22 | g.49913404C>A | CA412079490 | ALG12 | c.276G>T (p.Lys92Asn)
| |
22 | g.49913404C= | CA2410564723 | ALG12 | c.276G= (p.Lys92=)
| |
22 | g.49913404C>G | CA412079491 | ALG12 | c.276G>C (p.Lys92Asn)
| |
22 | g.49913404C>T | CA515106479 | ALG12 | c.276G>A (p.Lys92=)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913405T>A | CA412079493 | ALG12 | c.275A>T (p.Lys92Met)
| |
22 | g.49913405T>C | CA10300680 | ALG12 | c.275A>G (p.Lys92Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913405T>G | CA412079496 | ALG12 | c.275A>C (p.Lys92Thr)
| |
22 | g.49913405T= | CA2410564724 | ALG12 | c.275A= (p.Lys92=)
| |
22 | g.49913406T>A | CA412079502 | ALG12 | c.274A>T (p.Lys92Ter)
| |
22 | g.49913406T>C | CA412079500 | ALG12 | c.274A>G (p.Lys92Glu)
| |
22 | g.49913406T>G | CA412079499 | ALG12 | c.274A>C (p.Lys92Gln)
| gnomAD v4 |
22 | g.49913407G>A | CA515106494 | ALG12 | c.273C>T (p.Ser91=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913407G>C | CA10300681 | ALG12 | c.273C>G (p.Ser91=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913407G= | CA2410564725 | ALG12 | c.273C= (p.Ser91=)
| |
22 | g.49913407G>T | CA515106499 | ALG12 | c.273C>A (p.Ser91=)
| |
22 | g.49913408G>A | CA412079504 | ALG12 | c.272C>T (p.Ser91Phe)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913408G>C | CA412079505 | ALG12 | c.272C>G (p.Ser91Cys)
| |
22 | g.49913408G= | CA2410564726 | ALG12 | c.272C= (p.Ser91=)
| |
22 | g.49913408G>T | CA412079507 | ALG12 | c.272C>A (p.Ser91Tyr)
| |
22 | g.49913409A>C | CA412079510 | ALG12 | c.271T>G (p.Ser91Ala)
| |
22 | g.49913409A>G | CA412079511 | ALG12 | c.271T>C (p.Ser91Pro)
| |
22 | g.49913409A>T | CA412079512 | ALG12 | c.271T>A (p.Ser91Thr)
| |
22 | g.49913410C>A | CA412079514 | ALG12 | c.270G>T (p.Met90Ile)
| |
22 | g.49913410C= | CA2410564727 | ALG12 | c.270G= (p.Met90=)
| |
22 | g.49913410C>G | CA412079515 | ALG12 | c.270G>C (p.Met90Ile)
| |
22 | g.49913410C>T | CA10300682 | ALG12 | c.270G>A (p.Met90Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913411A>C | CA412079517 | ALG12 | c.269T>G (p.Met90Arg)
| |
22 | g.49913411A>G | CA412079518 | ALG12 | c.269T>C (p.Met90Thr)
| |
22 | g.49913411A>T | CA412079520 | ALG12 | c.269T>A (p.Met90Lys)
| |
22 | g.49913412T>A | CA412079526 | ALG12 | c.268A>T (p.Met90Leu)
| |
22 | g.49913412T>C | CA412079524 | ALG12 | c.268A>G (p.Met90Val)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913412T>G | CA412079523 | ALG12 | c.268A>C (p.Met90Leu)
| |
22 | g.49913412T= | CA2410564728 | ALG12 | c.268A= (p.Met90=)
| |
22 | g.49913413T>A | CA412079530 | ALG12 | c.267A>T (p.Glu89Asp)
| |
22 | g.49913413T>C | CA515106528 | ALG12 | c.267A>G (p.Glu89=)
| gnomAD v4 COSMIC |
22 | g.49913413T>G | CA412079528 | ALG12 | c.267A>C (p.Glu89Asp)
