9 | g.127854221_127854256del | CA2691810439 | ENG | c.67+41_67+76del (n.67+41_67+76del)
| gnomAD v4 |
9 | g.127854246_127854254del | CA2691810494 | ENG | c.67+37_67+45del (n.67+37_67+45del)
| gnomAD v4 |
9 | g.127854254C>A | CA2691810518 | ENG | c.67+35G>T (n.67+35G>T)
| gnomAD v4 |
9 | g.127854254C>G | CA2691810519 | ENG | c.67+35G>C (n.67+35G>C)
| gnomAD v4 |
9 | g.127854254C>T | CA2691810521 | ENG | c.67+35G>A (n.67+35G>A)
| gnomAD v4 |
9 | g.127854255C= | CA1879998578 | ENG | c.67+34G= (n.67+34G=)
| |
9 | g.127854255C>G | CA1879998579 | ENG | c.67+34G>C (n.67+34G>C)
| dbSNP |
9 | g.127854255C>T | CA5253253 | ENG | c.67+34G>A (n.67+34G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854256G>A | CA5253254 | ENG | c.67+33C>T (n.67+33C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854256G= | CA1879998584 | ENG | c.67+33C= (n.67+33C=)
| |
9 | g.127854256G>T | CA2691810527 | ENG | c.67+33C>A (n.67+33C>A)
| gnomAD v4 |
9 | g.127854257A>G | CA2785997429 | ENG | c.67+32T>C (n.67+32T>C)
| |
9 | g.127854257A>T | CA2691810529 | ENG | c.67+32T>A (n.67+32T>A)
| gnomAD v4 |
9 | g.127854258G>A | CA2691810531 | ENG | c.67+31C>T (n.67+31C>T)
| gnomAD v4 |
9 | g.127854258G>C | CA2691810532 | ENG | c.67+31C>G (n.67+31C>G)
| gnomAD v4 |
9 | g.127854258G>T | CA2691810533 | ENG | c.67+31C>A (n.67+31C>A)
| gnomAD v4 |
9 | g.127854259T>C | CA5253255 | ENG | c.67+30A>G (n.67+30A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854259T= | CA1879998589 | ENG | c.67+30A= (n.67+30A=)
| |
9 | g.127854260C>A | CA2691810535 | ENG | c.67+29G>T (n.67+29G>T)
| gnomAD v4 |
9 | g.127854260C= | CA1879998593 | ENG | c.67+29G= (n.67+29G=)
| |
9 | g.127854260C>G | CA860211900 | ENG | c.67+29G>C (n.67+29G>C)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.127854260C>T | CA5253256 | ENG | c.67+29G>A (n.67+29G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127854261T>A | CA2691810538 | ENG | c.67+28A>T (n.67+28A>T)
| gnomAD v4 |
9 | g.127854261T>C | CA2691810539 | ENG | c.67+28A>G (n.67+28A>G)
| gnomAD v4 |
9 | g.127854262C>A | CA2691810543 | ENG | c.67+27G>T (n.67+27G>T)
| gnomAD v4 |
9 | g.127854262C= | CA1879998597 | ENG | c.67+27G= (n.67+27G=)
| |
9 | g.127854262C>T | CA590606711 | ENG | c.67+27G>A (n.67+27G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854265del | CA2691810541 | ENG | c.67+27del (n.67+27del)
| gnomAD v4 |
9 | g.127854263C>A | CA590606714 | ENG | c.67+26G>T (n.67+26G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854263C= | CA1879998600 | ENG | c.67+26G= (n.67+26G=)
| |
9 | g.127854263C>G | CA5253257 | ENG | c.67+26G>C (n.67+26G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127854263C>T | CA590606718 | ENG | c.67+26G>A (n.67+26G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854264C>A | CA2691810551 | ENG | c.67+25G>T (n.67+25G>T)
| gnomAD v4 |
9 | g.127854264C= | CA1879998601 | ENG | c.67+25G= (n.67+25G=)
| |
9 | g.127854264C>G | CA1879998603 | ENG | c.67+25G>C (n.67+25G>C)
| dbSNP |
9 | g.127854264C>T | CA2691810552 | ENG | c.67+25G>A (n.67+25G>A)
| gnomAD v4 |
9 | g.127854265C>A | CA2691810553 | ENG | c.67+24G>T (n.67+24G>T)
| gnomAD v4 |
9 | g.127854265C>T | CA2691810554 | ENG | c.67+24G>A (n.67+24G>A)
| gnomAD v4 |
9 | g.127854266A= | CA1879998605 | ENG | c.67+23T= (n.67+23T=)
