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 |
|---|---|---|---|---|---|
| 9 | g.127823973_127830053del | CA1139661202 | ENG | c.-327-226_588+331del c.220-226_1134+331del | ClinVar |
| 9 | g.127823973_127830815del | CA1139661203 | ENG | c.-327-988_588+331del c.220-988_1134+331del | ClinVar |
| 9 | g.127824679_127826283del | CA1139661205 | ENG | c.-24+229_445+123del c.523+229_991+123del | ClinVar |
| 9 | g.127824681_127830056del | CA1139661206 | ENG | c.-327-225_445+123del c.220-225_991+123del | ClinVar |
| 9 | g.127824709_127824895delinsGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGA | CA1879973147 | ENG | c.350_445+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC c.896_991+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC | |
| 9 | g.127824710_127824895del | CA658797291 | ENG | c.350_445+90del c.896_991+90del | ClinVar dbSNP |
| 9 | g.127824872_127824910del | CA913184987 | ENG | c.336_374del (p.Thr113_Asn125del) c.882_920del (p.Thr295_Asn307del) | ClinVar dbSNP |
| 9 | g.127824891dup | CA658656033 | ENG | c.358dup (p.Glu120GlyfsTer?) c.904dup (p.Glu302GlyfsTer?) | ClinVar dbSNP |
| 9 | g.127824890_127824891dup | CA2580617564 | ENG | c.357_358dup (p.Glu120GlyfsTer?) c.903_904dup (p.Glu302GlyfsTer?) | |
| 9 | g.127824891del | CA2691808696 | ENG | c.358del (p.Glu120ArgfsTer?) c.904del (p.Glu302ArgfsTer?) | gnomAD v4 |
| 9 | g.127824889_127824892delinsCCCA | CA1879973623 | ENG | c.353_356delinsTGGG (p.Leu118=) c.899_902delinsTGGG (p.Leu300=) | |
| 9 | g.127824890_127824892delinsG | CA1139661208 | ENG | c.353_355delinsC (p.Leu118ProfsTer?) c.899_901delinsC (p.Leu300ProfsTer?) | ClinVar dbSNP |
| 9 | g.127824891C>A | CA5252945 | ENG | c.354G>T (p.Leu118=) c.900G>T (p.Leu300=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824891C= | CA1879973645 | ENG | c.354G= (p.Leu118=) c.900G= (p.Leu300=) | |
| 9 | g.127824891C>G | CA467474578 | ENG | c.354G>C (p.Leu118=) c.900G>C (p.Leu300=) | |
| 9 | g.127824891C>T | CA5252944 | ENG | c.354G>A (p.Leu118=) c.900G>A (p.Leu300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824892A= | CA1879973653 | ENG | c.353T= (p.Leu118=) c.899T= (p.Leu300=) | |
| 9 | g.127824892A>C | CA374982449 | ENG | c.353T>G (p.Leu118Arg) c.899T>G (p.Leu300Arg) | dbSNP |
| 9 | g.127824892A>G | CA374982452 | ENG | c.353T>C (p.Leu118Pro) c.899T>C (p.Leu300Pro) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824892A>T | CA374982455 | ENG | c.353T>A (p.Leu118Gln) c.899T>A (p.Leu300Gln) | |
| 9 | g.127824893G>A | CA467474580 | ENG | c.352C>T (p.Leu118=) c.898C>T (p.Leu300=) | COSMIC COSMIC |
| 9 | g.127824893G>C | CA374982459 | ENG | c.352C>G (p.Leu118Val) c.898C>G (p.Leu300Val) | |
| 9 | g.127824893G>T | CA374982463 | ENG | c.352C>A (p.Leu118Met) c.898C>A (p.Leu300Met) | |
| 9 | g.127824894G>A | CA467474582 | ENG | c.351C>T (p.Leu117=) c.897C>T (p.Leu299=) | |
| 9 | g.127824894G>C | CA467474586 | ENG | c.351C>G (p.Leu117=) c.897C>G (p.Leu299=) | |
| 9 | g.127824894G>T | CA467474583 | ENG | c.351C>A (p.Leu117=) c.897C>A (p.Leu299=) | |
| 9 | g.127824895A= | CA1879973663 | ENG | c.350T= (p.Leu117=) c.896T= (p.Leu299=) | |
| 9 | g.127824895A>C | CA374982466 | ENG | c.350T>G (p.Leu117Arg) c.896T>G (p.Leu299Arg) | ClinVar dbSNP |
| 9 | g.127824895A>G | CA374982467 | ENG | c.350T>C (p.Leu117Pro) c.896T>C (p.Leu299Pro) | gnomAD v4 |
| 9 | g.127824895A>T | CA374982470 | ENG | c.350T>A (p.Leu117His) c.896T>A (p.Leu299His) | |
| 9 | g.127824895_127824896delinsAG | CA1879973661 | ENG | c.349_350delinsCT (p.Leu117=) c.895_896delinsCT (p.Leu299=) | |
| 9 | g.127824896G>A | CA374982477 | ENG | c.349C>T (p.Leu117Phe) c.895C>T (p.Leu299Phe) | |
| 9 | g.127824896G>C | CA374982480 | ENG | c.349C>G (p.Leu117Val) c.895C>G (p.Leu299Val) | ClinVar |
| 9 | g.127824896G>T | CA374982490 | ENG | c.349C>A (p.Leu117Ile) c.895C>A (p.Leu299Ile) | |
| 9 | g.127824897del | CA16618748 | ENG | c.349del (p.Leu117SerfsTer?) c.895del (p.Leu299SerfsTer?) | ClinVar dbSNP |
| 9 | g.127824897G>A | CA467474590 | ENG | c.348C>T (p.Gly116=) c.894C>T (p.Gly298=) | |
| 9 | g.127824897G>C | CA467474591 | ENG | c.348C>G (p.Gly116=) c.894C>G (p.Gly298=) | |
| 9 | g.127824897G>T | CA467474593 | ENG | c.348C>A (p.Gly116=) c.894C>A (p.Gly298=) | |
| 9 | g.127824898C>A | CA374982493 | ENG | c.347G>T (p.Gly116Val) c.893G>T (p.Gly298Val) | |
| 9 | g.127824898C>G | CA374982496 | ENG | c.347G>C (p.Gly116Ala) c.893G>C (p.Gly298Ala) | |