| |
22 | g.49913414T>A | CA412079532 | ALG12 | c.266A>T (p.Glu89Val)
| |
22 | g.49913414T>C | CA412079533 | ALG12 | c.266A>G (p.Glu89Gly)
| |
22 | g.49913414T>G | CA412079535 | ALG12 | c.266A>C (p.Glu89Ala)
| |
22 | g.49913415C>A | CA412079538 | ALG12 | c.265G>T (p.Glu89Ter)
| COSMIC |
22 | g.49913415C= | CA2410564729 | ALG12 | c.265G= (p.Glu89=)
| |
22 | g.49913415C>G | CA412079539 | ALG12 | c.265G>C (p.Glu89Gln)
| |
22 | g.49913415C>T | CA412079540 | ALG12 | c.265G>A (p.Glu89Lys)
| dbSNP |
22 | g.49913416T>A | CA412079542 | ALG12 | c.264A>T (p.Leu88Phe)
| |
22 | g.49913416T>C | CA515106532 | ALG12 | c.264A>G (p.Leu88=)
| |
22 | g.49913416T>G | CA412079544 | ALG12 | c.264A>C (p.Leu88Phe)
| |
22 | g.49913417A>C | CA412079546 | ALG12 | c.263T>G (p.Leu88Ter)
| |
22 | g.49913417A>G | CA412079547 | ALG12 | c.263T>C (p.Leu88Ser)
| |
22 | g.49913417A>T | CA412079549 | ALG12 | c.263T>A (p.Leu88Ter)
| |
22 | g.49913418A>C | CA412079551 | ALG12 | c.262T>G (p.Leu88Val)
| |
22 | g.49913418A>G | CA515106534 | ALG12 | c.262T>C (p.Leu88=)
| |
22 | g.49913418A>T | CA412079553 | ALG12 | c.262T>A (p.Leu88Ile)
| |
22 | g.49913419C>A | CA515106535 | ALG12 | c.261G>T (p.Leu87=)
| |
22 | g.49913419C= | CA2410564730 | ALG12 | c.261G= (p.Leu87=)
| |
22 | g.49913419C>G | CA515106537 | ALG12 | c.261G>C (p.Leu87=)
| |
22 | g.49913419C>T | CA515106538 | ALG12 | c.261G>A (p.Leu87=)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913420A>C | CA412079554 | ALG12 | c.260T>G (p.Leu87Arg)
| |
22 | g.49913420A>G | CA412079566 | ALG12 | c.260T>C (p.Leu87Pro)
| |
22 | g.49913420A>T | CA412079557 | ALG12 | c.260T>A (p.Leu87Gln)
| |
22 | g.49913421G>A | CA515106542 | ALG12 | c.259C>T (p.Leu87=)
| |
22 | g.49913421G>C | CA412079568 | ALG12 | c.259C>G (p.Leu87Val)
| gnomAD v4 |
22 | g.49913421G>T | CA412079569 | ALG12 | c.259C>A (p.Leu87Met)
| |
22 | g.49913422C>A | CA515106546 | ALG12 | c.258G>T (p.Ser86=)
| |
22 | g.49913422C= | CA2410564731 | ALG12 | c.258G= (p.Ser86=)
| |
22 | g.49913422C>G | CA515106547 | ALG12 | c.258G>C (p.Ser86=)
| |
22 | g.49913422C>T | CA10300683 | ALG12 | c.258G>A (p.Ser86=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913423G>A | CA325433344 | ALG12 | c.257C>T (p.Ser86Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913423G>C | CA412079575 | ALG12 | c.257C>G (p.Ser86Trp)
| |
22 | g.49913423G= | CA2410564732 | ALG12 | c.257C= (p.Ser86=)
| |
22 | g.49913423G>T | CA412079578 | ALG12 | c.257C>A (p.Ser86Ter)
| |
22 | g.49913424A>C | CA412079581 | ALG12 | c.256T>G (p.Ser86Ala)
| |
22 | g.49913424A>G | CA412079584 | ALG12 | c.256T>C (p.Ser86Pro)
| |
22 | g.49913424A>T | CA412079585 | ALG12 | c.256T>A (p.Ser86Thr)
| |
22 | g.49913425A>C | CA515106554 | ALG12 | c.255T>G (p.Leu85=)