| |
9 | g.127854266A>C | CA1879998606 | ENG | c.67+23T>G (n.67+23T>G)
| dbSNP |
9 | g.127854267C>A | CA2691810555 | ENG | c.67+22G>T (n.67+22G>T)
| gnomAD v4 |
9 | g.127854267C>T | CA2691810556 | ENG | c.67+22G>A (n.67+22G>A)
| gnomAD v4 |
9 | g.127854268C>A | CA2691810557 | ENG | c.67+21G>T (n.67+21G>T)
| gnomAD v4 |
9 | g.127854268C>T | CA2691810558 | ENG | c.67+21G>A (n.67+21G>A)
| gnomAD v4 |
9 | g.127854269C>A | CA5253258 | ENG | c.67+20G>T (n.67+20G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854269C= | CA1879998617 | ENG | c.67+20G= (n.67+20G=)
| |
9 | g.127854269C>G | CA2691810559 | ENG | c.67+20G>C (n.67+20G>C)
| gnomAD v4 |
9 | g.127854269C>T | CA2691810560 | ENG | c.67+20G>A (n.67+20G>A)
| gnomAD v4 |
9 | g.127854270T>A | CA2691810561 | ENG | c.67+19A>T (n.67+19A>T)
| gnomAD v4 |
9 | g.127854270T>C | CA2691810562 | ENG | c.67+19A>G (n.67+19A>G)
| gnomAD v4 |
9 | g.127854274_127854295del | CA2739264799 | ENG | c.65_67+19del
| ClinVar |
9 | g.127854271G>A | CA2691810564 | ENG | c.67+18C>T (n.67+18C>T)
| gnomAD v4 |
9 | g.127854271G>T | CA2691810563 | ENG | c.67+18C>A (n.67+18C>A)
| gnomAD v4 |
9 | g.127854272G>T | CA2691810565 | ENG | c.67+17C>A (n.67+17C>A)
| gnomAD v4 |
9 | g.127854273G>A | CA2579461536 | ENG | c.67+16C>T (n.67+16C>T)
| gnomAD v4 |
9 | g.127854273G>T | CA2691810566 | ENG | c.67+16C>A (n.67+16C>A)
| gnomAD v4 |
9 | g.127854274T>A | CA2691810567 | ENG | c.67+15A>T (n.67+15A>T)
| gnomAD v4 |
9 | g.127854274T>C | CA590606721 | ENG | c.67+15A>G (n.67+15A>G)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.127854274T= | CA1879998620 | ENG | c.67+15A= (n.67+15A=)
| |
9 | g.127854275C>A | CA2691810568 | ENG | c.67+14G>T (n.67+14G>T)
| gnomAD v4 |
9 | g.127854277_127854285del | CA2573053097 | ENG | c.67+6_67+14del (n.67+6_67+14del)
| ClinVar dbSNP |
9 | g.127854276C>A | CA2691810569 | ENG | c.67+13G>T (n.67+13G>T)
| gnomAD v4 |
9 | g.127854276C= | CA1879998625 | ENG | c.67+13G= (n.67+13G=)
| |
9 | g.127854276C>G | CA860211914 | ENG | c.67+13G>C (n.67+13G>C)
| dbSNP |
9 | g.127854276C>T | CA2691810570 | ENG | c.67+13G>A (n.67+13G>A)
| gnomAD v4 |
9 | g.127854277C>A | CA5253259 | ENG | c.67+12G>T (n.67+12G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127854277C= | CA1879998628 | ENG | c.67+12G= (n.67+12G=)
| |
9 | g.127854277C>T | CA590606723 | ENG | c.67+12G>A (n.67+12G>A)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.127854278T>C | CA2691810571 | ENG | c.67+11A>G (n.67+11A>G)
| gnomAD v4 |
9 | g.127854278T>G | CA2691810572 | ENG | c.67+11A>C (n.67+11A>C)
| gnomAD v4 |
9 | g.127854279G>A | CA590606724 | ENG | c.67+10C>T (n.67+10C>T)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.127854279G>C | CA2691810573 | ENG | c.67+10C>G (n.67+10C>G)
| gnomAD v4 |
9 | g.127854279G= | CA1879998631 | ENG | c.67+10C= (n.67+10C=)
| |
9 | g.127854279G>T | CA2579461537 | ENG | c.67+10C>A (n.67+10C>A)
| gnomAD v4 |
9 | g.127854282C>A | CA2691810574 | ENG | c.67+7G>T (n.67+7G>T)
| gnomAD v4 |
9 | g.127854282C= | CA1879998634 | ENG | c.67+7G= (n.67+7G=)
| |
9 | g.127854282C>T | CA590606725 | ENG | c.67+7G>A (n.67+7G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854283A>G | CA2691810575 | ENG | c.67+6T>C (n.67+6T>C)