| 9 | g.127824898C>T | CA374982499 | ENG | c.347G>A (p.Gly116Asp) c.893G>A (p.Gly298Asp) | |
| 9 | g.127824899del | CA2695211265 | ENG | c.347del (p.Gly116AlafsTer?) c.893del (p.Gly298AlafsTer?) | |
| 9 | g.127824899C>A | CA374982502 | ENG | c.346G>T (p.Gly116Cys) c.892G>T (p.Gly298Cys) | |
| 9 | g.127824899C>G | CA374982503 | ENG | c.346G>C (p.Gly116Arg) c.892G>C (p.Gly298Arg) | |
| 9 | g.127824899C>T | CA374982504 | ENG | c.346G>A (p.Gly116Ser) c.892G>A (p.Gly298Ser) | COSMIC COSMIC |
| 9 | g.127824900T>A | CA374982508 | ENG | c.345A>T (p.Gln115His) c.891A>T (p.Gln297His) | |
| 9 | g.127824900T>C | CA5252946 | ENG | c.345A>G (p.Gln115=) c.891A>G (p.Gln297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824900T>G | CA374982509 | ENG | c.345A>C (p.Gln115His) c.891A>C (p.Gln297His) | |
| 9 | g.127824900T= | CA1879973671 | ENG | c.345A= (p.Gln115=) c.891A= (p.Gln297=) | |
| 9 | g.127824901T>A | CA374982512 | ENG | c.344A>T (p.Gln115Leu) c.890A>T (p.Gln297Leu) | |
| 9 | g.127824901T>C | CA374982514 | ENG | c.344A>G (p.Gln115Arg) c.890A>G (p.Gln297Arg) | |
| 9 | g.127824901T>G | CA5252947 | ENG | c.344A>C (p.Gln115Pro) c.890A>C (p.Gln297Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824901T= | CA1879973679 | ENG | c.344A= (p.Gln115=) c.890A= (p.Gln297=) | |
| 9 | g.127824902G>A | CA374982518 | ENG | c.343C>T (p.Gln115Ter) c.889C>T (p.Gln297Ter) | |
| 9 | g.127824902G>C | CA374982520 | ENG | c.343C>G (p.Gln115Glu) c.889C>G (p.Gln297Glu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824902G= | CA1879973686 | ENG | c.343C= (p.Gln115=) c.889C= (p.Gln297=) | |
| 9 | g.127824902G>T | CA374982522 | ENG | c.343C>A (p.Gln115Lys) c.889C>A (p.Gln297Lys) | |
| 9 | g.127824903A>C | CA467474606 | ENG | c.342T>G (p.Pro114=) c.888T>G (p.Pro296=) | |
| 9 | g.127824903A>G | CA467474607 | ENG | c.342T>C (p.Pro114=) c.888T>C (p.Pro296=) | |
| 9 | g.127824903A>T | CA467474604 | ENG | c.342T>A (p.Pro114=) c.888T>A (p.Pro296=) | |
| 9 | g.127824904G>A | CA374982526 | ENG | c.341C>T (p.Pro114Leu) c.887C>T (p.Pro296Leu) | |
| 9 | g.127824904G>C | CA374982528 | ENG | c.341C>G (p.Pro114Arg) c.887C>G (p.Pro296Arg) | |
| 9 | g.127824904G>T | CA374982529 | ENG | c.341C>A (p.Pro114His) c.887C>A (p.Pro296His) | |
| 9 | g.127824905del | CA2695211267 | ENG | c.341del (p.Pro114LeufsTer?) c.887del (p.Pro296LeufsTer?) | |
| 9 | g.127824905G>A | CA374982531 | ENG | c.340C>T (p.Pro114Ser) c.886C>T (p.Pro296Ser) | gnomAD v4 |
| 9 | g.127824905G>C | CA374982533 | ENG | c.340C>G (p.Pro114Ala) c.886C>G (p.Pro296Ala) | |
| 9 | g.127824905G>T | CA374982535 | ENG | c.340C>A (p.Pro114Thr) c.886C>A (p.Pro296Thr) | |
| 9 | g.127824909_127824910del | CA2580616313 | ENG | c.339_340del (p.Pro114SerfsTer?) c.885_886del (p.Pro296SerfsTer?) | ClinVar gnomAD v4 |
| 9 | g.127824906T>A | CA467474609 | ENG | c.339A>T (p.Thr113=) c.885A>T (p.Thr295=) | |
| 9 | g.127824906T>C | CA467474610 | ENG | c.339A>G (p.Thr113=) c.885A>G (p.Thr295=) | |
| 9 | g.127824906T>G | CA467474611 | ENG | c.339A>C (p.Thr113=) c.885A>C (p.Thr295=) | |
| 9 | g.127824907G>A | CA374982537 | ENG | c.338C>T (p.Thr113Ile) c.884C>T (p.Thr295Ile) | ClinVar dbSNP |
| 9 | g.127824907G>C | CA200313075 | ENG | c.338C>G (p.Thr113Arg) c.884C>G (p.Thr295Arg) | dbSNP |
| 9 | g.127824907G= | CA1879973698 | ENG | c.338C= (p.Thr113=) c.884C= (p.Thr295=) | |
| 9 | g.127824907G>T | CA374982540 | ENG | c.338C>A (p.Thr113Lys) c.884C>A (p.Thr295Lys) | |
| 9 | g.127824908T>A | CA374982542 | ENG | c.337A>T (p.Thr113Ser) c.883A>T (p.Thr295Ser) | |
| 9 | g.127824908T>C | CA374982545 | ENG | c.337A>G (p.Thr113Ala) c.883A>G (p.Thr295Ala) | |
| 9 | g.127824908T>G | CA374982544 | ENG | c.337A>C (p.Thr113Pro) c.883A>C (p.Thr295Pro) | |
| 9 | g.127824910_127824921del | CA2573143970 | ENG | c.326_337del (p.Lys109_Asp112del) c.872_883del (p.Lys291_Asp294del) | ClinVar dbSNP |
| 9 | g.127824909G>A | CA467474622 | ENG | c.336C>T (p.Asp112=) c.882C>T (p.Asp294=) | |
| 9 | g.127824909G>C | CA374982548 | ENG | c.336C>G (p.Asp112Glu) c.882C>G (p.Asp294Glu) | |
| 9 | g.127824909G>T | CA374982550 | ENG | c.336C>A (p.Asp112Glu) c.882C>A (p.Asp294Glu) | |
| 9 | g.127824909_127824911delinsGTC | CA1879973708 | ENG | c.334_336delinsGAC (p.Asp112=) c.880_882delinsGAC (p.Asp294=) | |
| 9 | g.127824910T>A | CA374982553 | ENG | c.335A>T (p.Asp112Val) c.881A>T (p.Asp294Val) | |
| 9 | g.127824910T>C | CA374982554 | ENG | c.335A>G (p.Asp112Gly) c.881A>G (p.Asp294Gly) | |
