| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70027915_70028027del | CA2499226812 | EDA | c.585_697del (p.Pro196ThrfsTer6) c.189_301del (p.Pro64ThrfsTer6) | ClinVar dbSNP |
| X | g.70027927_70027954delinsCCCAGGAATTCCAGGGATTCCTGGAATT | CA2435979575 | EDA | c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT (p.Pro199=) c.201_228delinsCCCAGGAATTCCAGGGATTCCTGGAATT (p.Pro67=) | |
| X | g.70027935_70027961del | CA915951152 | EDA | c.605_631del (p.Ile202_Gly210del) c.209_235del (p.Ile70_Gly78del) | ClinVar dbSNP |
| X | g.70027942_70027959del | CA16621472 | EDA | c.612_629del (p.Ile205_Gly210del) c.216_233del (p.Ile73_Gly78del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027932_70028016del | CA2821678339 | EDA | c.602_686del (p.Gly201ValfsTer?) c.206_290del (p.Gly69ValfsTer?) | |
| X | g.70027944_70028029del | CA2499226813 | EDA | c.614_699del (p.Ile205ThrfsTer6) c.218_303del (p.Ile73ThrfsTer6) | ClinVar dbSNP |
| X | g.70027948_70027956del | CA2693978770 | EDA | c.618_626del (p.Gly207_Pro209del) c.222_230del (p.Gly75_Pro77del) | gnomAD v4 |
| X | g.70027952A>C | CA413448366 | EDA | c.622A>C (p.Ile208Leu) c.226A>C (p.Ile76Leu) | |
| X | g.70027952A>G | CA413448367 | EDA | c.622A>G (p.Ile208Val) c.226A>G (p.Ile76Val) | |
| X | g.70027952A>T | CA413448368 | EDA | c.622A>T (p.Ile208Phe) c.226A>T (p.Ile76Phe) | |
| X | g.70027953T>A | CA413448369 | EDA | c.623T>A (p.Ile208Asn) c.227T>A (p.Ile76Asn) | |
| X | g.70027953T>C | CA413448371 | EDA | c.623T>C (p.Ile208Thr) c.227T>C (p.Ile76Thr) | gnomAD v4 |
| X | g.70027953T>G | CA413448370 | EDA | c.623T>G (p.Ile208Ser) c.227T>G (p.Ile76Ser) | |
| X | g.70027954T>A | CA517012727 | EDA | c.624T>A (p.Ile208=) c.228T>A (p.Ile76=) | |
| X | g.70027954T>C | CA517012726 | EDA | c.624T>C (p.Ile208=) c.228T>C (p.Ile76=) | |
| X | g.70027954T>G | CA413448372 | EDA | c.624T>G (p.Ile208Met) c.228T>G (p.Ile76Met) | |
| X | g.70027955C>A | CA413448375 | EDA | c.625C>A (p.Pro209Thr) c.229C>A (p.Pro77Thr) | gnomAD v4 |
| X | g.70027955C>G | CA413448373 | EDA | c.625C>G (p.Pro209Ala) c.229C>G (p.Pro77Ala) | |
| X | g.70027955C>T | CA413448374 | EDA | c.625C>T (p.Pro209Ser) c.229C>T (p.Pro77Ser) | ClinVar |
| X | g.70027956C>A | CA413448376 | EDA | c.626C>A (p.Pro209Gln) c.230C>A (p.Pro77Gln) | gnomAD v4 |
| X | g.70027956C= | CA2435979586 | EDA | c.626C= (p.Pro209=) c.230C= (p.Pro77=) | |
| X | g.70027956C>G | CA413448377 | EDA | c.626C>G (p.Pro209Arg) c.230C>G (p.Pro77Arg) | |
| X | g.70027956C>T | CA181048 | EDA | c.626C>T (p.Pro209Leu) c.230C>T (p.Pro77Leu) | ClinVar dbSNP |
| X | g.70027957A>C | CA517012728 | EDA | c.627A>C (p.Pro209=) c.231A>C (p.Pro77=) | |
| X | g.70027957A>G | CA517012730 | EDA | c.627A>G (p.Pro209=) c.231A>G (p.Pro77=) | |
| X | g.70027957A>T | CA517012729 | EDA | c.627A>T (p.Pro209=) c.231A>T (p.Pro77=) | |
| X | g.70027958G>A | CA413448378 | EDA | c.628G>A (p.Gly210Arg) c.232G>A (p.Gly78Arg) | ClinVar dbSNP |
| X | g.70027958G>C | CA413448379 | EDA | c.628G>C (p.Gly210Arg) c.232G>C (p.Gly78Arg) | ClinVar dbSNP |
| X | g.70027958G= | CA2435979587 | EDA | c.628G= (p.Gly210=) c.232G= (p.Gly78=) | |
| X | g.70027958G>T | CA413448380 | EDA | c.628G>T (p.Gly210Ter) c.232G>T (p.Gly78Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.70027959G>A | CA413448381 | EDA | c.629G>A (p.Gly210Glu) c.233G>A (p.Gly78Glu) | gnomAD v4 |
| X | g.70027959G>C | CA413448382 | EDA | c.629G>C (p.Gly210Ala) c.233G>C (p.Gly78Ala) | |
| X | g.70027959G>T | CA413448383 | EDA | c.629G>T (p.Gly210Val) c.233G>T (p.Gly78Val) | |
| X | g.70027960A>C | CA517012731 | EDA | c.630A>C (p.Gly210=) c.234A>C (p.Gly78=) | |
| X | g.70027960A>G | CA517012732 | EDA | c.630A>G (p.Gly210=) c.234A>G (p.Gly78=) | |
| X | g.70027960A>T | CA517012733 | EDA | c.630A>T (p.Gly210=) c.234A>T (p.Gly78=) | |
| X | g.70027961A>C | CA413448386 | EDA | c.631A>C (p.Thr211Pro) c.235A>C (p.Thr79Pro) | |
| X | g.70027961A>G | CA413448385 | EDA | c.631A>G (p.Thr211Ala) c.235A>G (p.Thr79Ala) | |
| X | g.70027961A>T | CA413448384 | EDA | c.631A>T (p.Thr211Ser) c.235A>T (p.Thr79Ser) | |
| X | g.70027962C>A | CA413448387 | EDA | c.632C>A (p.Thr211Lys) c.236C>A (p.Thr79Lys) | gnomAD v4 |
| X | g.70027962C>G | CA413448388 | EDA | c.632C>G (p.Thr211Arg) c.236C>G (p.Thr79Arg) | ClinVar dbSNP |
| X | g.70027962C>T | CA413448389 | EDA | c.632C>T (p.Thr211Ile) c.236C>T (p.Thr79Ile) | gnomAD v4 |
| X | g.70027963A>C | CA517012734 | EDA | c.633A>C (p.Thr211=) c.237A>C (p.Thr79=) | |
| X | g.70027963A>G | CA517012736 | EDA | c.633A>G (p.Thr211=) c.237A>G (p.Thr79=) | |
