235A>G (p.Ile79Val) c.97A>G (p.Ile33Val) c.6397A>G (p.Ile2133Val) | gnomAD v4 |
| X | g.154863155T>G | CA414907507 | F8 | c.6502A>C (p.Ile2168Leu) c.235A>C (p.Ile79Leu) c.97A>C (p.Ile33Leu) c.6397A>C (p.Ile2133Leu) | |
| X | g.154863156del | CA2695237170 | F8 | c.6501del (p.Tyr2167Ter) c.234del (p.Tyr78Ter) c.96del (p.Tyr32Ter) c.6396del (p.Tyr2132Ter) | |
| X | g.154863156G>A | CA519357898 | F8 | c.6501C>T (p.Tyr2167=) c.234C>T (p.Tyr78=) c.96C>T (p.Tyr32=) c.6396C>T (p.Tyr2132=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154863156G>C | CA414907512 | F8 | c.6501C>G (p.Tyr2167Ter) c.234C>G (p.Tyr78Ter) c.96C>G (p.Tyr32Ter) c.6396C>G (p.Tyr2132Ter) | |
| X | g.154863156G= | CA2466815652 | F8 | c.6501C= (p.Tyr2167=) c.234C= (p.Tyr78=) c.96C= (p.Tyr32=) c.6396C= (p.Tyr2132=) | |
| X | g.154863156G>T | CA414907514 | F8 | c.6501C>A (p.Tyr2167Ter) c.234C>A (p.Tyr78Ter) c.96C>A (p.Tyr32Ter) c.6396C>A (p.Tyr2132Ter) | |
| X | g.154863157T>A | CA414907521 | F8 | c.6500A>T (p.Tyr2167Phe) c.233A>T (p.Tyr78Phe) c.95A>T (p.Tyr32Phe) c.6395A>T (p.Tyr2132Phe) | |
| X | g.154863157T>C | CA414907531 | F8 | c.6500A>G (p.Tyr2167Cys) c.233A>G (p.Tyr78Cys) c.95A>G (p.Tyr32Cys) c.6395A>G (p.Tyr2132Cys) | gnomAD v4 |
| X | g.154863157T>G | CA414907525 | F8 | c.6500A>C (p.Tyr2167Ser) c.233A>C (p.Tyr78Ser) c.95A>C (p.Tyr32Ser) c.6395A>C (p.Tyr2132Ser) | |
| X | g.154863158A>C | CA414907538 | F8 | c.6499T>G (p.Tyr2167Asp) c.232T>G (p.Tyr78Asp) c.94T>G (p.Tyr32Asp) c.6394T>G (p.Tyr2132Asp) | COSMIC COSMIC |
| X | g.154863158A>G | CA414907540 | F8 | c.6499T>C (p.Tyr2167His) c.232T>C (p.Tyr78His) c.94T>C (p.Tyr32His) c.6394T>C (p.Tyr2132His) | |
| X | g.154863158A>T | CA414907544 | F8 | c.6499T>A (p.Tyr2167Asn) c.232T>A (p.Tyr78Asn) c.94T>A (p.Tyr32Asn) c.6394T>A (p.Tyr2132Asn) | |
| X | g.154863159T>A | CA519357901 | F8 | c.6498A>T (p.Arg2166=) c.231A>T (p.Arg77=) c.93A>T (p.Arg31=) c.6393A>T (p.Arg2131=) | |
| X | g.154863159T>C | CA519357902 | F8 | c.6498A>G (p.Arg2166=) c.231A>G (p.Arg77=) c.93A>G (p.Arg31=) c.6393A>G (p.Arg2131=) | |
| X | g.154863159T>G | CA519357903 | F8 | c.6498A>C (p.Arg2166=) c.231A>C (p.Arg77=) c.93A>C (p.Arg31=) c.6393A>C (p.Arg2131=) | |
| X | g.154863160del | CA2695237171 | F8 | c.6497del (p.Arg2166HisfsTer20) c.230del (p.Arg77HisfsTer20) c.92del (p.Arg31HisfsTer20) c.6392del (p.Arg2131HisfsTer20) | |
| X | g.154863160C>A | CA414907549 | F8 | c.6497G>T (p.Arg2166Leu) c.230G>T (p.Arg77Leu) c.92G>T (p.Arg31Leu) c.6392G>T (p.Arg2131Leu) | |
| X | g.154863160C= | CA2466815653 | F8 | c.6497G= (p.Arg2166=) c.230G= (p.Arg77=) c.92G= (p.Arg31=) c.6392G= (p.Arg2131=) | |
| X | g.154863160C>G | CA414907552 | F8 | c.6497G>C (p.Arg2166Pro) c.230G>C (p.Arg77Pro) c.92G>C (p.Arg31Pro) c.6392G>C (p.Arg2131Pro) | dbSNP |
| X | g.154863160C>T | CA10567801 | F8 | c.6497G>A (p.Arg2166Gln) c.230G>A (p.Arg77Gln) c.92G>A (p.Arg31Gln) c.6392G>A (p.Arg2131Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154863161G>A | CA255013 | F8 | c.6496C>T (p.Arg2166Ter) c.229C>T (p.Arg77Ter) c.91C>T (p.Arg31Ter) c.6391C>T (p.Arg2131Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.154863161G>C | CA414907560 | F8 | c.6496C>G (p.Arg2166Gly) c.229C>G (p.Arg77Gly) c.91C>G (p.Arg31Gly) c.6391C>G (p.Arg2131Gly) | |
| X | g.154863161G= | CA2466815654 | F8 | c.6496C= (p.Arg2166=) c.229C= (p.Arg77=) c.91C= (p.Arg31=) c.6391C= (p.Arg2131=) | |
| X | g.154863161G>T | CA519357907 | F8 | c.6496C>A (p.Arg2166=) c.229C>A (p.Arg77=) c.91C>A (p.Arg31=) c.6391C>A (p.Arg2131=) | |
| X | g.154863162A>C | CA519357908 | F8 | c.6495T>G (p.Ala2165=) c.228T>G (p.Ala76=) c.90T>G (p.Ala30=) c.6390T>G (p.Ala2130=) | gnomAD v4 |
| X | g.154863162A>G | CA519357909 | F8 | c.6495T>C (p.Ala2165=) c.228T>C (p.Ala76=) c.90T>C (p.Ala30=) c.6390T>C (p.Ala2130=) | |
| X | g.154863162A>T | CA519357910 | F8 | c.6495T>A (p.Ala2165=) c.228T>A (p.Ala76=) c.90T>A (p.Ala30=) c.6390T>A (p.Ala2130=) | |
| X | g.154863163del | CA2695237172 | F8 | c.6494del (p.Ala2165ValfsTer21) c.227del (p.Ala76ValfsTer21) c.89del (p.Ala30ValfsTer21) c.6389del (p.Ala2130ValfsTer21) | |
| X | g.154863163G>A | CA414907578 | F8 | c.6494C>T (p.Ala2165Val) c.227C>T (p.Ala76Val) c.89C>T (p.Ala30Val) c.6389C>T (p.Ala2130Val) | dbSNP COSMIC COSMIC |
| X | g.154863163G>C | CA414907573 | F8 | c.6494C>G (p.Ala2165Gly) c.227C>G (p.Ala76Gly) c.89C>G (p.Ala30Gly) c.6389C>G (p.Ala2130Gly) | |
| X | g.154863163G= | CA2466815655 | F8 | c.6494C= (p.Ala2165=) c.227C= (p.Ala76=) c.89C= (p.Ala30=) c.6389C= (p.Ala2130=) | |
| X | g.154863163G>T | CA414907566 | F8 | c.6494C>A (p.Ala2165Asp) c.227C>A (p.Ala76Asp) c.89C>A (p.Ala30Asp) c.6389C>A (p.Ala2130Asp) | |
| X | g.154863164C>A | CA414907583 | F8 | c.6493G>T (p.Ala2165Ser) c.226G>T (p.Ala76Ser) c.88G>T (p.Ala30Ser) c.6388G>T (p.Ala2130Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154863164C= | CA2466815656 | F8 | c.6493G= (p.Ala2165=) c.226G= (p.Ala76=) c.88G= (p.Ala30=) c.6388G= (p.Ala2130=) | |
| X | g.154863164C>G | CA414907586 | F8 | c.6493G>C (p.Ala2165Pro) c.226G>C (p.Ala76Pro) c.88G>C (p.Ala30Pro) c.6388G>C (p.Ala2130Pro) | |
| X | g.154863164C>T | CA414907588 | F8 | c.6493G>A (p.Ala2165Thr) c.226G>A (p.Ala76Thr) c.88G>A (p.Ala30Thr) c.6388G>A (p.Ala2130Thr) | |
| X | g.154863165A= | CA2466815657 | F8 | c.6492T= (p.Ile2164=) c.225T= (p.Ile75=) c.87T= (p.Ile29=) c.6387T= (p.Ile2129=) | |