| 9 | g.127824910T>G | CA374982557 | ENG | c.335A>C (p.Asp112Ala) c.881A>C (p.Asp294Ala) | gnomAD v4 |
| 9 | g.127824911_127824912del | CA10604865 | ENG | c.334_335del (p.Asp112HisfsTer?) c.880_881del (p.Asp294HisfsTer?) | ClinVar dbSNP |
| 9 | g.127824911C>A | CA374982560 | ENG | c.334G>T (p.Asp112Tyr) c.880G>T (p.Asp294Tyr) | |
| 9 | g.127824911C>G | CA374982562 | ENG | c.334G>C (p.Asp112His) c.880G>C (p.Asp294His) | |
| 9 | g.127824911C>T | CA374982566 | ENG | c.334G>A (p.Asp112Asn) c.880G>A (p.Asp294Asn) | |
| 9 | g.127824912T>A | CA467474628 | ENG | c.333A>T (p.Pro111=) c.879A>T (p.Pro293=) | |
| 9 | g.127824912T>C | CA467474629 | ENG | c.333A>G (p.Pro111=) c.879A>G (p.Pro293=) | |
| 9 | g.127824912T>G | CA467474631 | ENG | c.333A>C (p.Pro111=) c.879A>C (p.Pro293=) | |
| 9 | g.127824913G>A | CA374982570 | ENG | c.332C>T (p.Pro111Leu) c.878C>T (p.Pro293Leu) | |
| 9 | g.127824913G>C | CA374982573 | ENG | c.332C>G (p.Pro111Arg) c.878C>G (p.Pro293Arg) | |
| 9 | g.127824913G>T | CA374982568 | ENG | c.332C>A (p.Pro111Gln) c.878C>A (p.Pro293Gln) | |
| 9 | g.127824915dup | CA2695211270 | ENG | c.332dup (p.Asp112ArgfsTer?) c.878dup (p.Asp294ArgfsTer?) | |
| 9 | g.127824915del | CA2580079640 | ENG | c.332del (p.Pro111GlnfsTer?) c.878del (p.Pro293GlnfsTer?) | ClinVar |
| 9 | g.127824914G>A | CA374982576 | ENG | c.331C>T (p.Pro111Ser) c.877C>T (p.Pro293Ser) | gnomAD v4 |
| 9 | g.127824914G>C | CA374982578 | ENG | c.331C>G (p.Pro111Ala) c.877C>G (p.Pro293Ala) | |
| 9 | g.127824914G>T | CA374982580 | ENG | c.331C>A (p.Pro111Thr) c.877C>A (p.Pro293Thr) | |
| 9 | g.127824915G>A | CA467474634 | ENG | c.330C>T (p.Leu110=) c.876C>T (p.Leu292=) | |
| 9 | g.127824915G>C | CA467474637 | ENG | c.330C>G (p.Leu110=) c.876C>G (p.Leu292=) | |
| 9 | g.127824915G>T | CA467474636 | ENG | c.330C>A (p.Leu110=) c.876C>A (p.Leu292=) | |
| 9 | g.127824916A>C | CA374982583 | ENG | c.329T>G (p.Leu110Arg) c.875T>G (p.Leu292Arg) | |
| 9 | g.127824916A>G | CA374982586 | ENG | c.329T>C (p.Leu110Pro) c.875T>C (p.Leu292Pro) | |
| 9 | g.127824916A>T | CA374982588 | ENG | c.329T>A (p.Leu110His) c.875T>A (p.Leu292His) | |
| 9 | g.127824916dup | CA2580079641 | ENG | c.329dup (p.Asp112ArgfsTer?) c.875dup (p.Asp294ArgfsTer?) | ClinVar |
| 9 | g.127824917G>A | CA374982595 | ENG | c.328C>T (p.Leu110Phe) c.874C>T (p.Leu292Phe) | |
| 9 | g.127824917G>C | CA374982591 | ENG | c.328C>G (p.Leu110Val) c.874C>G (p.Leu292Val) | |
| 9 | g.127824917G>T | CA374982592 | ENG | c.328C>A (p.Leu110Ile) c.874C>A (p.Leu292Ile) | |
| 9 | g.127824917_127824919delinsA | CA2580079642 | ENG | c.326_328delinsT (p.Lys109IlefsTer?) c.872_874delinsT (p.Lys291IlefsTer?) | ClinVar |
| 9 | g.127824918C>A | CA374982597 | ENG | c.327G>T (p.Lys109Asn) c.873G>T (p.Lys291Asn) | |
| 9 | g.127824918C>G | CA374982600 | ENG | c.327G>C (p.Lys109Asn) c.873G>C (p.Lys291Asn) | |
| 9 | g.127824918C>T | CA467474645 | ENG | c.327G>A (p.Lys109=) c.873G>A (p.Lys291=) | |
| 9 | g.127824919T>A | CA374982604 | ENG | c.326A>T (p.Lys109Met) c.872A>T (p.Lys291Met) | |
| 9 | g.127824919T>C | CA374982605 | ENG | c.326A>G (p.Lys109Arg) c.872A>G (p.Lys291Arg) | |
| 9 | g.127824919T>G | CA374982608 | ENG | c.326A>C (p.Lys109Thr) c.872A>C (p.Lys291Thr) | |
| 9 | g.127824920T>A | CA374982612 | ENG | c.325A>T (p.Lys109Ter) c.871A>T (p.Lys291Ter) | |
| 9 | g.127824920T>C | CA5252948 | ENG | c.325A>G (p.Lys109Glu) c.871A>G (p.Lys291Glu) | dbSNP ExAC gnomAD v4 |
| 9 | g.127824920T>G | CA374982613 | ENG | c.325A>C (p.Lys109Gln) c.871A>C (p.Lys291Gln) | |
| 9 | g.127824920T= | CA1879973717 | ENG | c.325A= (p.Lys109=) c.871A= (p.Lys291=) | |
| 9 | g.127824921G>A | CA467474653 | ENG | c.324C>T (p.Phe108=) c.870C>T (p.Phe290=) | ClinVar dbSNP |
| 9 | g.127824921G>C | CA374982617 | ENG | c.324C>G (p.Phe108Leu) c.870C>G (p.Phe290Leu) | |
| 9 | g.127824921G= | CA1879973728 | ENG | c.324C= (p.Phe108=) c.870C= (p.Phe290=) | |
| 9 | g.127824921G>T | CA374982618 | ENG | c.324C>A (p.Phe108Leu) c.870C>A (p.Phe290Leu) | |
| 9 | g.127824922A>C | CA374982622 | ENG | c.323T>G (p.Phe108Cys) c.869T>G (p.Phe290Cys) | |
| 9 | g.127824922A>G | CA374982624 | ENG | c.323T>C (p.Phe108Ser) c.869T>C (p.Phe290Ser) | |
| 9 | g.127824922A>T | CA374982627 | ENG | c.323T>A (p.Phe108Tyr) c.869T>A (p.Phe290Tyr) | |
| 9 | g.127824923A>C | CA374982629 | ENG | c.322T>G (p.Phe108Val) c.868T>G (p.Phe290Val) | |
| 9 | g.127824923A>G | CA374982631 | ENG | c.322T>C (p.Phe108Leu) c.868T>C (p.Phe290Leu) | |