| X | g.70027963A>T | CA517012735 | EDA | c.633A>T (p.Thr211=) c.237A>T (p.Thr79=) | |
| X | g.70027964A= | CA2435979588 | EDA | c.634A= (p.Thr212=) c.238A= (p.Thr80=) | |
| X | g.70027964A>C | CA413448390 | EDA | c.634A>C (p.Thr212Pro) c.238A>C (p.Thr80Pro) | |
| X | g.70027964A>G | CA413448391 | EDA | c.634A>G (p.Thr212Ala) c.238A>G (p.Thr80Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027964A>T | CA413448392 | EDA | c.634A>T (p.Thr212Ser) c.238A>T (p.Thr80Ser) | |
| X | g.70027965C>A | CA10438968 | EDA | c.635C>A (p.Thr212Asn) c.239C>A (p.Thr80Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027965C= | CA2435979589 | EDA | c.635C= (p.Thr212=) c.239C= (p.Thr80=) | |
| X | g.70027965C>G | CA413448393 | EDA | c.635C>G (p.Thr212Ser) c.239C>G (p.Thr80Ser) | |
| X | g.70027965C>T | CA413448394 | EDA | c.635C>T (p.Thr212Ile) c.239C>T (p.Thr80Ile) | |
| X | g.70027966del | CA2695234206 | EDA | c.636del (p.Val213LeufsTer?) c.240del (p.Val81LeufsTer?) | |
| X | g.70027966T>A | CA517012737 | EDA | c.636T>A (p.Thr212=) c.240T>A (p.Thr80=) | ClinVar |
| X | g.70027966T>C | CA517012738 | EDA | c.636T>C (p.Thr212=) c.240T>C (p.Thr80=) | |
| X | g.70027966T>G | CA517012739 | EDA | c.636T>G (p.Thr212=) c.240T>G (p.Thr80=) | |
| X | g.70027967G>A | CA413448395 | EDA | c.637G>A (p.Val213Ile) c.241G>A (p.Val81Ile) | gnomAD v4 |
| X | g.70027967G>C | CA413448396 | EDA | c.637G>C (p.Val213Leu) c.241G>C (p.Val81Leu) | |
| X | g.70027967G>T | CA413448397 | EDA | c.637G>T (p.Val213Phe) c.241G>T (p.Val81Phe) | |
| X | g.70027968T>A | CA413448399 | EDA | c.638T>A (p.Val213Asp) c.242T>A (p.Val81Asp) | |
| X | g.70027968T>C | CA413448400 | EDA | c.638T>C (p.Val213Ala) c.242T>C (p.Val81Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027968T>G | CA413448398 | EDA | c.638T>G (p.Val213Gly) c.242T>G (p.Val81Gly) | |
| X | g.70027968T= | CA2435979590 | EDA | c.638T= (p.Val213=) c.242T= (p.Val81=) | |
| X | g.70027968_70027969dup | CA2693978771 | EDA | c.638_639dup (p.Met214LeufsTer?) c.242_243dup (p.Met82LeufsTer?) | gnomAD v4 |
| X | g.70027969del | CA2695234207 | EDA | c.639del (p.Met214TrpfsTer?) c.243del (p.Met82TrpfsTer?) | |
| X | g.70027969T>A | CA517012740 | EDA | c.639T>A (p.Val213=) c.243T>A (p.Val81=) | |
| X | g.70027969T>C | CA517012741 | EDA | c.639T>C (p.Val213=) c.243T>C (p.Val81=) | |
| X | g.70027969T>G | CA517012742 | EDA | c.639T>G (p.Val213=) c.243T>G (p.Val81=) | dbSNP |
| X | g.70027969T= | CA2435979591 | EDA | c.639T= (p.Val213=) c.243T= (p.Val81=) | |
| X | g.70027970A>C | CA413448401 | EDA | c.640A>C (p.Met214Leu) c.244A>C (p.Met82Leu) | |
| X | g.70027970A>G | CA413448402 | EDA | c.640A>G (p.Met214Val) c.244A>G (p.Met82Val) | gnomAD v4 |
| X | g.70027970A>T | CA413448403 | EDA | c.640A>T (p.Met214Leu) c.244A>T (p.Met82Leu) | gnomAD v4 |
| X | g.70027970dup | CA2695234208 | EDA | c.640dup (p.Met214AsnfsTer26) c.244dup (p.Met82AsnfsTer26) | |
| X | g.70027971T>A | CA413448404 | EDA | c.641T>A (p.Met214Lys) c.245T>A (p.Met82Lys) | ClinVar dbSNP |
| X | g.70027971T>C | CA413448405 | EDA | c.641T>C (p.Met214Thr) c.245T>C (p.Met82Thr) | |
| X | g.70027971T>G | CA413448406 | EDA | c.641T>G (p.Met214Arg) c.245T>G (p.Met82Arg) | |
| X | g.70027971T= | CA2435979592 | EDA | c.641T= (p.Met214=) c.245T= (p.Met82=) | |
| X | g.70027972G>A | CA413448407 | EDA | c.642G>A (p.Met214Ile) c.246G>A (p.Met82Ile) | |
| X | g.70027972G>C | CA413448408 | EDA | c.642G>C (p.Met214Ile) c.246G>C (p.Met82Ile) | |
| X | g.70027972G>T | CA413448409 | EDA | c.642G>T (p.Met214Ile) c.246G>T (p.Met82Ile) | |
| X | g.70027972_70028008delinsGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA | CA2435979593 | EDA | c.642_678delinsGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA (p.Met214=) c.246_282delinsGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA (p.Met82=) | |
| X | g.70027973G>A | CA413448410 | EDA | c.643G>A (p.Gly215Arg) c.247G>A (p.Gly83Arg) | |
| X | g.70027973G>C | CA413448411 | EDA | c.643G>C (p.Gly215Arg) c.247G>C (p.Gly83Arg) | |
| X | g.70027973G>T | CA413448412 | EDA | c.643G>T (p.Gly215Ter) c.247G>T (p.Gly83Ter) | ClinVar dbSNP |
| X | g.70027978_70028013del | CA10577173 | EDA | c.648_683del (p.Pro217_Pro228del) c.252_287del (p.Pro85_Pro96del) | ClinVar dbSNP |
| X | g.70027974G>A | CA413448415 | EDA | c.644G>A (p.Gly215Glu) c.248G>A (p.Gly83Glu) | ClinVar |
| X | g.70027974G>C | CA413448414 | EDA | c.644G>C (p.Gly215Ala) c.248G>C (p.Gly83Ala) | |
| X | g.70027974G>T | CA413448413 | EDA | c.644G>T (p.Gly215Val) c.248G>T (p.Gly83Val) | gnomAD v4 |