| gnomAD v4 |
9 | g.127854283A>T | CA2691810576 | ENG | c.67+6T>A (n.67+6T>A)
| gnomAD v4 |
9 | g.127854284C>A | CA2691810577 | ENG | c.67+5G>T (n.67+5G>T)
| ClinVar gnomAD v4 |
9 | g.127854284C= | CA1879998638 | ENG | c.67+5G= (n.67+5G=)
| |
9 | g.127854284C>T | CA238556 | ENG | c.67+5G>A (n.67+5G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127854285C= | CA1879998642 | ENG | c.67+4G= (n.67+4G=)
| |
9 | g.127854285C>T | CA860211935 | ENG | c.67+4G>A (n.67+4G>A)
| ClinVar dbSNP gnomAD v4 |
9 | g.127854286T>A | CA2691810578 | ENG | c.67+3A>T (n.67+3A>T)
| gnomAD v4 |
9 | g.127854286T>C | CA2691810579 | ENG | c.67+3A>G (n.67+3A>G)
| gnomAD v4 |
9 | g.127854287A>C | CA374989485 | ENG | c.67+2T>G (n.67+2T>G)
| |
9 | g.127854287A>G | CA374989483 | ENG | c.67+2T>C (n.67+2T>C)
| ClinVar dbSNP gnomAD v4 |
9 | g.127854287A>T | CA374989481 | ENG | c.67+2T>A (n.67+2T>A)
| |
9 | g.127854288C>A | CA374989487 | ENG | c.67+1G>T (n.67+1G>T)
| gnomAD v4 |
9 | g.127854288C= | CA1879998651 | ENG | c.67+1G= (n.67+1G=)
| |
9 | g.127854288C>G | CA374989489 | ENG | c.67+1G>C (n.67+1G>C)
| |
9 | g.127854288C>T | CA374989490 | ENG | c.67+1G>A (n.67+1G>A)
| ClinVar dbSNP gnomAD v4 |
9 | g.127854288_127854289delinsCT | CA1879998650 | ENG | c.67_67+1delinsAG
| |
9 | g.127854289T>A | CA374989492 | ENG | c.67A>T (p.Ser23Cys)
| gnomAD v4 |
9 | g.127854289T>C | CA374989494 | ENG | c.67A>G (p.Ser23Gly)
| gnomAD v4 |
9 | g.127854289T>G | CA374989496 | ENG | c.67A>C (p.Ser23Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854289T= | CA1879998661 | ENG | c.67A= (p.Ser23=)
| |
9 | g.127854290del | CA10582617 | ENG | c.67del (p.Ser23ValfsTer20)
| ClinVar dbSNP |
9 | g.127854290T>A | CA467235197 | ENG | c.66A>T (p.Thr22=)
| gnomAD v4 |
9 | g.127854290T>C | CA467235198 | ENG | c.66A>G (p.Thr22=)
| |
9 | g.127854290T>G | CA467235199 | ENG | c.66A>C (p.Thr22=)
| |
9 | g.127854292_127854293del | CA2739291271 | ENG | c.65_66del (p.Thr22LysfsTer9)
| |
9 | g.127854291G>A | CA374989497 | ENG | c.65C>T (p.Thr22Ile)
| gnomAD v4 |
9 | g.127854291G>C | CA374989499 | ENG | c.65C>G (p.Thr22Arg)
| |
9 | g.127854291G>T | CA374989501 | ENG | c.65C>A (p.Thr22Lys)
| gnomAD v4 |
9 | g.127854292T>A | CA374989503 | ENG | c.64A>T (p.Thr22Ser)
| gnomAD v4 |
9 | g.127854292T>C | CA5253260 | ENG | c.64A>G (p.Thr22Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854292T>G | CA374989505 | ENG | c.64A>C (p.Thr22Pro)
| |
9 | g.127854292T= | CA1879998666 | ENG | c.64A= (p.Thr22=)
| |
9 | g.127854293G>A | CA467235200 | ENG | c.63C>T (p.Pro21=)
| gnomAD v4 |
9 | g.127854293G>C | CA467235201 | ENG | c.63C>G (p.Pro21=)
| gnomAD v4 |
9 | g.127854293G>T | CA467235202 | ENG | c.63C>A (p.Pro21=)
| gnomAD v4 |
9 | g.127854296dup | CA1139661232 | ENG | c.63dup (p.Thr22HisfsTer10)
| ClinVar dbSNP |
9 | g.127854296del | CA2580079580 | ENG | c.63del (p.Thr22GlnfsTer21)
| ClinVar |
9 | g.127854294G>A | CA374989509 | ENG | c.62C>T (p.Pro21Leu)
| |
9 | g.127854294G>C | CA5253261 | ENG | c.62C>G (p.Pro21Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127854294G= | CA1879998674 | ENG | c.62C= (p.Pro21=)
| |
9 | g.127854294G>T | CA374989507 | ENG | c.62C>A (p.Pro21His)
| gnomAD v4 |
9 | g.127854295G>A | CA374989512 | ENG | c.61C>T (p.Pro21Ser)
| gnomAD v4 |