| X | g.154863165A>C | CA414907591 | F8 | c.6492T>G (p.Ile2164Met) c.225T>G (p.Ile75Met) c.87T>G (p.Ile29Met) c.6387T>G (p.Ile2129Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154863165A>G | CA519357918 | F8 | c.6492T>C (p.Ile2164=) c.225T>C (p.Ile75=) c.87T>C (p.Ile29=) c.6387T>C (p.Ile2129=) | |
| X | g.154863165A>T | CA519357914 | F8 | c.6492T>A (p.Ile2164=) c.225T>A (p.Ile75=) c.87T>A (p.Ile29=) c.6387T>A (p.Ile2129=) | |
| X | g.154863166A>C | CA414907596 | F8 | c.6491T>G (p.Ile2164Ser) c.224T>G (p.Ile75Ser) c.86T>G (p.Ile29Ser) c.6386T>G (p.Ile2129Ser) | |
| X | g.154863166A>G | CA414907603 | F8 | c.6491T>C (p.Ile2164Thr) c.224T>C (p.Ile75Thr) c.86T>C (p.Ile29Thr) c.6386T>C (p.Ile2129Thr) | |
| X | g.154863166A>T | CA414907608 | F8 | c.6491T>A (p.Ile2164Asn) c.224T>A (p.Ile75Asn) c.86T>A (p.Ile29Asn) c.6386T>A (p.Ile2129Asn) | |
| X | g.154863167T>A | CA414907613 | F8 | c.6490A>T (p.Ile2164Phe) c.223A>T (p.Ile75Phe) c.85A>T (p.Ile29Phe) c.6385A>T (p.Ile2129Phe) | |
| X | g.154863167T>C | CA414907615 | F8 | c.6490A>G (p.Ile2164Val) c.223A>G (p.Ile75Val) c.85A>G (p.Ile29Val) c.6385A>G (p.Ile2129Val) | COSMIC COSMIC |
| X | g.154863167T>G | CA414907622 | F8 | c.6490A>C (p.Ile2164Leu) c.223A>C (p.Ile75Leu) c.85A>C (p.Ile29Leu) c.6385A>C (p.Ile2129Leu) | |
| X | g.154863167T= | CA2466815658 | F8 | c.6490A= (p.Ile2164=) c.223A= (p.Ile75=) c.85A= (p.Ile29=) c.6385A= (p.Ile2129=) | |
| X | g.154863168A>C | CA414907626 | F8 | c.6489T>G (p.Ile2163Met) c.222T>G (p.Ile74Met) c.84T>G (p.Ile28Met) c.6384T>G (p.Ile2128Met) | |
| X | g.154863168A>G | CA519357921 | F8 | c.6489T>C (p.Ile2163=) c.222T>C (p.Ile74=) c.84T>C (p.Ile28=) c.6384T>C (p.Ile2128=) | |
| X | g.154863168A>T | CA519357922 | F8 | c.6489T>A (p.Ile2163=) c.222T>A (p.Ile74=) c.84T>A (p.Ile28=) c.6384T>A (p.Ile2128=) | |
| X | g.154863168_154863169dup | CA2466815659 | F8 | c.6488_6489dup (p.Ile2164LeufsTer23) c.221_222dup (p.Ile75LeufsTer23) c.83_84dup (p.Ile29LeufsTer23) c.6383_6384dup (p.Ile2129LeufsTer23) | dbSNP |
| X | g.154863169del | CA2695237173 | F8 | c.6489del (p.Ile2164LeufsTer22) c.222del (p.Ile75LeufsTer22) c.84del (p.Ile29LeufsTer22) c.6384del (p.Ile2129LeufsTer22) | |
| X | g.154863169A>C | CA414907631 | F8 | c.6488T>G (p.Ile2163Ser) c.221T>G (p.Ile74Ser) c.83T>G (p.Ile28Ser) c.6383T>G (p.Ile2128Ser) | |
| X | g.154863169A>G | CA414907630 | F8 | c.6488T>C (p.Ile2163Thr) c.221T>C (p.Ile74Thr) c.83T>C (p.Ile28Thr) c.6383T>C (p.Ile2128Thr) | |
| X | g.154863169A>T | CA414907629 | F8 | c.6488T>A (p.Ile2163Asn) c.221T>A (p.Ile74Asn) c.83T>A (p.Ile28Asn) c.6383T>A (p.Ile2128Asn) | |
| X | g.154863170T>A | CA414907633 | F8 | c.6487A>T (p.Ile2163Phe) c.220A>T (p.Ile74Phe) c.82A>T (p.Ile28Phe) c.6382A>T (p.Ile2128Phe) | |
| X | g.154863170T>C | CA414907636 | F8 | c.6487A>G (p.Ile2163Val) c.220A>G (p.Ile74Val) c.82A>G (p.Ile28Val) c.6382A>G (p.Ile2128Val) | gnomAD v4 |
| X | g.154863170T>G | CA414907637 | F8 | c.6487A>C (p.Ile2163Leu) c.220A>C (p.Ile74Leu) c.82A>C (p.Ile28Leu) c.6382A>C (p.Ile2128Leu) | |
| X | g.154863171T>A | CA519357931 | F8 | c.6486A>T (p.Pro2162=) c.219A>T (p.Pro73=) c.81A>T (p.Pro27=) c.6381A>T (p.Pro2127=) | |
| X | g.154863171T>C | CA519357935 | F8 | c.6486A>G (p.Pro2162=) c.219A>G (p.Pro73=) c.81A>G (p.Pro27=) c.6381A>G (p.Pro2127=) | |
| X | g.154863171T>G | CA519357940 | F8 | c.6486A>C (p.Pro2162=) c.219A>C (p.Pro73=) c.81A>C (p.Pro27=) c.6381A>C (p.Pro2127=) | |
| X | g.154863171_154863172delinsACATC | CA2695237174 | F8 | c.6485_6486delinsGATGT (p.Pro2162delinsArgCys) c.218_219delinsGATGT (p.Pro73delinsArgCys) c.80_81delinsGATGT (p.Pro27delinsArgCys) c.6380_6381delinsGATGT (p.Pro2127delinsArgCys) | |
| X | g.154863172G>A | CA414907641 | F8 | c.6485C>T (p.Pro2162Leu) c.218C>T (p.Pro73Leu) c.80C>T (p.Pro27Leu) c.6380C>T (p.Pro2127Leu) | ClinVar dbSNP |
| X | g.154863172G>C | CA414907642 | F8 | c.6485C>G (p.Pro2162Arg) c.218C>G (p.Pro73Arg) c.80C>G (p.Pro27Arg) c.6380C>G (p.Pro2127Arg) | |
| X | g.154863172G= | CA2466815660 | F8 | c.6485C= (p.Pro2162=) c.218C= (p.Pro73=) c.80C= (p.Pro27=) c.6380C= (p.Pro2127=) | |
| X | g.154863172G>T | CA414907646 | F8 | c.6485C>A (p.Pro2162Gln) c.218C>A (p.Pro73Gln) c.80C>A (p.Pro27Gln) c.6380C>A (p.Pro2127Gln) | gnomAD v4 |
| X | g.154863173G>A | CA414907653 | F8 | c.6484C>T (p.Pro2162Ser) c.217C>T (p.Pro73Ser) c.79C>T (p.Pro27Ser) c.6379C>T (p.Pro2127Ser) | |
| X | g.154863173G>C | CA414907657 | F8 | c.6484C>G (p.Pro2162Ala) c.217C>G (p.Pro73Ala) c.79C>G (p.Pro27Ala) c.6379C>G (p.Pro2127Ala) | |
| X | g.154863173G>T | CA414907664 | F8 | c.6484C>A (p.Pro2162Thr) c.217C>A (p.Pro73Thr) c.79C>A (p.Pro27Thr) c.6379C>A (p.Pro2127Thr) | |
| X | g.154863174del | CA2579752264 | F8 | c.6483del (p.Pro2162GlnfsTer24) c.216del (p.Pro73GlnfsTer24) c.78del (p.Pro27GlnfsTer24) c.6378del (p.Pro2127GlnfsTer24) | |
| X | g.154863174A= | CA2466815661 | F8 | c.6483T= (p.Pro2161=) c.216T= (p.Pro72=) c.78T= (p.Pro26=) c.6378T= (p.Pro2126=) | |
| X | g.154863174A>C | CA519357943 | F8 | c.6483T>G (p.Pro2161=) c.216T>G (p.Pro72=) c.78T>G (p.Pro26=) c.6378T>G (p.Pro2126=) | |
| X | g.154863174A>G | CA519357944 | F8 | c.6483T>C (p.Pro2161=) c.216T>C (p.Pro72=) c.78T>C (p.Pro26=) c.6378T>C (p.Pro2126=) | |
| X | g.154863174A>T | CA519357945 | F8 | c.6483T>A (p.Pro2161=) c.216T>A (p.Pro72=) c.78T>A (p.Pro26=) c.6378T>A (p.Pro2126=) | ClinVar dbSNP gnomAD v4 |