| X | g.70027975A>C | CA517012743 | EDA | c.645A>C (p.Gly215=) c.249A>C (p.Gly83=) | gnomAD v4 |
| X | g.70027975A>G | CA517012744 | EDA | c.645A>G (p.Gly215=) c.249A>G (p.Gly83=) | |
| X | g.70027975A>T | CA517012745 | EDA | c.645A>T (p.Gly215=) c.249A>T (p.Gly83=) | |
| X | g.70027976C>A | CA413448416 | EDA | c.646C>A (p.Pro216Thr) c.250C>A (p.Pro84Thr) | |
| X | g.70027976C= | CA2435979594 | EDA | c.646C= (p.Pro216=) c.250C= (p.Pro84=) | |
| X | g.70027976C>G | CA413448417 | EDA | c.646C>G (p.Pro216Ala) c.250C>G (p.Pro84Ala) | |
| X | g.70027976C>T | CA413448418 | EDA | c.646C>T (p.Pro216Ser) c.250C>T (p.Pro84Ser) | ClinVar dbSNP |
| X | g.70027978_70027995del | CA2695234209 | EDA | c.648_665del (p.Pro217_Pro222del) c.252_269del (p.Pro85_Pro90del) | |
| X | g.70027977C>A | CA413448419 | EDA | c.647C>A (p.Pro216Gln) c.251C>A (p.Pro84Gln) | |
| X | g.70027977C>G | CA413448420 | EDA | c.647C>G (p.Pro216Arg) c.251C>G (p.Pro84Arg) | |
| X | g.70027977C>T | CA413448421 | EDA | c.647C>T (p.Pro216Leu) c.251C>T (p.Pro84Leu) | |
| X | g.70027978A>C | CA517012746 | EDA | c.648A>C (p.Pro216=) c.252A>C (p.Pro84=) | |
| X | g.70027978A>G | CA517012747 | EDA | c.648A>G (p.Pro216=) c.252A>G (p.Pro84=) | |
| X | g.70027978A>T | CA517012748 | EDA | c.648A>T (p.Pro216=) c.252A>T (p.Pro84=) | |
| X | g.70027978_70027996delinsACCTGGTCCTCCAGGTCCT | CA2435979595 | EDA | c.648_666delinsACCTGGTCCTCCAGGTCCT (p.Pro216=) c.252_270delinsACCTGGTCCTCCAGGTCCT (p.Pro84=) | |
| X | g.70027979C>A | CA413448422 | EDA | c.649C>A (p.Pro217Thr) c.253C>A (p.Pro85Thr) | |
| X | g.70027979C= | CA2435979596 | EDA | c.649C= (p.Pro217=) c.253C= (p.Pro85=) | |
| X | g.70027979C>G | CA330952212 | EDA | c.649C>G (p.Pro217Ala) c.253C>G (p.Pro85Ala) | dbSNP gnomAD v4 |
| X | g.70027979C>T | CA413448423 | EDA | c.649C>T (p.Pro217Ser) c.253C>T (p.Pro85Ser) | |
| X | g.70027989_70028006del | CA10577176 | EDA | c.659_676del (p.Pro220_Pro225del) c.263_280del (p.Pro88_Pro93del) | ClinVar dbSNP |
| X | g.70027980C>A | CA413448424 | EDA | c.650C>A (p.Pro217His) c.254C>A (p.Pro85His) | COSMIC COSMIC |
| X | g.70027980C>G | CA413448425 | EDA | c.650C>G (p.Pro217Arg) c.254C>G (p.Pro85Arg) | |
| X | g.70027980C>T | CA413448426 | EDA | c.650C>T (p.Pro217Leu) c.254C>T (p.Pro85Leu) | |
| X | g.70027981T>A | CA517012749 | EDA | c.651T>A (p.Pro217=) c.255T>A (p.Pro85=) | |
| X | g.70027981T>C | CA517012750 | EDA | c.651T>C (p.Pro217=) c.255T>C (p.Pro85=) | |
| X | g.70027981T>G | CA517012751 | EDA | c.651T>G (p.Pro217=) c.255T>G (p.Pro85=) | |
| X | g.70027981_70027990delinsTGGTCCTCCA | CA2435979597 | EDA | c.651_660delinsTGGTCCTCCA (p.Pro217=) c.255_264delinsTGGTCCTCCA (p.Pro85=) | |
| X | g.70027982G>A | CA413448429 | EDA | c.652G>A (p.Gly218Ser) c.256G>A (p.Gly86Ser) | |
| X | g.70027982G>C | CA413448427 | EDA | c.652G>C (p.Gly218Arg) c.256G>C (p.Gly86Arg) | |
| X | g.70027982G>T | CA413448428 | EDA | c.652G>T (p.Gly218Cys) c.256G>T (p.Gly86Cys) | gnomAD v4 |
| X | g.70027990_70027998del | CA642473171 | EDA | c.660_668del (p.Gly221_Pro223del) c.264_272del (p.Gly89_Pro91del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027983G>A | CA413448430 | EDA | c.653G>A (p.Gly218Asp) c.257G>A (p.Gly86Asp) | |
| X | g.70027983G>C | CA413448431 | EDA | c.653G>C (p.Gly218Ala) c.257G>C (p.Gly86Ala) | |
| X | g.70027983G>T | CA413448432 | EDA | c.653G>T (p.Gly218Val) c.257G>T (p.Gly86Val) | |
| X | g.70027984T>A | CA517012752 | EDA | c.654T>A (p.Gly218=) c.258T>A (p.Gly86=) | |
| X | g.70027984T>C | CA517012753 | EDA | c.654T>C (p.Gly218=) c.258T>C (p.Gly86=) | |
| X | g.70027984T>G | CA517012754 | EDA | c.654T>G (p.Gly218=) c.258T>G (p.Gly86=) | |
| X | g.70027984_70028019delinsTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG | CA2435979598 | EDA | c.654_689delinsTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG (p.Gly218=) c.258_293delinsTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG (p.Gly86=) | |
| X | g.70027985C>A | CA413448433 | EDA | c.655C>A (p.Pro219Thr) c.259C>A (p.Pro87Thr) | gnomAD v4 |
| X | g.70027985C>G | CA413448434 | EDA | c.655C>G (p.Pro219Ala) c.259C>G (p.Pro87Ala) | |
| X | g.70027985C>T | CA413448435 | EDA | c.655C>T (p.Pro219Ser) c.259C>T (p.Pro87Ser) | gnomAD v4 COSMIC COSMIC |
| X | g.70027993_70028027del | CA261500 | EDA | c.663_697del (p.Pro222ThrfsTer6) c.267_301del (p.Pro90ThrfsTer6) | ClinVar dbSNP |
| X | g.70027986C>A | CA413448436 | EDA | c.656C>A (p.Pro219His) c.260C>A (p.Pro87His) | |
| X | g.70027986C>G | CA413448437 | EDA | c.656C>G (p.Pro219Arg) c.260C>G (p.Pro87Arg) | |
| X | g.70027986C>T | CA413448438 | EDA | c.656C>T (p.Pro219Leu) c.260C>T (p.Pro87Leu) | |