| gnomAD v4 |
22 | g.49913425A>G | CA515106556 | ALG12 | c.255T>C (p.Leu85=)
| |
22 | g.49913425A>T | CA515106557 | ALG12 | c.255T>A (p.Leu85=)
| |
22 | g.49913426A>C | CA412079593 | ALG12 | c.254T>G (p.Leu85Arg)
| |
22 | g.49913426A>G | CA412079595 | ALG12 | c.254T>C (p.Leu85Pro)
| gnomAD v4 |
22 | g.49913426A>T | CA412079598 | ALG12 | c.254T>A (p.Leu85His)
| |
22 | g.49913427G>A | CA412079604 | ALG12 | c.253C>T (p.Leu85Phe)
| |
22 | g.49913427G>C | CA412079607 | ALG12 | c.253C>G (p.Leu85Val)
| |
22 | g.49913427G>T | CA412079601 | ALG12 | c.253C>A (p.Leu85Ile)
| |
22 | g.49913428del | CA2657453750 | ALG12 | c.252del (p.Leu85PhefsTer4)
| gnomAD v4 |
22 | g.49913428C>A | CA515106560 | ALG12 | c.252G>T (p.Val84=)
| |
22 | g.49913428C>G | CA515106561 | ALG12 | c.252G>C (p.Val84=)
| |
22 | g.49913428C>T | CA515106562 | ALG12 | c.252G>A (p.Val84=)
| gnomAD v4 |
22 | g.49913429A>C | CA412079609 | ALG12 | c.251T>G (p.Val84Gly)
| |
22 | g.49913429A>G | CA412079611 | ALG12 | c.251T>C (p.Val84Ala)
| |
22 | g.49913429A>T | CA412079610 | ALG12 | c.251T>A (p.Val84Glu)
| |
22 | g.49913430C>A | CA412079614 | ALG12 | c.250G>T (p.Val84Leu)
| gnomAD v4 |
22 | g.49913430C= | CA2410564733 | ALG12 | c.250G= (p.Val84=)
| |
22 | g.49913430C>G | CA325433351 | ALG12 | c.250G>C (p.Val84Leu)
| dbSNP gnomAD v4 |
22 | g.49913430C>T | CA10300684 | ALG12 | c.250G>A (p.Val84Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.49913431G>A | CA10300685 | ALG12 | c.249C>T (p.Tyr83=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913431G>C | CA412079620 | ALG12 | c.249C>G (p.Tyr83Ter)
| |
22 | g.49913431G= | CA2410564734 | ALG12 | c.249C= (p.Tyr83=)
| |
22 | g.49913431G>T | CA412079623 | ALG12 | c.249C>A (p.Tyr83Ter)
| |
22 | g.49913432T>A | CA412079625 | ALG12 | c.248A>T (p.Tyr83Phe)
| |
22 | g.49913432T>C | CA412079627 | ALG12 | c.248A>G (p.Tyr83Cys)
| |
22 | g.49913432T>G | CA412079633 | ALG12 | c.248A>C (p.Tyr83Ser)
| |
22 | g.49913433A>C | CA412079637 | ALG12 | c.247T>G (p.Tyr83Asp)
| gnomAD v4 |
22 | g.49913433A>G | CA412079640 | ALG12 | c.247T>C (p.Tyr83His)
| |
22 | g.49913433A>T | CA412079643 | ALG12 | c.247T>A (p.Tyr83Asn)
| |
22 | g.49913434A>C | CA515106580 | ALG12 | c.246T>G (p.Val82=)
| gnomAD v4 |
22 | g.49913434A>G | CA515106581 | ALG12 | c.246T>C (p.Val82=)
| |
22 | g.49913434A>T | CA515106582 | ALG12 | c.246T>A (p.Val82=)
| |
22 | g.49913435A>C | CA412079651 | ALG12 | c.245T>G (p.Val82Gly)
| |
22 | g.49913435A>G | CA412079645 | ALG12 | c.245T>C (p.Val82Ala)
| |
22 | g.49913435A>T | CA412079648 | ALG12 | c.245T>A (p.Val82Asp)
| |
22 | g.49913436C>A | CA10300686 | ALG12 | c.244G>T (p.Val82Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913436C= | CA2410564735 | ALG12 | c.244G= (p.Val82=)