| 9 | g.127824923A>T | CA374982633 | ENG | c.322T>A (p.Phe108Ile) c.868T>A (p.Phe290Ile) | |
| 9 | g.127824924G>A | CA467474660 | ENG | c.321C>T (p.Gly107=) c.867C>T (p.Gly289=) | ClinVar dbSNP |
| 9 | g.127824924G>C | CA467474661 | ENG | c.321C>G (p.Gly107=) c.867C>G (p.Gly289=) | |
| 9 | g.127824924G>T | CA467474659 | ENG | c.321C>A (p.Gly107=) c.867C>A (p.Gly289=) | gnomAD v4 |
| 9 | g.127824925_127824929dup | CA2499219640 | ENG | c.317_321dup (p.Phe108ValfsTer?) c.863_867dup (p.Phe290ValfsTer?) | ClinVar dbSNP |
| 9 | g.127824925C>A | CA374982635 | ENG | c.320G>T (p.Gly107Val) c.866G>T (p.Gly289Val) | |
| 9 | g.127824925C= | CA1879973733 | ENG | c.320G= (p.Gly107=) c.866G= (p.Gly289=) | |
| 9 | g.127824925C>G | CA374982636 | ENG | c.320G>C (p.Gly107Ala) c.866G>C (p.Gly289Ala) | |
| 9 | g.127824925C>T | CA374982638 | ENG | c.320G>A (p.Gly107Asp) c.866G>A (p.Gly289Asp) | ClinVar dbSNP |
| 9 | g.127824926C>A | CA374982643 | ENG | c.319G>T (p.Gly107Cys) c.865G>T (p.Gly289Cys) | |
| 9 | g.127824926C>G | CA374982642 | ENG | c.319G>C (p.Gly107Arg) c.865G>C (p.Gly289Arg) | |
| 9 | g.127824926C>T | CA374982640 | ENG | c.319G>A (p.Gly107Ser) c.865G>A (p.Gly289Ser) | |
| 9 | g.127824927A>C | CA467474668 | ENG | c.318T>G (p.Arg106=) c.864T>G (p.Arg288=) | |
| 9 | g.127824927A>G | CA467474669 | ENG | c.318T>C (p.Arg106=) c.864T>C (p.Arg288=) | |
| 9 | g.127824927A>T | CA467474672 | ENG | c.318T>A (p.Arg106=) c.864T>A (p.Arg288=) | |
| 9 | g.127824928C>A | CA374982644 | ENG | c.317G>T (p.Arg106Leu) c.863G>T (p.Arg288Leu) | |
| 9 | g.127824928C= | CA1879973744 | ENG | c.317G= (p.Arg106=) c.863G= (p.Arg288=) | |
| 9 | g.127824928C>G | CA374982646 | ENG | c.317G>C (p.Arg106Pro) c.863G>C (p.Arg288Pro) | gnomAD v4 |
| 9 | g.127824928C>T | CA5252949 | ENG | c.317G>A (p.Arg106His) c.863G>A (p.Arg288His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824929G>A | CA5252950 | ENG | c.316C>T (p.Arg106Cys) c.862C>T (p.Arg288Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.127824929G>C | CA374982649 | ENG | c.316C>G (p.Arg106Gly) c.862C>G (p.Arg288Gly) | |
| 9 | g.127824929G= | CA1879973755 | ENG | c.316C= (p.Arg106=) c.862C= (p.Arg288=) | |
| 9 | g.127824929G>T | CA374982655 | ENG | c.316C>A (p.Arg106Ser) c.862C>A (p.Arg288Ser) | gnomAD v4 |
| 9 | g.127824930A>C | CA374982657 | ENG | c.315T>G (p.Ile105Met) c.861T>G (p.Ile287Met) | |
| 9 | g.127824930A>G | CA467474679 | ENG | c.315T>C (p.Ile105=) c.861T>C (p.Ile287=) | |
| 9 | g.127824930A>T | CA467474680 | ENG | c.315T>A (p.Ile105=) c.861T>A (p.Ile287=) | |
| 9 | g.127824931A>C | CA374982658 | ENG | c.314T>G (p.Ile105Ser) c.860T>G (p.Ile287Ser) | |
| 9 | g.127824931A>G | CA374982660 | ENG | c.314T>C (p.Ile105Thr) c.860T>C (p.Ile287Thr) | |
| 9 | g.127824931A>T | CA374982662 | ENG | c.314T>A (p.Ile105Asn) c.860T>A (p.Ile287Asn) | |
| 9 | g.127824932T>A | CA374982664 | ENG | c.313A>T (p.Ile105Phe) c.859A>T (p.Ile287Phe) | |
| 9 | g.127824932T>C | CA374982666 | ENG | c.313A>G (p.Ile105Val) c.859A>G (p.Ile287Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824932T>G | CA374982668 | ENG | c.313A>C (p.Ile105Leu) c.859A>C (p.Ile287Leu) | |
| 9 | g.127824932T= | CA1879973759 | ENG | c.313A= (p.Ile105=) c.859A= (p.Ile287=) | |
| 9 | g.127824933G>A | CA467474690 | ENG | c.312C>T (p.Asn104=) c.858C>T (p.Asn286=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824933G>C | CA374982672 | ENG | c.312C>G (p.Asn104Lys) c.858C>G (p.Asn286Lys) | |
| 9 | g.127824933G= | CA1879973764 | ENG | c.312C= (p.Asn104=) c.858C= (p.Asn286=) | |
| 9 | g.127824933G>T | CA374982674 | ENG | c.312C>A (p.Asn104Lys) c.858C>A (p.Asn286Lys) | |
| 9 | g.127824934T>A | CA374982681 | ENG | c.311A>T (p.Asn104Ile) c.857A>T (p.Asn286Ile) | |
| 9 | g.127824934T>C | CA374982679 | ENG | c.311A>G (p.Asn104Ser) c.857A>G (p.Asn286Ser) | |
| 9 | g.127824934T>G | CA374982676 | ENG | c.311A>C (p.Asn104Thr) c.857A>C (p.Asn286Thr) | |
| 9 | g.127824938del | CA467474695 | ENG | c.311del (p.Asn104ThrfsTer?) c.857del (p.Asn286ThrfsTer?) | COSMIC |
| 9 | g.127824935T>A | CA374982682 | ENG | c.310A>T (p.Asn104Tyr) c.856A>T (p.Asn286Tyr) | |
| 9 | g.127824935T>C | CA374982684 | ENG | c.310A>G (p.Asn104Asp) c.856A>G (p.Asn286Asp) | |
| 9 | g.127824935T>G | CA374982686 | ENG | c.310A>C (p.Asn104His) c.856A>C (p.Asn286His) | |
| 9 | g.127824936T>A | CA374982688 | ENG | c.309A>T (p.Lys103Asn) c.855A>T (p.Lys285Asn) | |
| 9 | g.127824936T>C | CA467474703 | ENG | c.309A>G (p.Lys103=) c.855A>G (p.Lys285=) | |