| X | g.154863175G>A | CA414907667 | F8 | c.6482C>T (p.Pro2161Leu) c.215C>T (p.Pro72Leu) c.77C>T (p.Pro26Leu) c.6377C>T (p.Pro2126Leu) | dbSNP gnomAD v4 |
| X | g.154863175G>C | CA414907669 | F8 | c.6482C>G (p.Pro2161Arg) c.215C>G (p.Pro72Arg) c.77C>G (p.Pro26Arg) c.6377C>G (p.Pro2126Arg) | |
| X | g.154863175G= | CA2466815662 | F8 | c.6482C= (p.Pro2161=) c.215C= (p.Pro72=) c.77C= (p.Pro26=) c.6377C= (p.Pro2126=) | |
| X | g.154863175G>T | CA414907672 | F8 | c.6482C>A (p.Pro2161His) c.215C>A (p.Pro72His) c.77C>A (p.Pro26His) c.6377C>A (p.Pro2126His) | |
| X | g.154863177del | CA2695237175 | F8 | c.6482del (p.Pro2161LeufsTer25) c.215del (p.Pro72LeufsTer25) c.77del (p.Pro26LeufsTer25) c.6377del (p.Pro2126LeufsTer25) | |
| X | g.154863176G>A | CA414907682 | F8 | c.6481C>T (p.Pro2161Ser) c.214C>T (p.Pro72Ser) c.76C>T (p.Pro26Ser) c.6376C>T (p.Pro2126Ser) | |
| X | g.154863176G>C | CA414907686 | F8 | c.6481C>G (p.Pro2161Ala) c.214C>G (p.Pro72Ala) c.76C>G (p.Pro26Ala) c.6376C>G (p.Pro2126Ala) | |
| X | g.154863176G>T | CA414907678 | F8 | c.6481C>A (p.Pro2161Thr) c.214C>A (p.Pro72Thr) c.76C>A (p.Pro26Thr) c.6376C>A (p.Pro2126Thr) | |
| X | g.154863177G>A | CA519357947 | F8 | c.6480C>T (p.Asn2160=) c.213C>T (p.Asn71=) c.75C>T (p.Asn25=) c.6375C>T (p.Asn2125=) | gnomAD v4 |
| X | g.154863177G>C | CA414907701 | F8 | c.6480C>G (p.Asn2160Lys) c.213C>G (p.Asn71Lys) c.75C>G (p.Asn25Lys) c.6375C>G (p.Asn2125Lys) | |
| X | g.154863177G>T | CA414907691 | F8 | c.6480C>A (p.Asn2160Lys) c.213C>A (p.Asn71Lys) c.75C>A (p.Asn25Lys) c.6375C>A (p.Asn2125Lys) | |
| X | g.154863178T>A | CA414907705 | F8 | c.6479A>T (p.Asn2160Ile) c.212A>T (p.Asn71Ile) c.74A>T (p.Asn25Ile) c.6374A>T (p.Asn2125Ile) | |
| X | g.154863178T>C | CA414907703 | F8 | c.6479A>G (p.Asn2160Ser) c.212A>G (p.Asn71Ser) c.74A>G (p.Asn25Ser) c.6374A>G (p.Asn2125Ser) | |
| X | g.154863178T>G | CA414907704 | F8 | c.6479A>C (p.Asn2160Thr) c.212A>C (p.Asn71Thr) c.74A>C (p.Asn25Thr) c.6374A>C (p.Asn2125Thr) | |
| X | g.154863179T>A | CA414907706 | F8 | c.6478A>T (p.Asn2160Tyr) c.211A>T (p.Asn71Tyr) c.73A>T (p.Asn25Tyr) c.6373A>T (p.Asn2125Tyr) | |
| X | g.154863179T>C | CA414907708 | F8 | c.6478A>G (p.Asn2160Asp) c.211A>G (p.Asn71Asp) c.73A>G (p.Asn25Asp) c.6373A>G (p.Asn2125Asp) | |
| X | g.154863179T>G | CA414907711 | F8 | c.6478A>C (p.Asn2160His) c.211A>C (p.Asn71His) c.73A>C (p.Asn25His) c.6373A>C (p.Asn2125His) | |
| X | g.154863180A>C | CA414907716 | F8 | c.6477T>G (p.Phe2159Leu) c.210T>G (p.Phe70Leu) c.72T>G (p.Phe24Leu) c.6372T>G (p.Phe2124Leu) | |
| X | g.154863180A>G | CA519357954 | F8 | c.6477T>C (p.Phe2159=) c.210T>C (p.Phe70=) c.72T>C (p.Phe24=) c.6372T>C (p.Phe2124=) | |
| X | g.154863180A>T | CA414907720 | F8 | c.6477T>A (p.Phe2159Leu) c.210T>A (p.Phe70Leu) c.72T>A (p.Phe24Leu) c.6372T>A (p.Phe2124Leu) | |
| X | g.154863184del | CA2695237176 | F8 | c.6477del (p.Phe2159LeufsTer27) c.210del (p.Phe70LeufsTer27) c.72del (p.Phe24LeufsTer27) c.6372del (p.Phe2124LeufsTer27) | |
| X | g.154863181A>C | CA414907731 | F8 | c.6476T>G (p.Phe2159Cys) c.209T>G (p.Phe70Cys) c.71T>G (p.Phe24Cys) c.6371T>G (p.Phe2124Cys) | COSMIC COSMIC |
| X | g.154863181A>G | CA414907732 | F8 | c.6476T>C (p.Phe2159Ser) c.209T>C (p.Phe70Ser) c.71T>C (p.Phe24Ser) c.6371T>C (p.Phe2124Ser) | |
| X | g.154863181A>T | CA414907737 | F8 | c.6476T>A (p.Phe2159Tyr) c.209T>A (p.Phe70Tyr) c.71T>A (p.Phe24Tyr) c.6371T>A (p.Phe2124Tyr) | |
| X | g.154863182A>C | CA414907745 | F8 | c.6475T>G (p.Phe2159Val) c.208T>G (p.Phe70Val) c.70T>G (p.Phe24Val) c.6370T>G (p.Phe2124Val) | gnomAD v4 |
| X | g.154863182A>G | CA414907741 | F8 | c.6475T>C (p.Phe2159Leu) c.208T>C (p.Phe70Leu) c.70T>C (p.Phe24Leu) c.6370T>C (p.Phe2124Leu) | |
| X | g.154863182A>T | CA414907742 | F8 | c.6475T>A (p.Phe2159Ile) c.208T>A (p.Phe70Ile) c.70T>A (p.Phe24Ile) c.6370T>A (p.Phe2124Ile) | |
| X | g.154863183A>C | CA414907749 | F8 | c.6474T>G (p.Ile2158Met) c.207T>G (p.Ile69Met) c.69T>G (p.Ile23Met) c.6369T>G (p.Ile2123Met) | |
| X | g.154863183A>G | CA519357960 | F8 | c.6474T>C (p.Ile2158=) c.207T>C (p.Ile69=) c.69T>C (p.Ile23=) c.6369T>C (p.Ile2123=) | |
| X | g.154863183A>T | CA519357961 | F8 | c.6474T>A (p.Ile2158=) c.207T>A (p.Ile69=) c.69T>A (p.Ile23=) c.6369T>A (p.Ile2123=) | |
| X | g.154863184A>C | CA414907757 | F8 | c.6473T>G (p.Ile2158Ser) c.206T>G (p.Ile69Ser) c.68T>G (p.Ile23Ser) c.6368T>G (p.Ile2123Ser) | |
| X | g.154863184A>G | CA414907766 | F8 | c.6473T>C (p.Ile2158Thr) c.206T>C (p.Ile69Thr) c.68T>C (p.Ile23Thr) c.6368T>C (p.Ile2123Thr) | |
| X | g.154863184A>T | CA414907770 | F8 | c.6473T>A (p.Ile2158Asn) c.206T>A (p.Ile69Asn) c.68T>A (p.Ile23Asn) c.6368T>A (p.Ile2123Asn) | |
| X | g.154863184_154863185insAAAAAT | CA2695237177 | F8 | c.6472_6473insATTTTT (p.Ile2158delinsAsnPhePhe) c.205_206insATTTTT (p.Ile69delinsAsnPhePhe) c.67_68insATTTTT (p.Ile23delinsAsnPhePhe) c.6367_6368insATTTTT (p.Ile2123delinsAsnPhePhe) | |
| X | g.154863185T>A | CA414907774 | F8 | c.6472A>T (p.Ile2158Phe) c.205A>T (p.Ile69Phe) c.67A>T (p.Ile23Phe) c.6367A>T (p.Ile2123Phe) | |
| X | g.154863185T>C | CA10567802 | F8 | c.6472A>G (p.Ile2158Val) c.205A>G (p.Ile69Val) c.67A>G (p.Ile23Val) c.6367A>G (p.Ile2123Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863185T>G | CA414907785 | F8 | c.6472A>C (p.Ile2158Leu) c.205A>C (p.Ile69Leu) c.67A>C (p.Ile23Leu) c.6367A>C (p.Ile2123Leu) | |