9 | g.127854295G>C | CA374989513 | ENG | c.61C>G (p.Pro21Ala)
| |
9 | g.127854295G>T | CA374989515 | ENG | c.61C>A (p.Pro21Thr)
| gnomAD v4 |
9 | g.127854296G>A | CA467235203 | ENG | c.60C>T (p.Ser20=)
| gnomAD v4 |
9 | g.127854296G>C | CA374989517 | ENG | c.60C>G (p.Ser20Arg)
| gnomAD v4 |
9 | g.127854296G>T | CA374989519 | ENG | c.60C>A (p.Ser20Arg)
| gnomAD v4 |
9 | g.127854297C>A | CA374989521 | ENG | c.59G>T (p.Ser20Ile)
| gnomAD v4 |
9 | g.127854297C>G | CA374989522 | ENG | c.59G>C (p.Ser20Thr)
| |
9 | g.127854297C>T | CA374989523 | ENG | c.59G>A (p.Ser20Asn)
| |
9 | g.127854298T>A | CA374989525 | ENG | c.58A>T (p.Ser20Cys)
| gnomAD v4 |
9 | g.127854298T>C | CA374989527 | ENG | c.58A>G (p.Ser20Gly)
| gnomAD v4 |
9 | g.127854298T>G | CA374989529 | ENG | c.58A>C (p.Ser20Arg)
| gnomAD v4 |
9 | g.127854299G>A | CA467235204 | ENG | c.57C>T (p.Leu19=)
| gnomAD v4 |
9 | g.127854299G>C | CA467235205 | ENG | c.57C>G (p.Leu19=)
| |
9 | g.127854299G>T | CA467235206 | ENG | c.57C>A (p.Leu19=)
| gnomAD v4 |
9 | g.127854300A>C | CA374989533 | ENG | c.56T>G (p.Leu19Arg)
| |
9 | g.127854300A>G | CA374989531 | ENG | c.56T>C (p.Leu19Pro)
| |
9 | g.127854300A>T | CA374989530 | ENG | c.56T>A (p.Leu19His)
| gnomAD v4 |
9 | g.127854301G>A | CA374989536 | ENG | c.55C>T (p.Leu19Phe)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.127854301G>C | CA374989537 | ENG | c.55C>G (p.Leu19Val)
| |
9 | g.127854301G= | CA1879998678 | ENG | c.55C= (p.Leu19=)
| |
9 | g.127854301G>T | CA374989539 | ENG | c.55C>A (p.Leu19Ile)
| gnomAD v4 |
9 | g.127854302G>A | CA200326630 | ENG | c.54C>T (p.Ser18=)
| dbSNP gnomAD v4 |
9 | g.127854302G>C | CA374989540 | ENG | c.54C>G (p.Ser18Arg)
| |
9 | g.127854302G= | CA1879998685 | ENG | c.54C= (p.Ser18=)
| |
9 | g.127854302G>T | CA374989542 | ENG | c.54C>A (p.Ser18Arg)
| gnomAD v4 |
9 | g.127854303C>A | CA374989543 | ENG | c.53G>T (p.Ser18Ile)
| gnomAD v4 |
9 | g.127854303C>G | CA374989545 | ENG | c.53G>C (p.Ser18Thr)
| |
9 | g.127854303C>T | CA374989547 | ENG | c.53G>A (p.Ser18Asn)
| gnomAD v4 |
9 | g.127854304T>A | CA374989549 | ENG | c.52A>T (p.Ser18Cys)
| |
9 | g.127854304T>C | CA374989550 | ENG | c.52A>G (p.Ser18Gly)
| gnomAD v4 |
9 | g.127854304T>G | CA374989551 | ENG | c.52A>C (p.Ser18Arg)
| |
9 | g.127854304_127854315delinsTGCAGCTGGCCA | CA1879998689 | ENG | c.41_52delinsTGGCCAGCTGCA (p.Leu14=)
| |
9 | g.127854305G>A | CA467235207 | ENG | c.51C>T (p.Cys17=)
| gnomAD v4 |
9 | g.127854305G>C | CA374989553 | ENG | c.51C>G (p.Cys17Trp)
| |
9 | g.127854305G>T | CA374989555 | ENG | c.51C>A (p.Cys17Ter)
| gnomAD v4 |
9 | g.127854310_127854320dup | CA2695211398 | ENG | c.41_51dup (p.Ser18TrpfsTer29)
| ClinVar |
9 | g.127854310_127854320del | CA913189495 | ENG | c.41_51del (p.Leu14GlnfsTer14)
| ClinVar dbSNP |
9 | g.127854306C>A | CA374989558 | ENG | c.50G>T (p.Cys17Phe)
| gnomAD v4 |
9 | g.127854306C>G | CA374989559 | ENG | c.50G>C (p.Cys17Ser)
| |
9 | g.127854306C>T | CA374989557 | ENG | c.50G>A (p.Cys17Tyr)
| gnomAD v4 |
9 | g.127854307A>C | CA374989563 | ENG | c.49T>G (p.Cys17Gly)
| |
9 | g.127854307A>G | CA374989562 | ENG | c.49T>C (p.Cys17Arg)
| |
9 | g.127854307A>T | CA374989565 | ENG | c.49T>A (p.Cys17Ser)
| |
9 | g.127854308G>A | CA467235208 | ENG | c.48C>T (p.Ser16=)