| X | g.70027987T>A | CA517012755 | EDA | c.657T>A (p.Pro219=) c.261T>A (p.Pro87=) | |
| X | g.70027987T>C | CA517012756 | EDA | c.657T>C (p.Pro219=) c.261T>C (p.Pro87=) | |
| X | g.70027987T>G | CA517012757 | EDA | c.657T>G (p.Pro219=) c.261T>G (p.Pro87=) | |
| X | g.70027988C>A | CA413448439 | EDA | c.658C>A (p.Pro220Thr) c.262C>A (p.Pro88Thr) | |
| X | g.70027988C= | CA2435979599 | EDA | c.658C= (p.Pro220=) c.262C= (p.Pro88=) | |
| X | g.70027988C>G | CA413448440 | EDA | c.658C>G (p.Pro220Ala) c.262C>G (p.Pro88Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027988C>T | CA413448441 | EDA | c.658C>T (p.Pro220Ser) c.262C>T (p.Pro88Ser) | |
| X | g.70027989C>A | CA413448442 | EDA | c.659C>A (p.Pro220Gln) c.263C>A (p.Pro88Gln) | gnomAD v4 |
| X | g.70027989C>G | CA413448443 | EDA | c.659C>G (p.Pro220Arg) c.263C>G (p.Pro88Arg) | |
| X | g.70027989C>T | CA413448444 | EDA | c.659C>T (p.Pro220Leu) c.263C>T (p.Pro88Leu) | ClinVar dbSNP |
| X | g.70027990A>C | CA517012758 | EDA | c.660A>C (p.Pro220=) c.264A>C (p.Pro88=) | |
| X | g.70027990A>G | CA517012759 | EDA | c.660A>G (p.Pro220=) c.264A>G (p.Pro88=) | gnomAD v4 |
| X | g.70027990A>T | CA517012760 | EDA | c.660A>T (p.Pro220=) c.264A>T (p.Pro88=) | |
| X | g.70027990_70027999delinsAGGTCCTCCT | CA2435979600 | EDA | c.660_669delinsAGGTCCTCCT (p.Pro220=) c.264_273delinsAGGTCCTCCT (p.Pro88=) | |
| X | g.70027993_70028010del | CA2695234210 | EDA | c.663_680del (p.Pro222_Gly227del) c.267_284del (p.Pro90_Gly95del) | |
| X | g.70027991G>A | CA413448447 | EDA | c.661G>A (p.Gly221Ser) c.265G>A (p.Gly89Ser) | |
| X | g.70027991G>C | CA413448446 | EDA | c.661G>C (p.Gly221Arg) c.265G>C (p.Gly89Arg) | |
| X | g.70027991G>T | CA413448445 | EDA | c.661G>T (p.Gly221Cys) c.265G>T (p.Gly89Cys) | gnomAD v4 |
| X | g.70027998_70028006del | CA877772593 | EDA | c.668_676del (p.Pro223_Pro225del) c.272_280del (p.Pro91_Pro93del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027992G>A | CA413448448 | EDA | c.662G>A (p.Gly221Asp) c.266G>A (p.Gly89Asp) | ClinVar gnomAD v4 |
| X | g.70027992G>C | CA413448449 | EDA | c.662G>C (p.Gly221Ala) c.266G>C (p.Gly89Ala) | |
| X | g.70027992G>T | CA413448450 | EDA | c.662G>T (p.Gly221Val) c.266G>T (p.Gly89Val) | |
| X | g.70027993T>A | CA517012761 | EDA | c.663T>A (p.Gly221=) c.267T>A (p.Gly89=) | |
| X | g.70027993T>C | CA517012762 | EDA | c.663T>C (p.Gly221=) c.267T>C (p.Gly89=) | |
| X | g.70027993T>G | CA517012763 | EDA | c.663T>G (p.Gly221=) c.267T>G (p.Gly89=) | |
| X | g.70027994C>A | CA413448451 | EDA | c.664C>A (p.Pro222Thr) c.268C>A (p.Pro90Thr) | |
| X | g.70027994C>G | CA413448452 | EDA | c.664C>G (p.Pro222Ala) c.268C>G (p.Pro90Ala) | |
| X | g.70027994C>T | CA413448453 | EDA | c.664C>T (p.Pro222Ser) c.268C>T (p.Pro90Ser) | |
| X | g.70027995C>A | CA413448454 | EDA | c.665C>A (p.Pro222His) c.269C>A (p.Pro90His) | |
| X | g.70027995C>G | CA413448455 | EDA | c.665C>G (p.Pro222Arg) c.269C>G (p.Pro90Arg) | |
| X | g.70027995C>T | CA413448456 | EDA | c.665C>T (p.Pro222Leu) c.269C>T (p.Pro90Leu) | COSMIC COSMIC |
| X | g.70027996T>A | CA517012764 | EDA | c.666T>A (p.Pro222=) c.270T>A (p.Pro90=) | |
| X | g.70027996T>C | CA517012765 | EDA | c.666T>C (p.Pro222=) c.270T>C (p.Pro90=) | |
| X | g.70027996T>G | CA517012766 | EDA | c.666T>G (p.Pro222=) c.270T>G (p.Pro90=) | |
| X | g.70027997C>A | CA413448457 | EDA | c.667C>A (p.Pro223Thr) c.271C>A (p.Pro91Thr) | |
| X | g.70027997C>G | CA413448458 | EDA | c.667C>G (p.Pro223Ala) c.271C>G (p.Pro91Ala) | |
| X | g.70027997C>T | CA413448459 | EDA | c.667C>T (p.Pro223Ser) c.271C>T (p.Pro91Ser) | |
| X | g.70027997_70028033delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT | CA2435979601 | EDA | c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT (p.Pro223=) c.271_307delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT (p.Pro91=) | |
| X | g.70027998C>A | CA413448460 | EDA | c.668C>A (p.Pro223His) c.272C>A (p.Pro91His) | gnomAD v4 |
| X | g.70027998C>G | CA413448462 | EDA | c.668C>G (p.Pro223Arg) c.272C>G (p.Pro91Arg) | |
| X | g.70027998C>T | CA413448461 | EDA | c.668C>T (p.Pro223Leu) c.272C>T (p.Pro91Leu) | |
| X | g.70028003_70028038del | CA916083963 | EDA | c.673_706+2del c.277_310+2del | ClinVar dbSNP |
| X | g.70027999del | CA2693978772 | EDA | c.669del (p.Gly224ValfsTer?) c.273del (p.Gly92ValfsTer?) | gnomAD v4 |
| X | g.70027999T>A | CA517012767 | EDA | c.669T>A (p.Pro223=) c.273T>A (p.Pro91=) | |
| X | g.70027999T>C | CA517012768 | EDA | c.669T>C (p.Pro223=) c.273T>C (p.Pro91=) | gnomAD v4 |