| X | g.154863185T= | CA2466815663 | F8 | c.6472A= (p.Ile2158=) c.205A= (p.Ile69=) c.67A= (p.Ile23=) c.6367A= (p.Ile2123=) | |
| X | g.154863186A= | CA2466815665 | F8 | c.6471T= (p.Asn2157=) c.204T= (p.Asn68=) c.66T= (p.Asn22=) c.6366T= (p.Asn2122=) | |
| X | g.154863186A>C | CA414907790 | F8 | c.6471T>G (p.Asn2157Lys) c.204T>G (p.Asn68Lys) c.66T>G (p.Asn22Lys) c.6366T>G (p.Asn2122Lys) | |
| X | g.154863186A>G | CA10567803 | F8 | c.6471T>C (p.Asn2157=) c.204T>C (p.Asn68=) c.66T>C (p.Asn22=) c.6366T>C (p.Asn2122=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863186A>T | CA414907793 | F8 | c.6471T>A (p.Asn2157Lys) c.204T>A (p.Asn68Lys) c.66T>A (p.Asn22Lys) c.6366T>A (p.Asn2122Lys) | |
| X | g.154863187T>A | CA414907801 | F8 | c.6470A>T (p.Asn2157Ile) c.203A>T (p.Asn68Ile) c.65A>T (p.Asn22Ile) c.6365A>T (p.Asn2122Ile) | |
| X | g.154863187T>C | CA414907803 | F8 | c.6470A>G (p.Asn2157Ser) c.203A>G (p.Asn68Ser) c.65A>G (p.Asn22Ser) c.6365A>G (p.Asn2122Ser) | dbSNP gnomAD v4 |
| X | g.154863187T>G | CA414907795 | F8 | c.6470A>C (p.Asn2157Thr) c.203A>C (p.Asn68Thr) c.65A>C (p.Asn22Thr) c.6365A>C (p.Asn2122Thr) | |
| X | g.154863187T= | CA2466815666 | F8 | c.6470A= (p.Asn2157=) c.203A= (p.Asn68=) c.65A= (p.Asn22=) c.6365A= (p.Asn2122=) | |
| X | g.154863187_154863188del | CA2695237179 | F8 | c.6469_6470del (p.Asn2157TyrfsTer3) c.202_203del (p.Asn68TyrfsTer3) c.64_65del (p.Asn22TyrfsTer3) c.6364_6365del (p.Asn2122TyrfsTer3) | |
| X | g.154863188del | CA2695237178 | F8 | c.6470del (p.Asn2157IlefsTer29) c.203del (p.Asn68IlefsTer29) c.65del (p.Asn22IlefsTer29) c.6365del (p.Asn2122IlefsTer29) | |
| X | g.154863188T>A | CA414907805 | F8 | c.6469A>T (p.Asn2157Tyr) c.202A>T (p.Asn68Tyr) c.64A>T (p.Asn22Tyr) c.6364A>T (p.Asn2122Tyr) | |
| X | g.154863188T>C | CA414907806 | F8 | c.6469A>G (p.Asn2157Asp) c.202A>G (p.Asn68Asp) c.64A>G (p.Asn22Asp) c.6364A>G (p.Asn2122Asp) | dbSNP |
| X | g.154863188T>G | CA414907807 | F8 | c.6469A>C (p.Asn2157His) c.202A>C (p.Asn68His) c.64A>C (p.Asn22His) c.6364A>C (p.Asn2122His) | gnomAD v4 |
| X | g.154863188T= | CA2466815667 | F8 | c.6469A= (p.Asn2157=) c.202A= (p.Asn68=) c.64A= (p.Asn22=) c.6364A= (p.Asn2122=) | |
| X | g.154863189G>A | CA519357973 | F8 | c.6468C>T (p.His2156=) c.201C>T (p.His67=) c.63C>T (p.His21=) c.6363C>T (p.His2121=) | |
| X | g.154863189G>C | CA414907808 | F8 | c.6468C>G (p.His2156Gln) c.201C>G (p.His67Gln) c.63C>G (p.His21Gln) c.6363C>G (p.His2121Gln) | |
| X | g.154863189G>T | CA414907809 | F8 | c.6468C>A (p.His2156Gln) c.201C>A (p.His67Gln) c.63C>A (p.His21Gln) c.6363C>A (p.His2121Gln) | |
| X | g.154863190T>A | CA414907811 | F8 | c.6467A>T (p.His2156Leu) c.200A>T (p.His67Leu) c.62A>T (p.His21Leu) c.6362A>T (p.His2121Leu) | |
| X | g.154863190T>C | CA414907817 | F8 | c.6467A>G (p.His2156Arg) c.200A>G (p.His67Arg) c.62A>G (p.His21Arg) c.6362A>G (p.His2121Arg) | |
| X | g.154863190T>G | CA414907820 | F8 | c.6467A>C (p.His2156Pro) c.200A>C (p.His67Pro) c.62A>C (p.His21Pro) c.6362A>C (p.His2121Pro) | |
| X | g.154863191G>A | CA414907822 | F8 | c.6466C>T (p.His2156Tyr) c.199C>T (p.His67Tyr) c.61C>T (p.His21Tyr) c.6361C>T (p.His2121Tyr) | |
| X | g.154863191G>C | CA414907824 | F8 | c.6466C>G (p.His2156Asp) c.199C>G (p.His67Asp) c.61C>G (p.His21Asp) c.6361C>G (p.His2121Asp) | |
| X | g.154863191G>T | CA414907826 | F8 | c.6466C>A (p.His2156Asn) c.199C>A (p.His67Asn) c.61C>A (p.His21Asn) c.6361C>A (p.His2121Asn) | gnomAD v4 |
| X | g.154863191_154863193delinsGTT | CA2466815668 | F8 | c.6464_6466delinsAAC (p.Lys2155=) c.197_199delinsAAC (p.Lys66=) c.59_61delinsAAC (p.Lys20=) c.6359_6361delinsAAC (p.Lys2120=) | |
| X | g.154863192T>A | CA414907836 | F8 | c.6465A>T (p.Lys2155Asn) c.198A>T (p.Lys66Asn) c.60A>T (p.Lys20Asn) c.6360A>T (p.Lys2120Asn) | |
| X | g.154863192T>C | CA519357980 | F8 | c.6465A>G (p.Lys2155=) c.198A>G (p.Lys66=) c.60A>G (p.Lys20=) c.6360A>G (p.Lys2120=) | gnomAD v4 |
| X | g.154863192T>G | CA414907834 | F8 | c.6465A>C (p.Lys2155Asn) c.198A>C (p.Lys66Asn) c.60A>C (p.Lys20Asn) c.6360A>C (p.Lys2120Asn) | |
| X | g.154863195del | CA2695237180 | F8 | c.6465del (p.Lys2155AsnfsTer?) c.198del (p.Lys66AsnfsTer?) c.60del (p.Lys20AsnfsTer?) c.6360del (p.Lys2120AsnfsTer?) | |
| X | g.154863194_154863195del | CA255206 | F8 | c.6464_6465del (p.Lys2155ThrfsTer5) c.197_198del (p.Lys66ThrfsTer5) c.59_60del (p.Lys20ThrfsTer5) c.6359_6360del (p.Lys2120ThrfsTer5) | ClinVar dbSNP |
| X | g.154863193T>A | CA414907838 | F8 | c.6464A>T (p.Lys2155Ile) c.197A>T (p.Lys66Ile) c.59A>T (p.Lys20Ile) c.6359A>T (p.Lys2120Ile) | |
| X | g.154863193T>C | CA414907840 | F8 | c.6464A>G (p.Lys2155Arg) c.197A>G (p.Lys66Arg) c.59A>G (p.Lys20Arg) c.6359A>G (p.Lys2120Arg) | |
| X | g.154863193T>G | CA414907842 | F8 | c.6464A>C (p.Lys2155Thr) c.197A>C (p.Lys66Thr) c.59A>C (p.Lys20Thr) c.6359A>C (p.Lys2120Thr) | |
| X | g.154863194T>A | CA414907844 | F8 | c.6463A>T (p.Lys2155Ter) c.196A>T (p.Lys66Ter) c.58A>T (p.Lys20Ter) c.6358A>T (p.Lys2120Ter) | |
| X | g.154863194T>C | CA414907845 | F8 | c.6463A>G (p.Lys2155Glu) c.196A>G (p.Lys66Glu) c.58A>G (p.Lys20Glu) c.6358A>G (p.Lys2120Glu) | |
| X | g.154863194T>G | CA414907847 | F8 | c.6463A>C (p.Lys2155Gln) c.196A>C (p.Lys66Gln) c.58A>C (p.Lys20Gln) c.6358A>C (p.Lys2120Gln) | |
| X | g.154863195T>A | CA519357988 | F8 | c.6462A>T (p.Ile2154=) c.195A>T (p.Ile65=) c.57A>T (p.Ile19=) c.6357A>T (p.Ile2119=) | |