| gnomAD v4 |
9 | g.127854308G>C | CA5253262 | ENG | c.48C>G (p.Ser16Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854308G= | CA1879998697 | ENG | c.48C= (p.Ser16=)
| |
9 | g.127854308G>T | CA374989567 | ENG | c.48C>A (p.Ser16Arg)
| gnomAD v4 |
9 | g.127854309C>A | CA374989569 | ENG | c.47G>T (p.Ser16Ile)
| gnomAD v4 |
9 | g.127854309C>G | CA374989571 | ENG | c.47G>C (p.Ser16Thr)
| gnomAD v4 |
9 | g.127854309C>T | CA374989572 | ENG | c.47G>A (p.Ser16Asn)
| gnomAD v3 gnomAD v4 |
9 | g.127854310T>A | CA374989573 | ENG | c.46A>T (p.Ser16Cys)
| |
9 | g.127854310T>C | CA374989575 | ENG | c.46A>G (p.Ser16Gly)
| |
9 | g.127854310T>G | CA374989576 | ENG | c.46A>C (p.Ser16Arg)
| gnomAD v4 |
9 | g.127854311G>A | CA467235209 | ENG | c.45C>T (p.Ala15=)
| ClinVar gnomAD v4 |
9 | g.127854311G>C | CA5253263 | ENG | c.45C>G (p.Ala15=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854311G= | CA1879998702 | ENG | c.45C= (p.Ala15=)
| |
9 | g.127854311G>T | CA467235210 | ENG | c.45C>A (p.Ala15=)
| gnomAD v4 |
9 | g.127854312G>A | CA374989578 | ENG | c.44C>T (p.Ala15Val)
| gnomAD v4 |
9 | g.127854312G>C | CA374989579 | ENG | c.44C>G (p.Ala15Gly)
| |
9 | g.127854312G>T | CA374989580 | ENG | c.44C>A (p.Ala15Asp)
| gnomAD v4 |
9 | g.127854317_127854334dup | CA860211987 | ENG | c.27_44dup (p.Ala15_Ser16insValAlaLeuLeuLeuAla)
| dbSNP |
9 | g.127854313C>A | CA374989585 | ENG | c.43G>T (p.Ala15Ser)
| gnomAD v4 |
9 | g.127854313C= | CA1879998706 | ENG | c.43G= (p.Ala15=)
| |
9 | g.127854313C>G | CA374989583 | ENG | c.43G>C (p.Ala15Pro)
| |
9 | g.127854313C>T | CA374989582 | ENG | c.43G>A (p.Ala15Thr)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.127854314del | CA2691810580 | ENG | c.43del (p.Ala15ProfsTer28)
| gnomAD v4 |
9 | g.127854314C>A | CA467235213 | ENG | c.42G>T (p.Leu14=)
| gnomAD v4 |
9 | g.127854314C>G | CA467235214 | ENG | c.42G>C (p.Leu14=)
| |
9 | g.127854314C>T | CA467235215 | ENG | c.42G>A (p.Leu14=)
| gnomAD v4 |
9 | g.127854315del | CA2739264801 | ENG | c.41del (p.Leu14ArgfsTer29)
| ClinVar |
9 | g.127854315A= | CA1879998711 | ENG | c.41T= (p.Leu14=)
| |
9 | g.127854315A>C | CA374989587 | ENG | c.41T>G (p.Leu14Arg)
| |
9 | g.127854315A>G | CA374989588 | ENG | c.41T>C (p.Leu14Pro)
| ClinVar dbSNP gnomAD v4 |
9 | g.127854315A>T | CA374989590 | ENG | c.41T>A (p.Leu14Gln)
| |
9 | g.127854316G>A | CA467235219 | ENG | c.40C>T (p.Leu14=)
| gnomAD v4 |
9 | g.127854316G>C | CA374989592 | ENG | c.40C>G (p.Leu14Val)
| |
9 | g.127854316G>T | CA374989594 | ENG | c.40C>A (p.Leu14Met)
| gnomAD v4 |
9 | g.127854316_127854317delinsGC | CA1879998715 | ENG | c.39_40delinsGC (p.Leu13=)
| |
9 | g.127854317_127854318insTGC | CA2579461538 | ENG | c.40_41insAGC (p.Leu13_Leu14insGln)
| |
9 | g.127854317del | CA1139661233 | ENG | c.39del (p.Leu14TrpfsTer29)
| ClinVar dbSNP |
9 | g.127854317C>A | CA467235220 | ENG | c.39G>T (p.Leu13=)
| gnomAD v4 |
9 | g.127854317C= | CA1879998721 | ENG | c.39G= (p.Leu13=)
| |
9 | g.127854317C>G | CA467235221 | ENG | c.39G>C (p.Leu13=)
| |
9 | g.127854317C>T | CA467235223 | ENG | c.39G>A (p.Leu13=)
| dbSNP gnomAD v2 |
9 | g.127854317dup | CA2842474669 | ENG | c.39dup (p.Leu14AlafsTer18)
| |
9 | g.127854318A>C | CA374989596 | ENG | c.38T>G (p.Leu13Arg)
| |