| X | g.70027999T>G | CA517012769 | EDA | c.669T>G (p.Pro223=) c.273T>G (p.Pro91=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027999T= | CA2435979602 | EDA | c.669T= (p.Pro223=) c.273T= (p.Pro91=) | |
| X | g.70028000G>A | CA413448463 | EDA | c.670G>A (p.Gly224Ser) c.274G>A (p.Gly92Ser) | gnomAD v4 |
| X | g.70028000G>C | CA413448464 | EDA | c.670G>C (p.Gly224Arg) c.274G>C (p.Gly92Arg) | ClinVar dbSNP |
| X | g.70028000G= | CA2435979603 | EDA | c.670G= (p.Gly224=) c.274G= (p.Gly92=) | |
| X | g.70028000G>T | CA413448465 | EDA | c.670G>T (p.Gly224Cys) c.274G>T (p.Gly92Cys) | |
| X | g.70028001G>A | CA413448466 | EDA | c.671G>A (p.Gly224Asp) c.275G>A (p.Gly92Asp) | |
| X | g.70028001G>C | CA255656 | EDA | c.671G>C (p.Gly224Ala) c.275G>C (p.Gly92Ala) | ClinVar dbSNP |
| X | g.70028001G= | CA2435979604 | EDA | c.671G= (p.Gly224=) c.275G= (p.Gly92=) | |
| X | g.70028001G>T | CA413448467 | EDA | c.671G>T (p.Gly224Val) c.275G>T (p.Gly92Val) | |
| X | g.70028002T>A | CA517012770 | EDA | c.672T>A (p.Gly224=) c.276T>A (p.Gly92=) | |
| X | g.70028002T>C | CA517012771 | EDA | c.672T>C (p.Gly224=) c.276T>C (p.Gly92=) | ClinVar gnomAD v4 |
| X | g.70028002T>G | CA517012772 | EDA | c.672T>G (p.Gly224=) c.276T>G (p.Gly92=) | |
| X | g.70028003C>A | CA413448468 | EDA | c.673C>A (p.Pro225Thr) c.277C>A (p.Pro93Thr) | gnomAD v4 |
| X | g.70028003C>G | CA413448469 | EDA | c.673C>G (p.Pro225Ala) c.277C>G (p.Pro93Ala) | |
| X | g.70028003C>T | CA413448470 | EDA | c.673C>T (p.Pro225Ser) c.277C>T (p.Pro93Ser) | |
| X | g.70028003_70028006delinsTCTT | CA2830782855 | EDA | c.673_676delinsTCTT (p.Pro225SerfsTer2) c.277_280delinsTCTT (p.Pro93SerfsTer2) | |
| X | g.70028004C>A | CA413448471 | EDA | c.674C>A (p.Pro225His) c.278C>A (p.Pro93His) | gnomAD v4 |
| X | g.70028004C>G | CA413448472 | EDA | c.674C>G (p.Pro225Arg) c.278C>G (p.Pro93Arg) | |
| X | g.70028004C>T | CA413448473 | EDA | c.674C>T (p.Pro225Leu) c.278C>T (p.Pro93Leu) | |
| X | g.70028005T>A | CA517012773 | EDA | c.675T>A (p.Pro225=) c.279T>A (p.Pro93=) | |
| X | g.70028005T>C | CA517012774 | EDA | c.675T>C (p.Pro225=) c.279T>C (p.Pro93=) | gnomAD v4 |
| X | g.70028005T>G | CA517012775 | EDA | c.675T>G (p.Pro225=) c.279T>G (p.Pro93=) | gnomAD v4 |
| X | g.70028006C>A | CA413448475 | EDA | c.676C>A (p.Gln226Lys) c.280C>A (p.Gln94Lys) | gnomAD v4 |
| X | g.70028006C= | CA2435979605 | EDA | c.676C= (p.Gln226=) c.280C= (p.Gln94=) | |
| X | g.70028006C>G | CA413448474 | EDA | c.676C>G (p.Gln226Glu) c.280C>G (p.Gln94Glu) | |
| X | g.70028006C>T | CA273141 | EDA | c.676C>T (p.Gln226Ter) c.280C>T (p.Gln94Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.70028006_70028025del | CA2830782856 | EDA | c.676_695del (p.Gln226GlyfsTer7) c.280_299del (p.Gln94GlyfsTer7) | |
| X | g.70028007A>C | CA413448476 | EDA | c.677A>C (p.Gln226Pro) c.281A>C (p.Gln94Pro) | |
| X | g.70028007A>G | CA413448477 | EDA | c.677A>G (p.Gln226Arg) c.281A>G (p.Gln94Arg) | |
| X | g.70028007A>T | CA413448478 | EDA | c.677A>T (p.Gln226Leu) c.281A>T (p.Gln94Leu) | |
| X | g.70028007_70028024delinsAAGGACCCCCTGGCCTCC | CA2435979606 | EDA | c.677_694delinsAAGGACCCCCTGGCCTCC (p.Gln226=) c.281_298delinsAAGGACCCCCTGGCCTCC (p.Gln94=) | |
| X | g.70028008A>C | CA413448479 | EDA | c.678A>C (p.Gln226His) c.282A>C (p.Gln94His) | |
| X | g.70028008A>G | CA517012776 | EDA | c.678A>G (p.Gln226=) c.282A>G (p.Gln94=) | |
| X | g.70028008A>T | CA413448480 | EDA | c.678A>T (p.Gln226His) c.282A>T (p.Gln94His) | gnomAD v4 |
| X | g.70028011_70028027del | CA658799777 | EDA | c.681_697del (p.Pro228ThrfsTer6) c.285_301del (p.Pro96ThrfsTer6) | ClinVar dbSNP |
| X | g.70028009G>A | CA413448481 | EDA | c.679G>A (p.Gly227Arg) c.283G>A (p.Gly95Arg) | gnomAD v4 |
| X | g.70028009G>C | CA413448482 | EDA | c.679G>C (p.Gly227Arg) c.283G>C (p.Gly95Arg) | |
| X | g.70028009G>T | CA413448483 | EDA | c.679G>T (p.Gly227Ter) c.283G>T (p.Gly95Ter) | gnomAD v4 |
| X | g.70028014_70028031del | CA2693978773 | EDA | c.684_701del (p.Pro229_Pro234del) c.288_305del (p.Pro97_Pro102del) | gnomAD v4 |
| X | g.70028010G>A | CA413448484 | EDA | c.680G>A (p.Gly227Glu) c.284G>A (p.Gly95Glu) | |
| X | g.70028010G>C | CA413448485 | EDA | c.680G>C (p.Gly227Ala) c.284G>C (p.Gly95Ala) | |
| X | g.70028010G>T | CA413448486 | EDA | c.680G>T (p.Gly227Val) c.284G>T (p.Gly95Val) | gnomAD v4 |
| X | g.70028011A= | CA2435979607 | EDA | c.681A= (p.Gly227=) c.285A= (p.Gly95=) | |
| X | g.70028011A>C | CA517012777 | EDA | c.681A>C (p.Gly227=) c.285A>C (p.Gly95=) | |
| X | g.70028011A>G | CA517012778 | EDA | c.681A>G (p.Gly227=) c.285A>G (p.Gly95=) | |