| X | g.154863195T>C | CA414907850 | F8 | c.6462A>G (p.Ile2154Met) c.195A>G (p.Ile65Met) c.57A>G (p.Ile19Met) c.6357A>G (p.Ile2119Met) | |
| X | g.154863195T>G | CA519357991 | F8 | c.6462A>C (p.Ile2154=) c.195A>C (p.Ile65=) c.57A>C (p.Ile19=) c.6357A>C (p.Ile2119=) | |
| X | g.154863196A>C | CA414907851 | F8 | c.6461T>G (p.Ile2154Arg) c.194T>G (p.Ile65Arg) c.56T>G (p.Ile19Arg) c.6356T>G (p.Ile2119Arg) | |
| X | g.154863196A>G | CA414907852 | F8 | c.6461T>C (p.Ile2154Thr) c.194T>C (p.Ile65Thr) c.56T>C (p.Ile19Thr) c.6356T>C (p.Ile2119Thr) | |
| X | g.154863196A>T | CA414907854 | F8 | c.6461T>A (p.Ile2154Lys) c.194T>A (p.Ile65Lys) c.56T>A (p.Ile19Lys) c.6356T>A (p.Ile2119Lys) | |
| X | g.154863197T>A | CA414907857 | F8 | c.6460A>T (p.Ile2154Leu) c.193A>T (p.Ile65Leu) c.55A>T (p.Ile19Leu) c.6355A>T (p.Ile2119Leu) | |
| X | g.154863197T>C | CA414907859 | F8 | c.6460A>G (p.Ile2154Val) c.193A>G (p.Ile65Val) c.55A>G (p.Ile19Val) c.6355A>G (p.Ile2119Val) | |
| X | g.154863197T>G | CA414907860 | F8 | c.6460A>C (p.Ile2154Leu) c.193A>C (p.Ile65Leu) c.55A>C (p.Ile19Leu) c.6355A>C (p.Ile2119Leu) | |
| X | g.154863198C>A | CA519357995 | F8 | c.6459G>T (p.Gly2153=) c.192G>T (p.Gly64=) c.54G>T (p.Gly18=) c.6354G>T (p.Gly2118=) | |
| X | g.154863198C>G | CA519357997 | F8 | c.6459G>C (p.Gly2153=) c.192G>C (p.Gly64=) c.54G>C (p.Gly18=) c.6354G>C (p.Gly2118=) | |
| X | g.154863198C>T | CA519357996 | F8 | c.6459G>A (p.Gly2153=) c.192G>A (p.Gly64=) c.54G>A (p.Gly18=) c.6354G>A (p.Gly2118=) | |
| X | g.154863199C>A | CA414907864 | F8 | c.6458G>T (p.Gly2153Val) c.191G>T (p.Gly64Val) c.53G>T (p.Gly18Val) c.6353G>T (p.Gly2118Val) | |
| X | g.154863199C>G | CA414907866 | F8 | c.6458G>C (p.Gly2153Ala) c.191G>C (p.Gly64Ala) c.53G>C (p.Gly18Ala) c.6353G>C (p.Gly2118Ala) | |
| X | g.154863199C>T | CA414907862 | F8 | c.6458G>A (p.Gly2153Glu) c.191G>A (p.Gly64Glu) c.53G>A (p.Gly18Glu) c.6353G>A (p.Gly2118Glu) | |
| X | g.154863200C>A | CA414907880 | F8 | c.6457G>T (p.Gly2153Trp) c.190G>T (p.Gly64Trp) c.52G>T (p.Gly18Trp) c.6352G>T (p.Gly2118Trp) | COSMIC COSMIC |
| X | g.154863200C>G | CA414907871 | F8 | c.6457G>C (p.Gly2153Arg) c.190G>C (p.Gly64Arg) c.52G>C (p.Gly18Arg) c.6352G>C (p.Gly2118Arg) | |
| X | g.154863200C>T | CA414907873 | F8 | c.6457G>A (p.Gly2153Arg) c.190G>A (p.Gly64Arg) c.52G>A (p.Gly18Arg) c.6352G>A (p.Gly2118Arg) | |
| X | g.154863201A>C | CA519357999 | F8 | c.6456T>G (p.Ser2152=) c.189T>G (p.Ser63=) c.51T>G (p.Ser17=) c.6351T>G (p.Ser2117=) | |
| X | g.154863201A>G | CA519358000 | F8 | c.6456T>C (p.Ser2152=) c.189T>C (p.Ser63=) c.51T>C (p.Ser17=) c.6351T>C (p.Ser2117=) | |
| X | g.154863201A>T | CA519358001 | F8 | c.6456T>A (p.Ser2152=) c.189T>A (p.Ser63=) c.51T>A (p.Ser17=) c.6351T>A (p.Ser2117=) | |
| X | g.154863201_154863202delinsAG | CA2466815669 | F8 | c.6455_6456delinsCT (p.Ser2152=) c.188_189delinsCT (p.Ser63=) c.50_51delinsCT (p.Ser17=) c.6350_6351delinsCT (p.Ser2117=) | |
| X | g.154863202del | CA873369605 | F8 | c.6455del (p.Ser2152LeufsTer3) c.188del (p.Ser63LeufsTer3) c.50del (p.Ser17LeufsTer3) c.6350del (p.Ser2117LeufsTer3) | dbSNP |
| X | g.154863202G>A | CA414907884 | F8 | c.6455C>T (p.Ser2152Phe) c.188C>T (p.Ser63Phe) c.50C>T (p.Ser17Phe) c.6350C>T (p.Ser2117Phe) | |
| X | g.154863202G>C | CA414907885 | F8 | c.6455C>G (p.Ser2152Cys) c.188C>G (p.Ser63Cys) c.50C>G (p.Ser17Cys) c.6350C>G (p.Ser2117Cys) | |
| X | g.154863202G>T | CA414907887 | F8 | c.6455C>A (p.Ser2152Tyr) c.188C>A (p.Ser63Tyr) c.50C>A (p.Ser17Tyr) c.6350C>A (p.Ser2117Tyr) | |
| X | g.154863202_154863203delinsATAT | CA2695237181 | F8 | c.6454_6455delinsATAT (p.Ser2152IlefsTer4) c.187_188delinsATAT (p.Ser63IlefsTer4) c.49_50delinsATAT (p.Ser17IlefsTer4) c.6349_6350delinsATAT (p.Ser2117IlefsTer4) | |
| X | g.154863203A= | CA2466815671 | F8 | c.6454T= (p.Ser2152=) c.187T= (p.Ser63=) c.49T= (p.Ser17=) c.6349T= (p.Ser2117=) | |
| X | g.154863203A>C | CA414907890 | F8 | c.6454T>G (p.Ser2152Ala) c.187T>G (p.Ser63Ala) c.49T>G (p.Ser17Ala) c.6349T>G (p.Ser2117Ala) | |
| X | g.154863203A>G | CA414907892 | F8 | c.6454T>C (p.Ser2152Pro) c.187T>C (p.Ser63Pro) c.49T>C (p.Ser17Pro) c.6349T>C (p.Ser2117Pro) | ClinVar |
| X | g.154863203A>T | CA414907895 | F8 | c.6454T>A (p.Ser2152Thr) c.187T>A (p.Ser63Thr) c.49T>A (p.Ser17Thr) c.6349T>A (p.Ser2117Thr) | |
| X | g.154863204T>A | CA519358004 | F8 | c.6453A>T (p.Ser2151=) c.186A>T (p.Ser62=) c.48A>T (p.Ser16=) c.6348A>T (p.Ser2116=) | |
| X | g.154863204T>C | CA519358005 | F8 | c.6453A>G (p.Ser2151=) c.186A>G (p.Ser62=) c.48A>G (p.Ser16=) c.6348A>G (p.Ser2116=) | |
| X | g.154863204T>G | CA519358006 | F8 | c.6453A>C (p.Ser2151=) c.186A>C (p.Ser62=) c.48A>C (p.Ser16=) c.6348A>C (p.Ser2116=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154863204T= | CA2466815674 | F8 | c.6453A= (p.Ser2151=) c.186A= (p.Ser62=) c.48A= (p.Ser16=) c.6348A= (p.Ser2116=) | |
| X | g.154863204_154863205insATT | CA2466815673 | F8 | c.6453_6454insATA (p.Ser2151_Ser2152insIle) c.186_187insATA (p.Ser62_Ser63insIle) c.48_49insATA (p.Ser16_Ser17insIle) c.6348_6349insATA (p.Ser2116_Ser2117insIle) | dbSNP |
| X | g.154863205G>A | CA414907898 | F8 | c.6452C>T (p.Ser2151Leu) c.185C>T (p.Ser62Leu) c.47C>T (p.Ser16Leu) c.6347C>T (p.Ser2116Leu) | dbSNP |
| X | g.154863205G>C | CA414907900 | F8 | c.6452C>G (p.Ser2151Ter) c.185C>G (p.Ser62Ter) c.47C>G (p.Ser16Ter) c.6347C>G (p.Ser2116Ter) | |