| 9 | g.127824936T>G | CA374982690 | ENG | c.309A>C (p.Lys103Asn) c.855A>C (p.Lys285Asn) | |
| 9 | g.127824937T>A | CA374982693 | ENG | c.308A>T (p.Lys103Ile) c.854A>T (p.Lys285Ile) | |
| 9 | g.127824937T>C | CA374982694 | ENG | c.308A>G (p.Lys103Arg) c.854A>G (p.Lys285Arg) | ClinVar gnomAD v4 |
| 9 | g.127824937T>G | CA374982696 | ENG | c.308A>C (p.Lys103Thr) c.854A>C (p.Lys285Thr) | |
| 9 | g.127824938T>A | CA374982699 | ENG | c.307A>T (p.Lys103Ter) c.853A>T (p.Lys285Ter) | |
| 9 | g.127824938T>C | CA374982701 | ENG | c.307A>G (p.Lys103Glu) c.853A>G (p.Lys285Glu) | gnomAD v4 |
| 9 | g.127824938T>G | CA374982703 | ENG | c.307A>C (p.Lys103Gln) c.853A>C (p.Lys285Gln) | |
| 9 | g.127824939C>A | CA374982706 | ENG | c.306G>T (p.Glu102Asp) c.852G>T (p.Glu284Asp) | COSMIC |
| 9 | g.127824939C>G | CA374982709 | ENG | c.306G>C (p.Glu102Asp) c.852G>C (p.Glu284Asp) | |
| 9 | g.127824939C>T | CA467474710 | ENG | c.306G>A (p.Glu102=) c.852G>A (p.Glu284=) | |
| 9 | g.127824940del | CA2573143972 | ENG | c.305del (p.Glu102GlyfsTer?) c.851del (p.Glu284GlyfsTer?) | ClinVar dbSNP |
| 9 | g.127824940T>A | CA374982713 | ENG | c.305A>T (p.Glu102Val) c.851A>T (p.Glu284Val) | |
| 9 | g.127824940T>C | CA374982715 | ENG | c.305A>G (p.Glu102Gly) c.851A>G (p.Glu284Gly) | |
| 9 | g.127824940T>G | CA374982712 | ENG | c.305A>C (p.Glu102Ala) c.851A>C (p.Glu284Ala) | |
| 9 | g.127824941C>A | CA374982719 | ENG | c.304G>T (p.Glu102Ter) c.850G>T (p.Glu284Ter) | |
| 9 | g.127824941C= | CA1879973769 | ENG | c.304G= (p.Glu102=) c.850G= (p.Glu284=) | |
| 9 | g.127824941C>G | CA374982722 | ENG | c.304G>C (p.Glu102Gln) c.850G>C (p.Glu284Gln) | |
| 9 | g.127824941C>T | CA5252951 | ENG | c.304G>A (p.Glu102Lys) c.850G>A (p.Glu284Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824942T>A | CA467474723 | ENG | c.303A>T (p.Pro101=) c.849A>T (p.Pro283=) | |
| 9 | g.127824942T>C | CA467474725 | ENG | c.303A>G (p.Pro101=) c.849A>G (p.Pro283=) | dbSNP gnomAD v4 |
| 9 | g.127824942T>G | CA467474727 | ENG | c.303A>C (p.Pro101=) c.849A>C (p.Pro283=) | gnomAD v4 |
| 9 | g.127824942T= | CA1879973775 | ENG | c.303A= (p.Pro101=) c.849A= (p.Pro283=) | |
| 9 | g.127824943G>A | CA374982727 | ENG | c.302C>T (p.Pro101Leu) c.848C>T (p.Pro283Leu) | |
| 9 | g.127824943G>C | CA374982729 | ENG | c.302C>G (p.Pro101Arg) c.848C>G (p.Pro283Arg) | |
| 9 | g.127824943G>T | CA374982731 | ENG | c.302C>A (p.Pro101Gln) c.848C>A (p.Pro283Gln) | |
| 9 | g.127824944G>A | CA374982735 | ENG | c.301C>T (p.Pro101Ser) c.847C>T (p.Pro283Ser) | |
| 9 | g.127824944G>C | CA374982737 | ENG | c.301C>G (p.Pro101Ala) c.847C>G (p.Pro283Ala) | |
| 9 | g.127824944G>T | CA374982739 | ENG | c.301C>A (p.Pro101Thr) c.847C>A (p.Pro283Thr) | |
| 9 | g.127824945A>C | CA374982742 | ENG | c.300T>G (p.Phe100Leu) c.846T>G (p.Phe282Leu) | |
| 9 | g.127824945A>G | CA467474732 | ENG | c.300T>C (p.Phe100=) c.846T>C (p.Phe282=) | |
| 9 | g.127824945A>T | CA374982743 | ENG | c.300T>A (p.Phe100Leu) c.846T>A (p.Phe282Leu) | |
| 9 | g.127824946A>C | CA374982751 | ENG | c.299T>G (p.Phe100Cys) c.845T>G (p.Phe282Cys) | |
| 9 | g.127824946A>G | CA374982749 | ENG | c.299T>C (p.Phe100Ser) c.845T>C (p.Phe282Ser) | |
| 9 | g.127824946A>T | CA374982747 | ENG | c.299T>A (p.Phe100Tyr) c.845T>A (p.Phe282Tyr) | |
| 9 | g.127824947A>C | CA374982753 | ENG | c.298T>G (p.Phe100Val) c.844T>G (p.Phe282Val) | ClinVar gnomAD v4 |
| 9 | g.127824947A>G | CA374982755 | ENG | c.298T>C (p.Phe100Leu) c.844T>C (p.Phe282Leu) | gnomAD v4 |
| 9 | g.127824947A>T | CA374982756 | ENG | c.298T>A (p.Phe100Ile) c.844T>A (p.Phe282Ile) | |
| 9 | g.127824948G>A | CA467474737 | ENG | c.297C>T (p.Ile99=) c.843C>T (p.Ile281=) | |
| 9 | g.127824948G>C | CA374982758 | ENG | c.297C>G (p.Ile99Met) c.843C>G (p.Ile281Met) | |
| 9 | g.127824948G>T | CA467474740 | ENG | c.297C>A (p.Ile99=) c.843C>A (p.Ile281=) | |
| 9 | g.127824949A>C | CA374982761 | ENG | c.296T>G (p.Ile99Ser) c.842T>G (p.Ile281Ser) | |
| 9 | g.127824949A>G | CA374982762 | ENG | c.296T>C (p.Ile99Thr) c.842T>C (p.Ile281Thr) | |
| 9 | g.127824949A>T | CA374982764 | ENG | c.296T>A (p.Ile99Asn) c.842T>A (p.Ile281Asn) | |
| 9 | g.127824950del | CA2580079644 | ENG | c.295del (p.Ile99SerfsTer?) c.841del (p.Ile281SerfsTer?) | ClinVar |
| 9 | g.127824950T>A | CA374982766 | ENG | c.295A>T (p.Ile99Phe) c.841A>T (p.Ile281Phe) | |
| 9 | g.127824950T>C | CA5252952 | ENG | c.295A>G (p.Ile99Val) c.841A>G (p.Ile281Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824950T>G | CA374982769 | ENG | c.295A>C (p.Ile99Leu) c.841A>C (p.Ile281Leu) | |