| X | g.70028011A>T | CA517012779 | EDA | c.681A>T (p.Gly227=) c.285A>T (p.Gly95=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70028012C>A | CA413448489 | EDA | c.682C>A (p.Pro228Thr) c.286C>A (p.Pro96Thr) | gnomAD v4 |
| X | g.70028012C= | CA2435979608 | EDA | c.682C= (p.Pro228=) c.286C= (p.Pro96=) | |
| X | g.70028012C>G | CA413448488 | EDA | c.682C>G (p.Pro228Ala) c.286C>G (p.Pro96Ala) | |
| X | g.70028012C>T | CA413448487 | EDA | c.682C>T (p.Pro228Ser) c.286C>T (p.Pro96Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70028012_70028013delinsA | CA2695234211 | EDA | c.682_683delinsA (p.Pro228ThrfsTer?) c.286_287delinsA (p.Pro96ThrfsTer?) | |
| X | g.70028016dup | CA915951153 | EDA | c.686dup (p.Gly230TrpfsTer10) c.290dup (p.Gly98TrpfsTer10) | ClinVar dbSNP |
| X | g.70028016del | CA2693978774 | EDA | c.686del (p.Pro229LeufsTer?) c.290del (p.Pro97LeufsTer?) | gnomAD v4 |
| X | g.70028013C>A | CA413448490 | EDA | c.683C>A (p.Pro228His) c.287C>A (p.Pro96His) | gnomAD v4 |
| X | g.70028013C= | CA2435979609 | EDA | c.683C= (p.Pro228=) c.287C= (p.Pro96=) | |
| X | g.70028013C>G | CA413448492 | EDA | c.683C>G (p.Pro228Arg) c.287C>G (p.Pro96Arg) | |
| X | g.70028013C>T | CA413448491 | EDA | c.683C>T (p.Pro228Leu) c.287C>T (p.Pro96Leu) | dbSNP gnomAD v2 |
| X | g.70028014C>A | CA517012780 | EDA | c.684C>A (p.Pro228=) c.288C>A (p.Pro96=) | dbSNP gnomAD v4 |
| X | g.70028014C= | CA2435979610 | EDA | c.684C= (p.Pro228=) c.288C= (p.Pro96=) | |
| X | g.70028014C>G | CA517012782 | EDA | c.684C>G (p.Pro228=) c.288C>G (p.Pro96=) | |
| X | g.70028014C>T | CA517012781 | EDA | c.684C>T (p.Pro228=) c.288C>T (p.Pro96=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70028015C>A | CA413448493 | EDA | c.685C>A (p.Pro229Thr) c.289C>A (p.Pro97Thr) | |
| X | g.70028015C>G | CA413448494 | EDA | c.685C>G (p.Pro229Ala) c.289C>G (p.Pro97Ala) | |
| X | g.70028015C>T | CA413448495 | EDA | c.685C>T (p.Pro229Ser) c.289C>T (p.Pro97Ser) | |
| X | g.70028016C>A | CA330952213 | EDA | c.686C>A (p.Pro229His) c.290C>A (p.Pro97His) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.70028016C= | CA2435979611 | EDA | c.686C= (p.Pro229=) c.290C= (p.Pro97=) | |
| X | g.70028016C>G | CA413448496 | EDA | c.686C>G (p.Pro229Arg) c.290C>G (p.Pro97Arg) | gnomAD v4 |
| X | g.70028016C>T | CA413448497 | EDA | c.686C>T (p.Pro229Leu) c.290C>T (p.Pro97Leu) | |
| X | g.70028017del | CA2695234212 | EDA | c.687del (p.Gly230AlafsTer?) c.291del (p.Gly98AlafsTer?) | |
| X | g.70028017T>A | CA517012783 | EDA | c.687T>A (p.Pro229=) c.291T>A (p.Pro97=) | |
| X | g.70028017T>C | CA517012784 | EDA | c.687T>C (p.Pro229=) c.291T>C (p.Pro97=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70028017T>G | CA517012785 | EDA | c.687T>G (p.Pro229=) c.291T>G (p.Pro97=) | |
| X | g.70028017T= | CA2435979612 | EDA | c.687T= (p.Pro229=) c.291T= (p.Pro97=) | |
| X | g.70028018G>A | CA413448498 | EDA | c.688G>A (p.Gly230Ser) c.292G>A (p.Gly98Ser) | |
| X | g.70028018G>C | CA413448499 | EDA | c.688G>C (p.Gly230Arg) c.292G>C (p.Gly98Arg) | |
| X | g.70028018G>T | CA413448500 | EDA | c.688G>T (p.Gly230Cys) c.292G>T (p.Gly98Cys) | gnomAD v4 |
| X | g.70028019G>A | CA413448501 | EDA | c.689G>A (p.Gly230Asp) c.293G>A (p.Gly98Asp) | gnomAD v4 |
| X | g.70028019G>C | CA413448502 | EDA | c.689G>C (p.Gly230Ala) c.293G>C (p.Gly98Ala) | |
| X | g.70028019G>T | CA413448503 | EDA | c.689G>T (p.Gly230Val) c.293G>T (p.Gly98Val) | gnomAD v4 |
| X | g.70028020C>A | CA517012786 | EDA | c.690C>A (p.Gly230=) c.294C>A (p.Gly98=) | gnomAD v4 |
| X | g.70028020C>G | CA517012787 | EDA | c.690C>G (p.Gly230=) c.294C>G (p.Gly98=) | |
| X | g.70028020C>T | CA517012788 | EDA | c.690C>T (p.Gly230=) c.294C>T (p.Gly98=) | |
| X | g.70028021C>A | CA413448506 | EDA | c.691C>A (p.Leu231Ile) c.295C>A (p.Leu99Ile) | gnomAD v4 |
| X | g.70028021C>G | CA413448504 | EDA | c.691C>G (p.Leu231Val) c.295C>G (p.Leu99Val) | |
| X | g.70028021C>T | CA413448505 | EDA | c.691C>T (p.Leu231Phe) c.295C>T (p.Leu99Phe) | gnomAD v4 |
| X | g.70028022T>A | CA413448507 | EDA | c.692T>A (p.Leu231His) c.296T>A (p.Leu99His) | |
| X | g.70028022T>C | CA413448508 | EDA | c.692T>C (p.Leu231Pro) c.296T>C (p.Leu99Pro) | |
| X | g.70028022T>G | CA413448509 | EDA | c.692T>G (p.Leu231Arg) c.296T>G (p.Leu99Arg) | |
| X | g.70028022_70028023delinsTC | CA2435979613 | EDA | c.692_693delinsTC (p.Leu231=) c.296_297delinsTC (p.Leu99=) | |
| X | g.70028023C>A | CA517012789 | EDA | c.693C>A (p.Leu231=) c.297C>A (p.Leu99=) | gnomAD v4 |
| X | g.70028023C>G | CA517012790 | EDA | c.693C>G (p.Leu231=) c.297C>G (p.Leu99=) | |