9 | g.127854318A>G | CA374989597 | ENG | c.38T>C (p.Leu13Pro)
| |
9 | g.127854318A>T | CA374989599 | ENG | c.38T>A (p.Leu13Gln)
| |
9 | g.127854319G>A | CA467235224 | ENG | c.37C>T (p.Leu13=)
| gnomAD v4 |
9 | g.127854319G>C | CA374989600 | ENG | c.37C>G (p.Leu13Val)
| |
9 | g.127854319G>T | CA374989602 | ENG | c.37C>A (p.Leu13Met)
| ClinVar gnomAD v4 |
9 | g.127854320C>A | CA467235225 | ENG | c.36G>T (p.Leu12=)
| gnomAD v4 |
9 | g.127854320C>G | CA467235226 | ENG | c.36G>C (p.Leu12=)
| |
9 | g.127854320C>T | CA467235227 | ENG | c.36G>A (p.Leu12=)
| gnomAD v4 |
9 | g.127854321A= | CA1879998730 | ENG | c.35T= (p.Leu12=)
| |
9 | g.127854321A>C | CA374989604 | ENG | c.35T>G (p.Leu12Arg)
| ClinVar |
9 | g.127854321A>G | CA374989606 | ENG | c.35T>C (p.Leu12Pro)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
9 | g.127854321A>T | CA374989608 | ENG | c.35T>A (p.Leu12Gln)
| |
9 | g.127854322G>A | CA467235228 | ENG | c.34C>T (p.Leu12=)
| |
9 | g.127854322G>C | CA374989609 | ENG | c.34C>G (p.Leu12Val)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.127854322G= | CA1879998737 | ENG | c.34C= (p.Leu12=)
| |
9 | g.127854322G>T | CA374989611 | ENG | c.34C>A (p.Leu12Met)
| gnomAD v4 |
9 | g.127854322_127854332dup | CA2695211399 | ENG | c.24_34dup (p.Leu12ArgfsTer?)
| |
9 | g.127854323G>A | CA467235230 | ENG | c.33C>T (p.Ala11=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.127854323G>C | CA467235231 | ENG | c.33C>G (p.Ala11=)
| gnomAD v4 |
9 | g.127854323G= | CA1879998740 | ENG | c.33C= (p.Ala11=)
| |
9 | g.127854323G>T | CA467235229 | ENG | c.33C>A (p.Ala11=)
| gnomAD v4 |
9 | g.127854324G>A | CA374989612 | ENG | c.32C>T (p.Ala11Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.127854324G>C | CA374989613 | ENG | c.32C>G (p.Ala11Gly)
| |
9 | g.127854324G= | CA1879998742 | ENG | c.32C= (p.Ala11=)
| |
9 | g.127854324G>T | CA374989615 | ENG | c.32C>A (p.Ala11Asp)
| gnomAD v4 |
9 | g.127854325C>A | CA374989617 | ENG | c.31G>T (p.Ala11Ser)
| gnomAD v4 |
9 | g.127854325C= | CA1879998749 | ENG | c.31G= (p.Ala11=)
| |
9 | g.127854325C>G | CA374989619 | ENG | c.31G>C (p.Ala11Pro)
| gnomAD v4 |
9 | g.127854325C>T | CA5253264 | ENG | c.31G>A (p.Ala11Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854326A>C | CA467235234 | ENG | c.30T>G (p.Val10=)
| |
9 | g.127854326A>G | CA467235232 | ENG | c.30T>C (p.Val10=)
| gnomAD v4 |
9 | g.127854326A>T | CA467235233 | ENG | c.30T>A (p.Val10=)
| |
9 | g.127854327A>C | CA374989625 | ENG | c.29T>G (p.Val10Gly)
| |
9 | g.127854327A>G | CA374989623 | ENG | c.29T>C (p.Val10Ala)
| |
9 | g.127854327A>T | CA374989621 | ENG | c.29T>A (p.Val10Asp)
| |
9 | g.127854328C>A | CA374989626 | ENG | c.28G>T (p.Val10Phe)
| gnomAD v4 |
9 | g.127854328C= | CA1879998752 | ENG | c.28G= (p.Val10=)
| |
9 | g.127854328C>G | CA374989627 | ENG | c.28G>C (p.Val10Leu)
| |
9 | g.127854328C>T | CA374989628 | ENG | c.28G>A (p.Val10Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.127854329A>C | CA467235235 | ENG | c.27T>G (p.Ala9=)
| |
9 | g.127854329A>G | CA467235237 | ENG | c.27T>C (p.Ala9=)
| ClinVar dbSNP gnomAD v4 |
9 | g.127854329A>T | CA467235236 | ENG | c.27T>A (p.Ala9=)
| gnomAD v4 |
9 | g.127854330G>A | CA374989629 | ENG | c.26C>T (p.Ala9Val)
| gnomAD v4 |