| 9 | g.127824950T= | CA1879973784 | ENG | c.295A= (p.Ile99=) c.841A= (p.Ile281=) | |
| 9 | g.127824951del | CA2695211273 | ENG | c.294del (p.Ile99SerfsTer?) c.840del (p.Ile281SerfsTer?) | |
| 9 | g.127824951C>A | CA374982771 | ENG | c.294G>T (p.Lys98Asn) c.840G>T (p.Lys280Asn) | |
| 9 | g.127824951C= | CA1879973791 | ENG | c.294G= (p.Lys98=) c.840G= (p.Lys280=) | |
| 9 | g.127824951C>G | CA374982774 | ENG | c.294G>C (p.Lys98Asn) c.840G>C (p.Lys280Asn) | |
| 9 | g.127824951C>T | CA467474745 | ENG | c.294G>A (p.Lys98=) c.840G>A (p.Lys280=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824952T>A | CA374982778 | ENG | c.293A>T (p.Lys98Met) c.839A>T (p.Lys280Met) | |
| 9 | g.127824952T>C | CA5252953 | ENG | c.293A>G (p.Lys98Arg) c.839A>G (p.Lys280Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824952T>G | CA374982776 | ENG | c.293A>C (p.Lys98Thr) c.839A>C (p.Lys280Thr) | |
| 9 | g.127824952T= | CA1879973798 | ENG | c.293A= (p.Lys98=) c.839A= (p.Lys280=) | |
| 9 | g.127824953T>A | CA374982789 | ENG | c.292A>T (p.Lys98Ter) c.838A>T (p.Lys280Ter) | ClinVar dbSNP |
| 9 | g.127824953T>C | CA374982783 | ENG | c.292A>G (p.Lys98Glu) c.838A>G (p.Lys280Glu) | |
| 9 | g.127824953T>G | CA374982785 | ENG | c.292A>C (p.Lys98Gln) c.838A>C (p.Lys280Gln) | gnomAD v4 |
| 9 | g.127824953T= | CA1879973803 | ENG | c.292A= (p.Lys98=) c.838A= (p.Lys280=) | |
| 9 | g.127824954G>A | CA467474750 | ENG | c.291C>T (p.Phe97=) c.837C>T (p.Phe279=) | |
| 9 | g.127824954G>C | CA374982791 | ENG | c.291C>G (p.Phe97Leu) c.837C>G (p.Phe279Leu) | |
| 9 | g.127824954G>T | CA374982793 | ENG | c.291C>A (p.Phe97Leu) c.837C>A (p.Phe279Leu) | |
| 9 | g.127824955_127824957del | CA2695211276 | ENG | c.289_291del (p.Phe97del) c.835_837del (p.Phe279del) | |
| 9 | g.127824956_127824959del | CA2695211275 | ENG | c.288_291del (p.Phe97ArgfsTer?) c.834_837del (p.Phe279ArgfsTer?) | |
| 9 | g.127824955A= | CA1879973806 | ENG | c.290T= (p.Phe97=) c.836T= (p.Phe279=) | |
| 9 | g.127824955A>C | CA374982795 | ENG | c.290T>G (p.Phe97Cys) c.836T>G (p.Phe279Cys) | ClinVar |
| 9 | g.127824955A>G | CA374982796 | ENG | c.290T>C (p.Phe97Ser) c.836T>C (p.Phe279Ser) | |
| 9 | g.127824955A>T | CA374982797 | ENG | c.290T>A (p.Phe97Tyr) c.836T>A (p.Phe279Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824956del | CA2573143973 | ENG | c.290del (p.Phe97SerfsTer?) c.836del (p.Phe279SerfsTer?) | ClinVar dbSNP |
| 9 | g.127824956A>C | CA374982800 | ENG | c.289T>G (p.Phe97Val) c.835T>G (p.Phe279Val) | |
| 9 | g.127824956A>G | CA374982803 | ENG | c.289T>C (p.Phe97Leu) c.835T>C (p.Phe279Leu) | |
| 9 | g.127824956A>T | CA374982805 | ENG | c.289T>A (p.Phe97Ile) c.835T>A (p.Phe279Ile) | |
| 9 | g.127824958_127824960del | CA2573331834 | ENG | c.287_289del (p.Ser96del) c.833_835del (p.Ser278del) | |
| 9 | g.127824957G>A | CA467474754 | ENG | c.288C>T (p.Ser96=) c.834C>T (p.Ser278=) | dbSNP gnomAD v2 |
| 9 | g.127824957G>C | CA467474757 | ENG | c.288C>G (p.Ser96=) c.834C>G (p.Ser278=) | |
| 9 | g.127824957G= | CA1879973811 | ENG | c.288C= (p.Ser96=) c.834C= (p.Ser278=) | |
| 9 | g.127824957G>T | CA467474756 | ENG | c.288C>A (p.Ser96=) c.834C>A (p.Ser278=) | |
| 9 | g.127824958dup | CA2695211277 | ENG | c.288dup (p.Phe97LeufsTer?) c.834dup (p.Phe279LeufsTer?) | |
| 9 | g.127824958G>A | CA374982808 | ENG | c.287C>T (p.Ser96Phe) c.833C>T (p.Ser278Phe) | |
| 9 | g.127824958G>C | CA374982810 | ENG | c.287C>G (p.Ser96Cys) c.833C>G (p.Ser278Cys) | |
| 9 | g.127824958G>T | CA374982812 | ENG | c.287C>A (p.Ser96Tyr) c.833C>A (p.Ser278Tyr) | |
| 9 | g.127824959A>C | CA374982813 | ENG | c.286T>G (p.Ser96Ala) c.832T>G (p.Ser278Ala) | |
| 9 | g.127824959A>G | CA374982816 | ENG | c.286T>C (p.Ser96Pro) c.832T>C (p.Ser278Pro) | ClinVar |
| 9 | g.127824959A>T | CA374982814 | ENG | c.286T>A (p.Ser96Thr) c.832T>A (p.Ser278Thr) | |
| 9 | g.127824960G>A | CA200313119 | ENG | c.285C>T (p.Tyr95=) c.831C>T (p.Tyr277=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824960G>C | CA257566 | ENG | c.285C>G (p.Tyr95Ter) c.831C>G (p.Tyr277Ter) | ClinVar dbSNP |
| 9 | g.127824960G= | CA1879973822 | ENG | c.285C= (p.Tyr95=) c.831C= (p.Tyr277=) | |
| 9 | g.127824960G>T | CA374982821 | ENG | c.285C>A (p.Tyr95Ter) c.831C>A (p.Tyr277Ter) | ClinVar dbSNP |
| 9 | g.127824961T>A | CA374982823 | ENG | c.284A>T (p.Tyr95Phe) c.830A>T (p.Tyr277Phe) | |