| X | g.154863205G= | CA2466815676 | F8 | c.6452C= (p.Ser2151=) c.185C= (p.Ser62=) c.47C= (p.Ser16=) c.6347C= (p.Ser2116=) | |
| X | g.154863205G>T | CA414907901 | F8 | c.6452C>A (p.Ser2151Ter) c.185C>A (p.Ser62Ter) c.47C>A (p.Ser16Ter) c.6347C>A (p.Ser2116Ter) | dbSNP |
| X | g.154863206A= | CA2466815679 | F8 | c.6451T= (p.Ser2151=) c.184T= (p.Ser62=) c.46T= (p.Ser16=) c.6346T= (p.Ser2116=) | |
| X | g.154863206A>C | CA10567804 | F8 | c.6451T>G (p.Ser2151Ala) c.184T>G (p.Ser62Ala) c.46T>G (p.Ser16Ala) c.6346T>G (p.Ser2116Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863206A>G | CA414907905 | F8 | c.6451T>C (p.Ser2151Pro) c.184T>C (p.Ser62Pro) c.46T>C (p.Ser16Pro) c.6346T>C (p.Ser2116Pro) | |
| X | g.154863206A>T | CA414907906 | F8 | c.6451T>A (p.Ser2151Thr) c.184T>A (p.Ser62Thr) c.46T>A (p.Ser16Thr) c.6346T>A (p.Ser2116Thr) | |
| X | g.154863207A= | CA2466815681 | F8 | c.6450T= (p.Asp2150=) c.183T= (p.Asp61=) c.45T= (p.Asp15=) c.6345T= (p.Asp2115=) | |
| X | g.154863207A>C | CA414907910 | F8 | c.6450T>G (p.Asp2150Glu) c.183T>G (p.Asp61Glu) c.45T>G (p.Asp15Glu) c.6345T>G (p.Asp2115Glu) | |
| X | g.154863207A>G | CA519358011 | F8 | c.6450T>C (p.Asp2150=) c.183T>C (p.Asp61=) c.45T>C (p.Asp15=) c.6345T>C (p.Asp2115=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154863207A>T | CA414907914 | F8 | c.6450T>A (p.Asp2150Glu) c.183T>A (p.Asp61Glu) c.45T>A (p.Asp15Glu) c.6345T>A (p.Asp2115Glu) | |
| X | g.154863208T>A | CA414907928 | F8 | c.6449A>T (p.Asp2150Val) c.182A>T (p.Asp61Val) c.44A>T (p.Asp15Val) c.6344A>T (p.Asp2115Val) | ClinVar |
| X | g.154863208T>C | CA414907931 | F8 | c.6449A>G (p.Asp2150Gly) c.182A>G (p.Asp61Gly) c.44A>G (p.Asp15Gly) c.6344A>G (p.Asp2115Gly) | |
| X | g.154863208T>G | CA414907934 | F8 | c.6449A>C (p.Asp2150Ala) c.182A>C (p.Asp61Ala) c.44A>C (p.Asp15Ala) c.6344A>C (p.Asp2115Ala) | |
| X | g.154863209C>A | CA414907946 | F8 | c.6448G>T (p.Asp2150Tyr) c.181G>T (p.Asp61Tyr) c.43G>T (p.Asp15Tyr) c.6343G>T (p.Asp2115Tyr) | |
| X | g.154863209C>G | CA414907948 | F8 | c.6448G>C (p.Asp2150His) c.181G>C (p.Asp61His) c.43G>C (p.Asp15His) c.6343G>C (p.Asp2115His) | |
| X | g.154863209C>T | CA414907951 | F8 | c.6448G>A (p.Asp2150Asn) c.181G>A (p.Asp61Asn) c.43G>A (p.Asp15Asn) c.6343G>A (p.Asp2115Asn) | |
| X | g.154863210C>A | CA519358012 | F8 | c.6447G>T (p.Val2149=) c.180G>T (p.Val60=) c.42G>T (p.Val14=) c.6342G>T (p.Val2114=) | |
| X | g.154863210C= | CA2466815685 | F8 | c.6447G= (p.Val2149=) c.180G= (p.Val60=) c.42G= (p.Val14=) c.6342G= (p.Val2114=) | |
| X | g.154863210C>G | CA519358013 | F8 | c.6447G>C (p.Val2149=) c.180G>C (p.Val60=) c.42G>C (p.Val14=) c.6342G>C (p.Val2114=) | |
| X | g.154863210C>T | CA519358014 | F8 | c.6447G>A (p.Val2149=) c.180G>A (p.Val60=) c.42G>A (p.Val14=) c.6342G>A (p.Val2114=) | dbSNP |
| X | g.154863211A>C | CA414907953 | F8 | c.6446T>G (p.Val2149Gly) c.179T>G (p.Val60Gly) c.41T>G (p.Val14Gly) c.6341T>G (p.Val2114Gly) | |
| X | g.154863211A>G | CA414907955 | F8 | c.6446T>C (p.Val2149Ala) c.179T>C (p.Val60Ala) c.41T>C (p.Val14Ala) c.6341T>C (p.Val2114Ala) | |
| X | g.154863211A>T | CA414907958 | F8 | c.6446T>A (p.Val2149Glu) c.179T>A (p.Val60Glu) c.41T>A (p.Val14Glu) c.6341T>A (p.Val2114Glu) | |
| X | g.154863212C>A | CA414907963 | F8 | c.6445G>T (p.Val2149Leu) c.178G>T (p.Val60Leu) c.40G>T (p.Val14Leu) c.6340G>T (p.Val2114Leu) | |
| X | g.154863212C>G | CA414907964 | F8 | c.6445G>C (p.Val2149Leu) c.178G>C (p.Val60Leu) c.40G>C (p.Val14Leu) c.6340G>C (p.Val2114Leu) | |
| X | g.154863212C>T | CA414907962 | F8 | c.6445G>A (p.Val2149Met) c.178G>A (p.Val60Met) c.40G>A (p.Val14Met) c.6340G>A (p.Val2114Met) | |
| X | g.154863213A= | CA2466815688 | F8 | c.6444T= (p.Asn2148=) c.177T= (p.Asn59=) c.39T= (p.Asn13=) c.6339T= (p.Asn2113=) | |
| X | g.154863213A>C | CA414907967 | F8 | c.6444T>G (p.Asn2148Lys) c.177T>G (p.Asn59Lys) c.39T>G (p.Asn13Lys) c.6339T>G (p.Asn2113Lys) | |
| X | g.154863213A>G | CA10567805 | F8 | c.6444T>C (p.Asn2148=) c.177T>C (p.Asn59=) c.39T>C (p.Asn13=) c.6339T>C (p.Asn2113=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154863213A>T | CA414907970 | F8 | c.6444T>A (p.Asn2148Lys) c.177T>A (p.Asn59Lys) c.39T>A (p.Asn13Lys) c.6339T>A (p.Asn2113Lys) | |
| X | g.154863214T>A | CA414907973 | F8 | c.6443A>T (p.Asn2148Ile) c.176A>T (p.Asn59Ile) c.38A>T (p.Asn13Ile) c.6338A>T (p.Asn2113Ile) | |
| X | g.154863214T>C | CA414907975 | F8 | c.6443A>G (p.Asn2148Ser) c.176A>G (p.Asn59Ser) c.38A>G (p.Asn13Ser) c.6338A>G (p.Asn2113Ser) | ClinVar dbSNP |
| X | g.154863214T>G | CA414907986 | F8 | c.6443A>C (p.Asn2148Thr) c.176A>C (p.Asn59Thr) c.38A>C (p.Asn13Thr) c.6338A>C (p.Asn2113Thr) | |
| X | g.154863214T= | CA2466815690 | F8 | c.6443A= (p.Asn2148=) c.176A= (p.Asn59=) c.38A= (p.Asn13=) c.6338A= (p.Asn2113=) | |
| X | g.154863215del | CA2695237182 | F8 | c.6443del (p.Asn2148MetfsTer7) c.176del (p.Asn59MetfsTer7) c.38del (p.Asn13MetfsTer7) c.6338del (p.Asn2113MetfsTer7) | |
| X | g.154863215T>A | CA414907990 | F8 | c.6442A>T (p.Asn2148Tyr) c.175A>T (p.Asn59Tyr) c.37A>T (p.Asn13Tyr) c.6337A>T (p.Asn2113Tyr) | |
| X | g.154863215T>C | CA414907995 | F8 | c.6442A>G (p.Asn2148Asp) c.175A>G (p.Asn59Asp) c.37A>G (p.Asn13Asp) c.6337A>G (p.Asn2113Asp) | |
| X | g.154863215T>G | CA414907999 | F8 | c.6442A>C (p.Asn2148His) c.175A>C (p.Asn59His) c.37A>C (p.Asn13His) c.6337A>C (p.Asn2113His) | |