9 | g.127854330G>C | CA374989631 | ENG | c.26C>G (p.Ala9Gly)
| ClinVar |
9 | g.127854330G>T | CA374989633 | ENG | c.26C>A (p.Ala9Asp)
| gnomAD v4 |
9 | g.127854331C>A | CA374989634 | ENG | c.25G>T (p.Ala9Ser)
| dbSNP gnomAD v4 |
9 | g.127854331C= | CA1879998756 | ENG | c.25G= (p.Ala9=)
| |
9 | g.127854331C>G | CA374989638 | ENG | c.25G>C (p.Ala9Pro)
| |
9 | g.127854331C>T | CA374989636 | ENG | c.25G>A (p.Ala9Thr)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.127854332dup | CA2842474670 | ENG | c.25dup (p.Ala9GlyfsTer23)
| |
9 | g.127854332C>A | CA467235238 | ENG | c.24G>T (p.Leu8=)
| gnomAD v4 |
9 | g.127854332C= | CA1879998760 | ENG | c.24G= (p.Leu8=)
| |
9 | g.127854332C>G | CA467235240 | ENG | c.24G>C (p.Leu8=)
| |
9 | g.127854332C>T | CA200326665 | ENG | c.24G>A (p.Leu8=)
| dbSNP gnomAD v4 |
9 | g.127854333A= | CA1879998763 | ENG | c.23T= (p.Leu8=)
| |
9 | g.127854333A>C | CA374989639 | ENG | c.23T>G (p.Leu8Arg)
| |
9 | g.127854333A>G | CA374989640 | ENG | c.23T>C (p.Leu8Pro)
| ClinVar dbSNP |
9 | g.127854333A>T | CA374989641 | ENG | c.23T>A (p.Leu8Gln)
| gnomAD v4 |
9 | g.127854334G>A | CA467235241 | ENG | c.22C>T (p.Leu8=)
| |
9 | g.127854334G>C | CA374989642 | ENG | c.22C>G (p.Leu8Val)
| |
9 | g.127854334G>T | CA374989643 | ENG | c.22C>A (p.Leu8Met)
| gnomAD v4 |
9 | g.127854335A>C | CA467235242 | ENG | c.21T>G (p.Pro7=)
| |
9 | g.127854335A>G | CA467235243 | ENG | c.21T>C (p.Pro7=)
| gnomAD v4 |
9 | g.127854335A>T | CA467235244 | ENG | c.21T>A (p.Pro7=)
| gnomAD v4 |
9 | g.127854336G>A | CA374989645 | ENG | c.20C>T (p.Pro7Leu)
| |
9 | g.127854336G>C | CA374989646 | ENG | c.20C>G (p.Pro7Arg)
| |
9 | g.127854336G>T | CA374989647 | ENG | c.20C>A (p.Pro7His)
| dbSNP gnomAD v4 |
9 | g.127854338dup | CA2842474671 | ENG | c.20dup (p.Leu8SerfsTer24)
| |
9 | g.127854338del | CA2691810581 | ENG | c.20del (p.Pro7LeufsTer?)
| gnomAD v4 |
9 | g.127854337G>A | CA374989649 | ENG | c.19C>T (p.Pro7Ser)
| gnomAD v4 |
9 | g.127854337G>C | CA374989651 | ENG | c.19C>G (p.Pro7Ala)
| |
9 | g.127854337G>T | CA374989653 | ENG | c.19C>A (p.Pro7Thr)
| gnomAD v4 |
9 | g.127854338G>A | CA467235245 | ENG | c.18C>T (p.Leu6=)
| gnomAD v4 |
9 | g.127854338G>C | CA467235246 | ENG | c.18C>G (p.Leu6=)
| gnomAD v4 |
9 | g.127854338G>T | CA467235247 | ENG | c.18C>A (p.Leu6=)
| gnomAD v4 |
9 | g.127854339A>C | CA374989654 | ENG | c.17T>G (p.Leu6Arg)
| |
9 | g.127854339A>G | CA374989657 | ENG | c.17T>C (p.Leu6Pro)
| gnomAD v4 |
9 | g.127854339A>T | CA374989655 | ENG | c.17T>A (p.Leu6His)
| |
9 | g.127854340G>A | CA374989659 | ENG | c.16C>T (p.Leu6Phe)
| ClinVar gnomAD v4 |
9 | g.127854340G>C | CA374989662 | ENG | c.16C>G (p.Leu6Val)
| |
9 | g.127854340G>T | CA374989661 | ENG | c.16C>A (p.Leu6Ile)
| gnomAD v4 |
9 | g.127854341C>A | CA467235248 | ENG | c.15G>T (p.Thr5=)
| |
9 | g.127854341C= | CA1879998769 | ENG | c.15G= (p.Thr5=)
| |
9 | g.127854341C>G | CA467235249 | ENG | c.15G>C (p.Thr5=)
| |
9 | g.127854341C>T | CA5253265 | ENG | c.15G>A (p.Thr5=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127854342G>A | CA295808 | ENG | c.14C>T (p.Thr5Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854342G>C | CA374989663 | ENG | c.14C>G (p.Thr5Arg)
| |
9 | g.127854342G= | CA1879998774 | ENG | c.14C= (p.Thr5=)
| |