| 9 | g.127824961T>C | CA374982825 | ENG | c.284A>G (p.Tyr95Cys) c.830A>G (p.Tyr277Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824961T>G | CA374982827 | ENG | c.284A>C (p.Tyr95Ser) c.830A>C (p.Tyr277Ser) | |
| 9 | g.127824961T= | CA1879973834 | ENG | c.284A= (p.Tyr95=) c.830A= (p.Tyr277=) | |
| 9 | g.127824962A= | CA1879973840 | ENG | c.283T= (p.Tyr95=) c.829T= (p.Tyr277=) | |
| 9 | g.127824962A>C | CA374982830 | ENG | c.283T>G (p.Tyr95Asp) c.829T>G (p.Tyr277Asp) | |
| 9 | g.127824962A>G | CA374982833 | ENG | c.283T>C (p.Tyr95His) c.829T>C (p.Tyr277His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824962A>T | CA374982835 | ENG | c.283T>A (p.Tyr95Asn) c.829T>A (p.Tyr277Asn) | |
| 9 | g.127824963T>A | CA374982838 | ENG | c.282A>T (p.Glu94Asp) c.828A>T (p.Glu276Asp) | |
| 9 | g.127824963T>C | CA467474769 | ENG | c.282A>G (p.Glu94=) c.828A>G (p.Glu276=) | |
| 9 | g.127824963T>G | CA374982840 | ENG | c.282A>C (p.Glu94Asp) c.828A>C (p.Glu276Asp) | |
| 9 | g.127824964dup | CA2695211281 | ENG | c.282dup (p.Tyr95IlefsTer?) c.828dup (p.Tyr277IlefsTer?) | |
| 9 | g.127824964del | CA2580079647 | ENG | c.282del (p.Glu94AspfsTer?) c.828del (p.Glu276AspfsTer?) | ClinVar |
| 9 | g.127824964T>A | CA374982846 | ENG | c.281A>T (p.Glu94Val) c.827A>T (p.Glu276Val) | gnomAD v4 |
| 9 | g.127824964T>C | CA374982847 | ENG | c.281A>G (p.Glu94Gly) c.827A>G (p.Glu276Gly) | |
| 9 | g.127824964T>G | CA374982843 | ENG | c.281A>C (p.Glu94Ala) c.827A>C (p.Glu276Ala) | |
| 9 | g.127824965C>A | CA374982851 | ENG | c.280G>T (p.Glu94Ter) c.826G>T (p.Glu276Ter) | |
| 9 | g.127824965C= | CA1879973843 | ENG | c.280G= (p.Glu94=) c.826G= (p.Glu276=) | |
| 9 | g.127824965C>G | CA374982853 | ENG | c.280G>C (p.Glu94Gln) c.826G>C (p.Glu276Gln) | |
| 9 | g.127824965C>T | CA200313123 | ENG | c.280G>A (p.Glu94Lys) c.826G>A (p.Glu276Lys) | dbSNP |
| 9 | g.127824966T>A | CA467474777 | ENG | c.279A>T (p.Gly93=) c.825A>T (p.Gly275=) | |
| 9 | g.127824966T>C | CA467474778 | ENG | c.279A>G (p.Gly93=) c.825A>G (p.Gly275=) | ClinVar |
| 9 | g.127824966T>G | CA467474782 | ENG | c.279A>C (p.Gly93=) c.825A>C (p.Gly275=) | |
| 9 | g.127824967C>A | CA374982859 | ENG | c.278G>T (p.Gly93Val) c.824G>T (p.Gly275Val) | |
| 9 | g.127824967C>G | CA374982861 | ENG | c.278G>C (p.Gly93Ala) c.824G>C (p.Gly275Ala) | |
| 9 | g.127824967C>T | CA374982862 | ENG | c.278G>A (p.Gly93Glu) c.824G>A (p.Gly275Glu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824968C>A | CA374982864 | ENG | c.277G>T (p.Gly93Ter) c.823G>T (p.Gly275Ter) | |
| 9 | g.127824968C>G | CA374982867 | ENG | c.277G>C (p.Gly93Arg) c.823G>C (p.Gly275Arg) | |
| 9 | g.127824968C>T | CA374982869 | ENG | c.277G>A (p.Gly93Arg) c.823G>A (p.Gly275Arg) | |
| 9 | g.127824969del | CA2580079648 | ENG | c.276del (p.Gly93GlufsTer?) c.822del (p.Gly275GlufsTer?) | ClinVar |
| 9 | g.127824969A>C | CA467474786 | ENG | c.276T>G (p.Thr92=) c.822T>G (p.Thr274=) | |
| 9 | g.127824969A>G | CA467474787 | ENG | c.276T>C (p.Thr92=) c.822T>C (p.Thr274=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824969A>T | CA467474788 | ENG | c.276T>A (p.Thr92=) c.822T>A (p.Thr274=) | |
| 9 | g.127824970G>A | CA374982872 | ENG | c.275C>T (p.Thr92Ile) c.821C>T (p.Thr274Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824970G>C | CA374982873 | ENG | c.275C>G (p.Thr92Ser) c.821C>G (p.Thr274Ser) | |
| 9 | g.127824970G= | CA1879973851 | ENG | c.275C= (p.Thr92=) c.821C= (p.Thr274=) | |
| 9 | g.127824970G>T | CA374982875 | ENG | c.275C>A (p.Thr92Asn) c.821C>A (p.Thr274Asn) | |
| 9 | g.127824971T>A | CA374982881 | ENG | c.274A>T (p.Thr92Ser) c.820A>T (p.Thr274Ser) | |
| 9 | g.127824971T>C | CA374982882 | ENG | c.274A>G (p.Thr92Ala) c.820A>G (p.Thr274Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824971T>G | CA374982879 | ENG | c.274A>C (p.Thr92Pro) c.820A>C (p.Thr274Pro) | |
| 9 | g.127824971T= | CA1879973858 | ENG | c.274A= (p.Thr92=) c.820A= (p.Thr274=) | |
| 9 | g.127824972G>A | CA467474793 | ENG | c.273C>T (p.Thr91=) c.819C>T (p.Thr273=) | ClinVar dbSNP |
| 9 | g.127824972G>C | CA467474796 | ENG | c.273C>G (p.Thr91=) c.819C>G (p.Thr273=) | |
| 9 | g.127824972G>T | CA467474797 | ENG | c.273C>A (p.Thr91=) c.819C>A (p.Thr273=) | |
| 9 | g.127824973G>A | CA090915 | ENG | c.272C>T (p.Thr91Ile) c.818C>T (p.Thr273Ile) | ClinVar dbSNP |
| 9 | g.127824973G>C | CA374982887 | ENG | c.272C>G (p.Thr91Ser) c.818C>G (p.Thr273Ser) | |
| 9 | g.127824973G= | CA1879973867 | ENG | c.272C= (p.Thr91=) c.818C= (p.Thr273=) | |