| X | g.154863216G>A | CA519358022 | F8 | c.6441C>T (p.Gly2147=) c.174C>T (p.Gly58=) c.36C>T (p.Gly12=) c.6336C>T (p.Gly2112=) | |
| X | g.154863216G>C | CA519358024 | F8 | c.6441C>G (p.Gly2147=) c.174C>G (p.Gly58=) c.36C>G (p.Gly12=) c.6336C>G (p.Gly2112=) | |
| X | g.154863216G>T | CA519358026 | F8 | c.6441C>A (p.Gly2147=) c.174C>A (p.Gly58=) c.36C>A (p.Gly12=) c.6336C>A (p.Gly2112=) | |
| X | g.154863217C>A | CA414908004 | F8 | c.6440G>T (p.Gly2147Val) c.173G>T (p.Gly58Val) c.35G>T (p.Gly12Val) c.6335G>T (p.Gly2112Val) | |
| X | g.154863217C= | CA2466815693 | F8 | c.6440G= (p.Gly2147=) c.173G= (p.Gly58=) c.35G= (p.Gly12=) c.6335G= (p.Gly2112=) | |
| X | g.154863217C>G | CA414908007 | F8 | c.6440G>C (p.Gly2147Ala) c.173G>C (p.Gly58Ala) c.35G>C (p.Gly12Ala) c.6335G>C (p.Gly2112Ala) | |
| X | g.154863217C>T | CA414908008 | F8 | c.6440G>A (p.Gly2147Asp) c.173G>A (p.Gly58Asp) c.35G>A (p.Gly12Asp) c.6335G>A (p.Gly2112Asp) | dbSNP |
| X | g.154863218C>A | CA414908017 | F8 | c.6439G>T (p.Gly2147Cys) c.172G>T (p.Gly58Cys) c.34G>T (p.Gly12Cys) c.6334G>T (p.Gly2112Cys) | |
| X | g.154863218C>G | CA414908018 | F8 | c.6439G>C (p.Gly2147Arg) c.172G>C (p.Gly58Arg) c.34G>C (p.Gly12Arg) c.6334G>C (p.Gly2112Arg) | |
| X | g.154863218C>T | CA414908014 | F8 | c.6439G>A (p.Gly2147Ser) c.172G>A (p.Gly58Ser) c.34G>A (p.Gly12Ser) c.6334G>A (p.Gly2112Ser) | |
| X | g.154863218_154863248del | CA2695237183 | F8 | c.6430-21_6439del c.163-21_172del c.25-21_34del c.6325-21_6334del | |
| X | g.154863219A= | CA2466815695 | F8 | c.6438T= (p.Phe2146=) c.171T= (p.Phe57=) c.33T= (p.Phe11=) c.6333T= (p.Phe2111=) | |
| X | g.154863219A>C | CA414908021 | F8 | c.6438T>G (p.Phe2146Leu) c.171T>G (p.Phe57Leu) c.33T>G (p.Phe11Leu) c.6333T>G (p.Phe2111Leu) | |
| X | g.154863219A>G | CA10567806 | F8 | c.6438T>C (p.Phe2146=) c.171T>C (p.Phe57=) c.33T>C (p.Phe11=) c.6333T>C (p.Phe2111=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154863219A>T | CA414908026 | F8 | c.6438T>A (p.Phe2146Leu) c.171T>A (p.Phe57Leu) c.33T>A (p.Phe11Leu) c.6333T>A (p.Phe2111Leu) | |
| X | g.154863219_154863222delinsAAAG | CA2466815698 | F8 | c.6435_6438delinsCTTT (p.Phe2145=) c.168_171delinsCTTT (p.Phe56=) c.30_33delinsCTTT (p.Phe10=) c.6330_6333delinsCTTT (p.Phe2110=) | |
| X | g.154863220A= | CA2466815705 | F8 | c.6437T= (p.Phe2146=) c.170T= (p.Phe57=) c.32T= (p.Phe11=) c.6332T= (p.Phe2111=) | |
| X | g.154863220A>C | CA414908030 | F8 | c.6437T>G (p.Phe2146Cys) c.170T>G (p.Phe57Cys) c.32T>G (p.Phe11Cys) c.6332T>G (p.Phe2111Cys) | |
| X | g.154863220A>G | CA414908033 | F8 | c.6437T>C (p.Phe2146Ser) c.170T>C (p.Phe57Ser) c.32T>C (p.Phe11Ser) c.6332T>C (p.Phe2111Ser) | ClinVar dbSNP |
| X | g.154863220A>T | CA414908038 | F8 | c.6437T>A (p.Phe2146Tyr) c.170T>A (p.Phe57Tyr) c.32T>A (p.Phe11Tyr) c.6332T>A (p.Phe2111Tyr) | |
| X | g.154863224_154863226del | CA2466815706 | F8 | c.6435_6437del (p.Phe2146del) c.168_170del (p.Phe57del) c.30_32del (p.Phe11del) c.6330_6332del (p.Phe2111del) | dbSNP |
| X | g.154863221A>C | CA414908040 | F8 | c.6436T>G (p.Phe2146Val) c.169T>G (p.Phe57Val) c.31T>G (p.Phe11Val) c.6331T>G (p.Phe2111Val) | |
| X | g.154863221A>G | CA414908042 | F8 | c.6436T>C (p.Phe2146Leu) c.169T>C (p.Phe57Leu) c.31T>C (p.Phe11Leu) c.6331T>C (p.Phe2111Leu) | |
| X | g.154863221A>T | CA414908041 | F8 | c.6436T>A (p.Phe2146Ile) c.169T>A (p.Phe57Ile) c.31T>A (p.Phe11Ile) c.6331T>A (p.Phe2111Ile) | |
| X | g.154863222G>A | CA519358033 | F8 | c.6435C>T (p.Phe2145=) c.168C>T (p.Phe56=) c.30C>T (p.Phe10=) c.6330C>T (p.Phe2110=) | |
| X | g.154863222G>C | CA414908046 | F8 | c.6435C>G (p.Phe2145Leu) c.168C>G (p.Phe56Leu) c.30C>G (p.Phe10Leu) c.6330C>G (p.Phe2110Leu) | |
| X | g.154863222G>T | CA414908048 | F8 | c.6435C>A (p.Phe2145Leu) c.168C>A (p.Phe56Leu) c.30C>A (p.Phe10Leu) c.6330C>A (p.Phe2110Leu) | |
| X | g.154863222_154863223delinsGA | CA2466815708 | F8 | c.6434_6435delinsTC (p.Phe2145=) c.167_168delinsTC (p.Phe56=) c.29_30delinsTC (p.Phe10=) c.6329_6330delinsTC (p.Phe2110=) | |
| X | g.154863223A= | CA2466815710 | F8 | c.6434T= (p.Phe2145=) c.167T= (p.Phe56=) c.29T= (p.Phe10=) c.6329T= (p.Phe2110=) | |
| X | g.154863223A>C | CA414908053 | F8 | c.6434T>G (p.Phe2145Cys) c.167T>G (p.Phe56Cys) c.29T>G (p.Phe10Cys) c.6329T>G (p.Phe2110Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.154863223A>G | CA414908056 | F8 | c.6434T>C (p.Phe2145Ser) c.167T>C (p.Phe56Ser) c.29T>C (p.Phe10Ser) c.6329T>C (p.Phe2110Ser) | |
| X | g.154863223A>T | CA414908059 | F8 | c.6434T>A (p.Phe2145Tyr) c.167T>A (p.Phe56Tyr) c.29T>A (p.Phe10Tyr) c.6329T>A (p.Phe2110Tyr) | |
| X | g.154863224del | CA873369647 | F8 | c.6434del (p.Phe2145SerfsTer10) c.167del (p.Phe56SerfsTer10) c.29del (p.Phe10SerfsTer10) c.6329del (p.Phe2110SerfsTer10) | dbSNP |
| X | g.154863224A>C | CA414908061 | F8 | c.6433T>G (p.Phe2145Val) c.166T>G (p.Phe56Val) c.28T>G (p.Phe10Val) c.6328T>G (p.Phe2110Val) | |
| X | g.154863224A>G | CA414908065 | F8 | c.6433T>C (p.Phe2145Leu) c.166T>C (p.Phe56Leu) c.28T>C (p.Phe10Leu) c.6328T>C (p.Phe2110Leu) | COSMIC COSMIC |
| X | g.154863224A>T | CA414908060 | F8 | c.6433T>A (p.Phe2145Ile) c.166T>A (p.Phe56Ile) c.28T>A (p.Phe10Ile) c.6328T>A (p.Phe2110Ile) | |
| X | g.154863225G>A | CA519358037 | F8 | c.6432C>T (p.Val2144=) c.165C>T (p.Val55=) c.27C>T (p.Val9=) c.6327C>T (p.Val2109=) | |