9 | g.127854342G>T | CA374989665 | ENG | c.14C>A (p.Thr5Lys)
| |
9 | g.127854343T>A | CA374989667 | ENG | c.13A>T (p.Thr5Ser)
| |
9 | g.127854343T>C | CA374989669 | ENG | c.13A>G (p.Thr5Ala)
| gnomAD v4 |
9 | g.127854343T>G | CA374989670 | ENG | c.13A>C (p.Thr5Pro)
| |
9 | g.127854344G>A | CA467235256 | ENG | c.12C>T (p.Gly4=)
| gnomAD v4 |
9 | g.127854344G>C | CA467235259 | ENG | c.12C>G (p.Gly4=)
| |
9 | g.127854344G>T | CA467235257 | ENG | c.12C>A (p.Gly4=)
| gnomAD v4 |
9 | g.127854345C>A | CA374989672 | ENG | c.11G>T (p.Gly4Val)
| gnomAD v4 |
9 | g.127854345C>G | CA374989674 | ENG | c.11G>C (p.Gly4Ala)
| |
9 | g.127854345C>T | CA374989675 | ENG | c.11G>A (p.Gly4Asp)
| gnomAD v4 |
9 | g.127854346C>A | CA374989677 | ENG | c.10G>T (p.Gly4Cys)
| gnomAD v4 |
9 | g.127854346C= | CA1879998778 | ENG | c.10G= (p.Gly4=)
| |
9 | g.127854346C>G | CA374989678 | ENG | c.10G>C (p.Gly4Arg)
| ClinVar dbSNP gnomAD v2 |
9 | g.127854346C>T | CA200326672 | ENG | c.10G>A (p.Gly4Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854347G>A | CA5253266 | ENG | c.9C>T (p.Arg3=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854347G>C | CA5253267 | ENG | c.9C>G (p.Arg3=)
| dbSNP ExAC gnomAD v4 |
9 | g.127854347G= | CA1879998781 | ENG | c.9C= (p.Arg3=)
| |
9 | g.127854347G>T | CA467235267 | ENG | c.9C>A (p.Arg3=)
| gnomAD v4 |
9 | g.127854347_127854363delinsGCGGTCCATGCTGTCCA | CA1879998782 | ENG | c.-8_9delinsTGGACAGCATGGACCGC
| |
9 | g.127854348C>A | CA374989682 | ENG | c.8G>T (p.Arg3Leu)
| gnomAD v4 |
9 | g.127854348C= | CA1879998792 | ENG | c.8G= (p.Arg3=)
| |
9 | g.127854348C>G | CA374989684 | ENG | c.8G>C (p.Arg3Pro)
| |
9 | g.127854348C>T | CA374989686 | ENG | c.8G>A (p.Arg3His)
| ClinVar dbSNP gnomAD v4 |
9 | g.127854350_127854365del | CA915947192 | ENG | c.-8_8del
| ClinVar dbSNP |
9 | g.127854349G>A | CA5253268 | ENG | c.7C>T (p.Arg3Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854349G>C | CA374989687 | ENG | c.7C>G (p.Arg3Gly)
| ClinVar dbSNP |
9 | g.127854349G= | CA1879998811 | ENG | c.7C= (p.Arg3=)
| |
9 | g.127854349G>T | CA374989690 | ENG | c.7C>A (p.Arg3Ser)
| dbSNP |
9 | g.127854350G>A | CA467235277 | ENG | c.6C>T (p.Asp2=)
| gnomAD v4 |
9 | g.127854350G>C | CA374989691 | ENG | c.6C>G (p.Asp2Glu)
| |
9 | g.127854350G>T | CA374989693 | ENG | c.6C>A (p.Asp2Glu)
| |
9 | g.127854351T>A | CA374989694 | ENG | c.5A>T (p.Asp2Val)
| |
9 | g.127854351T>C | CA374989695 | ENG | c.5A>G (p.Asp2Gly)
| gnomAD v4 |
9 | g.127854351T>G | CA374989697 | ENG | c.5A>C (p.Asp2Ala)
| |
9 | g.127854352C>A | CA374989702 | ENG | c.4G>T (p.Asp2Tyr)
| gnomAD v4 |
9 | g.127854352C>G | CA374989701 | ENG | c.4G>C (p.Asp2His)
| |
9 | g.127854352C>T | CA374989699 | ENG | c.4G>A (p.Asp2Asn)
| gnomAD v4 |
9 | g.127854353C>A | CA374989704 | ENG | c.3G>T (p.Met1Ile)
| ClinVar gnomAD v4 |
9 | g.127854353C>G | CA374989705 | ENG | c.3G>C (p.Met1Ile)
| |
9 | g.127854353C>T | CA374989707 | ENG | c.3G>A (p.Met1Ile)
| ClinVar gnomAD v4 |
9 | g.127854354A= | CA1879998828 | ENG | c.2T= (p.Met1=)
| |
9 | g.127854354A>C | CA374989708 | ENG | c.2T>G (p.Met1Arg)
| ClinVar dbSNP |
9 | g.127854354A>G | CA257569 | ENG | c.2T>C (p.Met1Thr)
| ClinVar dbSNP |
9 | g.127854354A>T | CA374989710 | ENG | c.2T>A (p.Met1Lys)
| gnomAD v4 |