| 9 | g.127824973G>T | CA374982889 | ENG | c.272C>A (p.Thr91Asn) c.818C>A (p.Thr273Asn) | |
| 9 | g.127824974T>A | CA374982892 | ENG | c.271A>T (p.Thr91Ser) c.817A>T (p.Thr273Ser) | |
| 9 | g.127824974T>C | CA374982895 | ENG | c.271A>G (p.Thr91Ala) c.817A>G (p.Thr273Ala) | gnomAD v4 |
| 9 | g.127824974T>G | CA374982897 | ENG | c.271A>C (p.Thr91Pro) c.817A>C (p.Thr273Pro) | |
| 9 | g.127824975C>A | CA374982906 | ENG | c.271-1G>T (n.271-1G>T) c.817-1G>T (n.817-1G>T) | gnomAD v4 |
| 9 | g.127824975C= | CA1879973878 | ENG | c.271-1G= (n.271-1G=) c.817-1G= (n.817-1G=) | |
| 9 | g.127824975C>G | CA374982901 | ENG | c.271-1G>C (n.271-1G>C) c.817-1G>C (n.817-1G>C) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824975C>T | CA374982904 | ENG | c.271-1G>A (n.271-1G>A) c.817-1G>A (n.817-1G>A) | ClinVar dbSNP |
| 9 | g.127824976T>A | CA374982908 | ENG | c.271-2A>T (n.271-2A>T) c.817-2A>T (n.817-2A>T) | |
| 9 | g.127824976T>C | CA200313128 | ENG | c.271-2A>G (n.271-2A>G) c.817-2A>G (n.817-2A>G) | dbSNP |
| 9 | g.127824976T>G | CA374982910 | ENG | c.271-2A>C (n.271-2A>C) c.817-2A>C (n.817-2A>C) | |
| 9 | g.127824976T= | CA1879973889 | ENG | c.271-2A= (n.271-2A=) c.817-2A= (n.817-2A=) | |
| 9 | g.127824977A>C | CA2695211284 | ENG | c.271-3T>G (n.271-3T>G) c.817-3T>G (n.817-3T>G) | |
| 9 | g.127824977A>G | CA2691808950 | ENG | c.271-3T>C (n.271-3T>C) c.817-3T>C (n.817-3T>C) | ClinVar gnomAD v4 |
| 9 | g.127824978A= | CA1879973890 | ENG | c.271-4T= (n.271-4T=) c.817-4T= (n.817-4T=) | |
| 9 | g.127824978A>G | CA5252954 | ENG | c.271-4T>C (n.271-4T>C) c.817-4T>C (n.817-4T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824978A>T | CA2691808951 | ENG | c.271-4T>A (n.271-4T>A) c.817-4T>A (n.817-4T>A) | gnomAD v4 |
| 9 | g.127824978_127824981delinsATGG | CA1879973892 | ENG | c.271-7_271-4delinsCCAT (n.271-7_271-4delinsCCAT) c.817-7_817-4delinsCCAT (n.817-7_817-4delinsCCAT) | |
| 9 | g.127824979T>C | CA5252955 | ENG | c.271-5A>G (n.271-5A>G) c.817-5A>G (n.817-5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824979T= | CA1879973895 | ENG | c.271-5A= (n.271-5A=) c.817-5A= (n.817-5A=) | |
| 9 | g.127824982_127824984del | CA1879973894 | ENG | c.271-7_271-5del (n.271-7_271-5del) c.817-7_817-5del (n.817-7_817-5del) | dbSNP |
| 9 | g.127824980G>A | CA2579461278 | ENG | c.271-6C>T (n.271-6C>T) c.817-6C>T (n.817-6C>T) | |
| 9 | g.127824981G>A | CA2691808959 | ENG | c.271-7C>T (n.271-7C>T) c.817-7C>T (n.817-7C>T) | gnomAD v4 |
| 9 | g.127824981G>C | CA2695211285 | ENG | c.271-7C>G (n.271-7C>G) c.817-7C>G (n.817-7C>G) | |
| 9 | g.127824982T>C | CA5252956 | ENG | c.271-8A>G (n.271-8A>G) c.817-8A>G (n.817-8A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824982T= | CA1879973903 | ENG | c.271-8A= (n.271-8A=) c.817-8A= (n.817-8A=) | |
| 9 | g.127824983G>A | CA2691808963 | ENG | c.271-9C>T (n.271-9C>T) c.817-9C>T (n.817-9C>T) | gnomAD v4 |
| 9 | g.127824983G= | CA1879973906 | ENG | c.271-9C= (n.271-9C=) c.817-9C= (n.817-9C=) | |
| 9 | g.127824983G>T | CA200313140 | ENG | c.271-9C>A (n.271-9C>A) c.817-9C>A (n.817-9C>A) | dbSNP |
| 9 | g.127824984G>T | CA2691808964 | ENG | c.271-10C>A (n.271-10C>A) c.817-10C>A (n.817-10C>A) | gnomAD v4 |
| 9 | g.127824985G>A | CA860197131 | ENG | c.271-11C>T (n.271-11C>T) c.817-11C>T (n.817-11C>T) | dbSNP |
| 9 | g.127824985G= | CA1879973908 | ENG | c.271-11C= (n.271-11C=) c.817-11C= (n.817-11C=) | |
| 9 | g.127824986G>A | CA860197133 | ENG | c.271-12C>T (n.271-12C>T) c.817-12C>T (n.817-12C>T) | dbSNP |
| 9 | g.127824986G= | CA1879973914 | ENG | c.271-12C= (n.271-12C=) c.817-12C= (n.817-12C=) | |
| 9 | g.127824987A= | CA1879973919 | ENG | c.271-13T= (n.271-13T=) c.817-13T= (n.817-13T=) | |
| 9 | g.127824987A>G | CA5252957 | ENG | c.271-13T>C (n.271-13T>C) c.817-13T>C (n.817-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824987dup | CA2691808965 | ENG | c.271-13dup (n.271-13dup) c.817-13dup (n.817-13dup) | gnomAD v4 |
| 9 | g.127824988G>A | CA2691808966 | ENG | c.271-14C>T (n.271-14C>T) c.817-14C>T (n.817-14C>T) | gnomAD v4 |
| 9 | g.127824988G>T | CA2691808967 | ENG | c.271-14C>A (n.271-14C>A) c.817-14C>A (n.817-14C>A) | gnomAD v4 |
| 9 | g.127824989A>G | CA2579461279 | ENG | c.271-15T>C (n.271-15T>C) c.817-15T>C (n.817-15T>C) | gnomAD v4 |
| 9 | g.127824990G>T | CA2691808968 | ENG | c.271-16C>A (n.271-16C>A) c.817-16C>A (n.817-16C>A) | gnomAD v4 |
| 9 | g.127824991A>T | CA2579461280 | ENG | c.271-17T>A (n.271-17T>A) c.817-17T>A (n.817-17T>A) |