| X | g.154863225G>C | CA519358038 | F8 | c.6432C>G (p.Val2144=) c.165C>G (p.Val55=) c.27C>G (p.Val9=) c.6327C>G (p.Val2109=) | |
| X | g.154863225G>T | CA519358039 | F8 | c.6432C>A (p.Val2144=) c.165C>A (p.Val55=) c.27C>A (p.Val9=) c.6327C>A (p.Val2109=) | |
| X | g.154863225_154863227del | CA2695238938 | F8 | c.6430_6432del (p.Val2144del) c.163_165del (p.Val55del) c.25_27del (p.Val9del) c.6325_6327del (p.Val2109del) | |
| X | g.154863226A>C | CA414908069 | F8 | c.6431T>G (p.Val2144Gly) c.164T>G (p.Val55Gly) c.26T>G (p.Val9Gly) c.6326T>G (p.Val2109Gly) | |
| X | g.154863226A>G | CA414908081 | F8 | c.6431T>C (p.Val2144Ala) c.164T>C (p.Val55Ala) c.26T>C (p.Val9Ala) c.6326T>C (p.Val2109Ala) | |
| X | g.154863226A>T | CA414908077 | F8 | c.6431T>A (p.Val2144Asp) c.164T>A (p.Val55Asp) c.26T>A (p.Val9Asp) c.6326T>A (p.Val2109Asp) | |
| X | g.154863227C>A | CA414908085 | F8 | c.6430G>T (p.Val2144Phe) c.163G>T (p.Val55Phe) c.25G>T (p.Val9Phe) c.6325G>T (p.Val2109Phe) | |
| X | g.154863227C>G | CA414908091 | F8 | c.6430G>C (p.Val2144Leu) c.163G>C (p.Val55Leu) c.25G>C (p.Val9Leu) c.6325G>C (p.Val2109Leu) | |
| X | g.154863227C>T | CA414908089 | F8 | c.6430G>A (p.Val2144Ile) c.163G>A (p.Val55Ile) c.25G>A (p.Val9Ile) c.6325G>A (p.Val2109Ile) | gnomAD v4 |
| X | g.154863228C>A | CA414908095 | F8 | c.6430-1G>T (n.6430-1G>T) c.163-1G>T (n.163-1G>T) c.25-1G>T (n.25-1G>T) c.6325-1G>T (n.6325-1G>T) | |
| X | g.154863228C>G | CA414908100 | F8 | c.6430-1G>C (n.6430-1G>C) c.163-1G>C (n.163-1G>C) c.25-1G>C (n.25-1G>C) c.6325-1G>C (n.6325-1G>C) | |
| X | g.154863228C>T | CA414908097 | F8 | c.6430-1G>A (n.6430-1G>A) c.163-1G>A (n.163-1G>A) c.25-1G>A (n.25-1G>A) c.6325-1G>A (n.6325-1G>A) | COSMIC COSMIC |
| X | g.154863228_154863231del | CA2695237184 | F8 | c.6430-4_6430-1del (n.6430-4_6430-1del) c.163-4_163-1del (n.163-4_163-1del) c.25-4_25-1del (n.25-4_25-1del) c.6325-4_6325-1del (n.6325-4_6325-1del) | |
| X | g.154863229T>A | CA414908101 | F8 | c.6430-2A>T (n.6430-2A>T) c.163-2A>T (n.163-2A>T) c.25-2A>T (n.25-2A>T) c.6325-2A>T (n.6325-2A>T) | dbSNP |
| X | g.154863229T>C | CA414908103 | F8 | c.6430-2A>G (n.6430-2A>G) c.163-2A>G (n.163-2A>G) c.25-2A>G (n.25-2A>G) c.6325-2A>G (n.6325-2A>G) | |
| X | g.154863229T>G | CA414908102 | F8 | c.6430-2A>C (n.6430-2A>C) c.163-2A>C (n.163-2A>C) c.25-2A>C (n.25-2A>C) c.6325-2A>C (n.6325-2A>C) | |
| X | g.154863229T= | CA2466815714 | F8 | c.6430-2A= (n.6430-2A=) c.163-2A= (n.163-2A=) c.25-2A= (n.25-2A=) c.6325-2A= (n.6325-2A=) | |
| X | g.154863230G>C | CA873369662 | F8 | c.6430-3C>G (n.6430-3C>G) c.163-3C>G (n.163-3C>G) c.25-3C>G (n.25-3C>G) c.6325-3C>G (n.6325-3C>G) | dbSNP |
| X | g.154863230G= | CA2466815717 | F8 | c.6430-3C= (n.6430-3C=) c.163-3C= (n.163-3C=) c.25-3C= (n.25-3C=) c.6325-3C= (n.6325-3C=) | |
| X | g.154863231T>G | CA2466815720 | F8 | c.6430-4A>C (n.6430-4A>C) c.163-4A>C (n.163-4A>C) c.25-4A>C (n.25-4A>C) c.6325-4A>C (n.6325-4A>C) | dbSNP |
| X | g.154863231T= | CA2466815719 | F8 | c.6430-4A= (n.6430-4A=) c.163-4A= (n.163-4A=) c.25-4A= (n.25-4A=) c.6325-4A= (n.6325-4A=) | |
| X | g.154863232A= | CA2466815722 | F8 | c.6430-5T= (n.6430-5T=) c.163-5T= (n.163-5T=) c.25-5T= (n.25-5T=) c.6325-5T= (n.6325-5T=) | |
| X | g.154863232A>G | CA10567807 | F8 | c.6430-5T>C (n.6430-5T>C) c.163-5T>C (n.163-5T>C) c.25-5T>C (n.25-5T>C) c.6325-5T>C (n.6325-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863233T>C | CA10567808 | F8 | c.6430-6A>G (n.6430-6A>G) c.163-6A>G (n.163-6A>G) c.25-6A>G (n.25-6A>G) c.6325-6A>G (n.6325-6A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863233T>G | CA645238724 | F8 | c.6430-6A>C (n.6430-6A>C) c.163-6A>C (n.163-6A>C) c.25-6A>C (n.25-6A>C) c.6325-6A>C (n.6325-6A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154863233T= | CA2466815724 | F8 | c.6430-6A= (n.6430-6A=) c.163-6A= (n.163-6A=) c.25-6A= (n.25-6A=) c.6325-6A= (n.6325-6A=) | |
| X | g.154863234G>A | CA2579752265 | F8 | c.6430-7C>T (n.6430-7C>T) c.163-7C>T (n.163-7C>T) c.25-7C>T (n.25-7C>T) c.6325-7C>T (n.6325-7C>T) | gnomAD v4 |
| X | g.154863235G>A | CA10567809 | F8 | c.6430-8C>T (n.6430-8C>T) c.163-8C>T (n.163-8C>T) c.25-8C>T (n.25-8C>T) c.6325-8C>T (n.6325-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154863235G>C | CA2695167951 | F8 | c.6430-8C>G (n.6430-8C>G) c.163-8C>G (n.163-8C>G) c.25-8C>G (n.25-8C>G) c.6325-8C>G (n.6325-8C>G) | gnomAD v4 |
| X | g.154863235G= | CA2466815728 | F8 | c.6430-8C= (n.6430-8C=) c.163-8C= (n.163-8C=) c.25-8C= (n.25-8C=) c.6325-8C= (n.6325-8C=) | |
| X | g.154863236_154863244del | CA2695237185 | F8 | c.6430-16_6430-8del (n.6430-16_6430-8del) c.163-16_163-8del (n.163-16_163-8del) c.25-16_25-8del (n.25-16_25-8del) c.6325-16_6325-8del (n.6325-16_6325-8del) | |
| X | g.154863237G>C | CA1138598434 | F8 | c.6430-10C>G (n.6430-10C>G) c.163-10C>G (n.163-10C>G) c.25-10C>G (n.25-10C>G) c.6325-10C>G (n.6325-10C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154863237G= | CA2466815731 | F8 | c.6430-10C= (n.6430-10C=) c.163-10C= (n.163-10C=) c.25-10C= (n.25-10C=) c.6325-10C= (n.6325-10C=) | |
| X | g.154863238A= | CA2466815734 | F8 | c.6430-11T= (n.6430-11T=) c.163-11T= (n.163-11T=) c.25-11T= (n.25-11T=) c.6325-11T= (n.6325-11T=) | |
| X | g.154863238A>T | CA1138598435 | F8 | c.6430-11T>A (n.6430-11T>A) c.163-11T>A (n.163-11T>A) c.25-11T>A (n.25-11T>A) c.6325-11T>A (n.6325-11T>A) | dbSNP gnomAD v3 gnomAD v4 |