| X | g.70028023C>T | CA517012791 | EDA | c.693C>T (p.Leu231=) c.297C>T (p.Leu99=) | gnomAD v4 |
| X | g.70028024del | CA642473161 | EDA | c.694del (p.Gln232ArgfsTer?) c.298del (p.Gln100ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70028024C>A | CA413448510 | EDA | c.694C>A (p.Gln232Lys) c.298C>A (p.Gln100Lys) | gnomAD v4 |
| X | g.70028024C>G | CA413448511 | EDA | c.694C>G (p.Gln232Glu) c.298C>G (p.Gln100Glu) | |
| X | g.70028024C>T | CA413448512 | EDA | c.694C>T (p.Gln232Ter) c.298C>T (p.Gln100Ter) | gnomAD v4 COSMIC COSMIC |
| X | g.70028025A>C | CA413448513 | EDA | c.695A>C (p.Gln232Pro) c.299A>C (p.Gln100Pro) | |
| X | g.70028025A>G | CA413448514 | EDA | c.695A>G (p.Gln232Arg) c.299A>G (p.Gln100Arg) | gnomAD v4 |
| X | g.70028025A>T | CA413448515 | EDA | c.695A>T (p.Gln232Leu) c.299A>T (p.Gln100Leu) | gnomAD v4 |
| X | g.70028026G>A | CA517012792 | EDA | c.696G>A (p.Gln232=) c.300G>A (p.Gln100=) | |
| X | g.70028026G>C | CA413448516 | EDA | c.696G>C (p.Gln232His) c.300G>C (p.Gln100His) | gnomAD v4 |
| X | g.70028026G>T | CA413448517 | EDA | c.696G>T (p.Gln232His) c.300G>T (p.Gln100His) | gnomAD v4 COSMIC COSMIC |
| X | g.70028027G>A | CA413448520 | EDA | c.697G>A (p.Gly233Arg) c.301G>A (p.Gly101Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70028027G>C | CA413448519 | EDA | c.697G>C (p.Gly233Arg) c.301G>C (p.Gly101Arg) | |
| X | g.70028027G= | CA2435979614 | EDA | c.697G= (p.Gly233=) c.301G= (p.Gly101=) | |
| X | g.70028027G>T | CA413448518 | EDA | c.697G>T (p.Gly233Ter) c.301G>T (p.Gly101Ter) | gnomAD v4 |
| X | g.70028028G>A | CA413448521 | EDA | c.698G>A (p.Gly233Glu) c.302G>A (p.Gly101Glu) | COSMIC COSMIC |
| X | g.70028028G>C | CA413448522 | EDA | c.698G>C (p.Gly233Ala) c.302G>C (p.Gly101Ala) | |
| X | g.70028028G>T | CA413448523 | EDA | c.698G>T (p.Gly233Val) c.302G>T (p.Gly101Val) | gnomAD v4 |
| X | g.70028029A>C | CA517012795 | EDA | c.699A>C (p.Gly233=) c.303A>C (p.Gly101=) | |
| X | g.70028029A>G | CA517012794 | EDA | c.699A>G (p.Gly233=) c.303A>G (p.Gly101=) | |
| X | g.70028029A>T | CA517012793 | EDA | c.699A>T (p.Gly233=) c.303A>T (p.Gly101=) | |
| X | g.70028030C>A | CA413448524 | EDA | c.700C>A (p.Pro234Thr) c.304C>A (p.Pro102Thr) | gnomAD v4 |
| X | g.70028030C>G | CA413448525 | EDA | c.700C>G (p.Pro234Ala) c.304C>G (p.Pro102Ala) | |
| X | g.70028030C>T | CA413448526 | EDA | c.700C>T (p.Pro234Ser) c.304C>T (p.Pro102Ser) | |
| X | g.70028031C>A | CA413448527 | EDA | c.701C>A (p.Pro234His) c.305C>A (p.Pro102His) | gnomAD v4 |
| X | g.70028031C>G | CA413448528 | EDA | c.701C>G (p.Pro234Arg) c.305C>G (p.Pro102Arg) | gnomAD v4 |
| X | g.70028031C>T | CA413448529 | EDA | c.701C>T (p.Pro234Leu) c.305C>T (p.Pro102Leu) | |
| X | g.70028032T>A | CA517012796 | EDA | c.702T>A (p.Pro234=) c.306T>A (p.Pro102=) | gnomAD v4 |
| X | g.70028032T>C | CA517012798 | EDA | c.702T>C (p.Pro234=) c.306T>C (p.Pro102=) | |
| X | g.70028032T>G | CA517012797 | EDA | c.702T>G (p.Pro234=) c.306T>G (p.Pro102=) | |
| X | g.70028033T>A | CA413448530 | EDA | c.703T>A (p.Ser235Thr) c.307T>A (p.Ser103Thr) | |
| X | g.70028033T>C | CA413448531 | EDA | c.703T>C (p.Ser235Pro) c.307T>C (p.Ser103Pro) | gnomAD v4 |
| X | g.70028033T>G | CA413448532 | EDA | c.703T>G (p.Ser235Ala) c.307T>G (p.Ser103Ala) | |
| X | g.70028034C>A | CA413448534 | EDA | c.704C>A (p.Ser235Tyr) c.308C>A (p.Ser103Tyr) | gnomAD v4 |
| X | g.70028034C>G | CA413448535 | EDA | c.704C>G (p.Ser235Cys) c.308C>G (p.Ser103Cys) | |
| X | g.70028034C>T | CA413448533 | EDA | c.704C>T (p.Ser235Phe) c.308C>T (p.Ser103Phe) | |
| X | g.70028035T>A | CA517012799 | EDA | c.705T>A (p.Ser235=) c.309T>A (p.Ser103=) | |
| X | g.70028035T>C | CA517012800 | EDA | c.705T>C (p.Ser235=) c.309T>C (p.Ser103=) | gnomAD v4 |
| X | g.70028035T>G | CA10438969 | EDA | c.705T>G (p.Ser235=) c.309T>G (p.Ser103=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70028035T= | CA2435979615 | EDA | c.705T= (p.Ser235=) c.309T= (p.Ser103=) | |
| X | g.70028036G>A | CA413448536 | EDA | c.706G>A (p.Gly236Ser) c.310G>A (p.Gly104Ser) | ClinVar gnomAD v4 |
| X | g.70028036G>C | CA413448537 | EDA | c.706G>C (p.Gly236Arg) c.310G>C (p.Gly104Arg) | gnomAD v4 |
| X | g.70028036G>T | CA413448538 | EDA | c.706G>T (p.Gly236Cys) c.310G>T (p.Gly104Cys) | gnomAD v4 |
| X | g.70028037G>A | CA10588796 | EDA | c.706+1G>A (n.706+1G>A) c.310+1G>A (n.310+1G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.70028037G>C | CA413448540 | EDA | c.706+1G>C (n.706+1G>C) c.310+1G>C (n.310+1G>C) | ClinVar dbSNP |
| X | g.70028037G= | CA2435979616 | EDA | c.706+1G= (n.706+1G=) c.310+1G= (n.310+1G=) | |
| X | g.70028037G>T | CA413448539 | EDA | c.706+1G>T (n.706+1G>T) c.310+1G>T (n.310+1G>T) | |
| X | g.70028038T>A | CA413448541 | EDA | c.706+2T>A (n.706+2T>A) c.310+2T>A (n.310+2T>A) | |
| X | g.70028038T>C | CA10438970 | EDA | c.706+2T>C (n.706+2T>C) c.310+2T>C (n.310+2T>C) | dbSNP ExAC gnomAD v4 |
| X | g.70028038T>G | CA413448542 | EDA | c.706+2T>G (n.706+2T>G) c.310+2T>G (n.310+2T>G) | |
| X | g.70028038T= | CA2435979617 | EDA | c.706+2T= (n.706+2T=) c.310+2T= (n.310+2T=) | |
| X | g.70028039G>A | CA2693978775 | EDA | c.706+3G>A (n.706+3G>A) c.310+3G>A (n.310+3G>A) | gnomAD v4 |
| X | g.70028039G>T | CA2693978776 | EDA | c.706+3G>T (n.706+3G>T) c.310+3G>T (n.310+3G>T) | gnomAD v4 |
| X | g.70028041G>A | CA10438971 | EDA | c.706+5G>A (n.706+5G>A) c.310+5G>A (n.310+5G>A) | dbSNP ExAC gnomAD v2 |
| X | g.70028041G= | CA2435979618 | EDA | c.706+5G= (n.706+5G=) c.310+5G= (n.310+5G=) | |
| X | g.70028041G>T | CA915951154 | EDA | c.706+5G>T (n.706+5G>T) c.310+5G>T (n.310+5G>T) | ClinVar dbSNP |
| X | g.70028042T>C | CA2693978777 | EDA | c.706+6T>C (n.706+6T>C) c.310+6T>C (n.310+6T>C) | gnomAD v4 |
| X | g.70028043_70028045delinsTCC | CA2435979619 | EDA | c.706+7_706+9delinsTCC (n.706+7_706+9delinsTCC) c.310+7_310+9delinsTCC (n.310+7_310+9delinsTCC) | |
| X | g.70028044C>A | CA642473163 | EDA | c.706+8C>A (n.706+8C>A) c.310+8C>A (n.310+8C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70028044C= | CA2435979620 | EDA | c.706+8C= (n.706+8C=) c.310+8C= (n.310+8C=) | |
| X | g.70028044C>T | CA645619141 | EDA | c.706+8C>T (n.706+8C>T) c.310+8C>T (n.310+8C>T) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.70028046_70028047del | CA642473162 | EDA | c.706+10_706+11del (n.706+10_706+11del) c.310+10_310+11del (n.310+10_310+11del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70028045C>A | CA2693978778 | EDA | c.706+9C>A (n.706+9C>A) c.310+9C>A (n.310+9C>A) | gnomAD v4 |
| X | g.70028045C= | CA2435979621 | EDA | c.706+9C= (n.706+9C=) c.310+9C= (n.310+9C=) | |
| X | g.70028045C>T | CA10438972 | EDA | c.706+9C>T (n.706+9C>T) c.310+9C>T (n.310+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70028046C>A | CA2693978779 | EDA | c.706+10C>A (n.706+10C>A) c.310+10C>A (n.310+10C>A) | gnomAD v4 |
| X | g.70028046C>T | CA2693978780 | EDA | c.706+10C>T (n.706+10C>T) c.310+10C>T (n.310+10C>T) | gnomAD v4 |
| X | g.70028046_70028048delinsCCT | CA2435979622 | EDA | c.706+10_706+12delinsCCT (n.706+10_706+12delinsCCT) c.310+10_310+12delinsCCT (n.310+10_310+12delinsCCT) | |
| X | g.70028047C= | CA2435979624 | EDA | c.706+11C= (n.706+11C=) c.310+11C= (n.310+11C=) | |
| X | g.70028047C>G | CA330952214 | EDA | c.706+11C>G (n.706+11C>G) c.310+11C>G (n.310+11C>G) | dbSNP |
| X | g.70028047_70028048del | CA133751 | EDA | c.706+11_706+12del (n.706+11_706+12del) c.310+11_310+12del (n.310+11_310+12del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70028047_70028049delinsCTG | CA2435979623 | EDA | c.706+11_706+13delinsCTG (n.706+11_706+13delinsCTG) c.310+11_310+13delinsCTG (n.310+11_310+13delinsCTG) | |
| X | g.70028048T>C | CA330952215 | EDA | c.706+12T>C (n.706+12T>C) c.310+12T>C (n.310+12T>C) | dbSNP gnomAD v4 |
| X | g.70028048T= | CA2435979625 | EDA | c.706+12T= (n.706+12T=) c.310+12T= (n.310+12T=) | |
| X | g.70028049_70028050del | CA413448543 | EDA | c.706+13_706+14del (n.706+13_706+14del) c.310+13_310+14del (n.310+13_310+14del) | dbSNP |
| X | g.70028049G>A | CA642473164 | EDA | c.706+13G>A (n.706+13G>A) c.310+13G>A (n.310+13G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70028049G>C | CA330952216 | EDA | c.706+13G>C (n.706+13G>C) c.310+13G>C (n.310+13G>C) | ClinVar dbSNP |
| X | g.70028049G= | CA2435979626 | EDA | c.706+13G= (n.706+13G=) c.310+13G= (n.310+13G=) | |
| X | g.70028049_70028051del | CA2821678340 | EDA | c.706+13_706+15del (n.706+13_706+15del) c.310+13_310+15del (n.310+13_310+15del) | |
| X | g.70028050T>A | CA10438973 | EDA | c.706+14T>A (n.706+14T>A) c.310+14T>A (n.310+14T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70028050T>C | CA2697553199 | EDA | c.706+14T>C (n.706+14T>C) c.310+14T>C (n.310+14T>C) | ClinVar |
| X | g.70028050T= | CA2435979627 | EDA | c.706+14T= (n.706+14T=) c.310+14T= (n.310+14T=) | |
| X | g.70028051C>A | CA2693978781 | EDA | c.706+15C>A (n.706+15C>A) c.310+15C>A (n.310+15C>A) | gnomAD v4 |
| X | g.70028051C>T | CA2693978782 | EDA | c.706+15C>T (n.706+15C>T) c.310+15C>T (n.310+15C>T) | gnomAD v4 |
| X | g.70028052T>A | CA2821678341 | EDA | c.706+16T>A (n.706+16T>A) c.310+16T>A (n.310+16T>A) |