| |
22 | g.49913436C>G | CA412079657 | ALG12 | c.244G>C (p.Val82Leu)
| |
22 | g.49913436C>T | CA412079660 | ALG12 | c.244G>A (p.Val82Ile)
| dbSNP gnomAD v4 |
22 | g.49913437C>A | CA515106594 | ALG12 | c.243G>T (p.Ala81=)
| dbSNP |
22 | g.49913437C= | CA2410564736 | ALG12 | c.243G= (p.Ala81=)
| |
22 | g.49913437C>G | CA515106595 | ALG12 | c.243G>C (p.Ala81=)
| gnomAD v4 |
22 | g.49913437C>T | CA10300687 | ALG12 | c.243G>A (p.Ala81=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913438G>A | CA10300688 | ALG12 | c.242C>T (p.Ala81Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913438G>C | CA412079670 | ALG12 | c.242C>G (p.Ala81Gly)
| |
22 | g.49913438G= | CA2410564737 | ALG12 | c.242C= (p.Ala81=)
| |
22 | g.49913438G>T | CA412079671 | ALG12 | c.242C>A (p.Ala81Glu)
| |
22 | g.49913439C>A | CA412079674 | ALG12 | c.241G>T (p.Ala81Ser)
| |
22 | g.49913439C= | CA2410564738 | ALG12 | c.241G= (p.Ala81=)
| |
22 | g.49913439C>G | CA412079678 | ALG12 | c.241G>C (p.Ala81Pro)
| |
22 | g.49913439C>T | CA10300689 | ALG12 | c.241G>A (p.Ala81Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913440G>A | CA10300690 | ALG12 | c.240C>T (p.Pro80=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913440G>C | CA515106603 | ALG12 | c.240C>G (p.Pro80=)
| |
22 | g.49913440G= | CA2410564739 | ALG12 | c.240C= (p.Pro80=)
| |
22 | g.49913440G>T | CA515106605 | ALG12 | c.240C>A (p.Pro80=)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913441G>A | CA412079703 | ALG12 | c.239C>T (p.Pro80Leu)
| gnomAD v4 |
22 | g.49913441G>C | CA412079692 | ALG12 | c.239C>G (p.Pro80Arg)
| |
22 | g.49913441G>T | CA412079688 | ALG12 | c.239C>A (p.Pro80His)
| |
22 | g.49913442G>A | CA412079706 | ALG12 | c.238C>T (p.Pro80Ser)
| |
22 | g.49913442G>C | CA412079708 | ALG12 | c.238C>G (p.Pro80Ala)
| |
22 | g.49913442G= | CA2410564740 | ALG12 | c.238C= (p.Pro80=)
| |
22 | g.49913442G>T | CA10300691 | ALG12 | c.238C>A (p.Pro80Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913443G>A | CA515106615 | ALG12 | c.237C>T (p.Ser79=)
| |
22 | g.49913443G>C | CA412079709 | ALG12 | c.237C>G (p.Ser79Arg)
| |
22 | g.49913443G= | CA2410564741 | ALG12 | c.237C= (p.Ser79=)
| |
22 | g.49913443G>T | CA10300692 | ALG12 | c.237C>A (p.Ser79Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913444C>A | CA412079720 | ALG12 | c.236G>T (p.Ser79Ile)
| gnomAD v4 |
22 | g.49913444C>G | CA412079717 | ALG12 | c.236G>C (p.Ser79Thr)
| |
22 | g.49913444C>T | CA412079713 | ALG12 | c.236G>A (p.Ser79Asn)
| gnomAD v4 |
22 | g.49913445T>A | CA412079727 | ALG12 | c.235A>T (p.Ser79Cys)
| |
22 | g.49913445T>C | CA412079731 | ALG12 | c.235A>G (p.Ser79Gly)
| |
22 | g.49913445T>G | CA412079733 | ALG12 | c.235A>C (p.Ser79Arg)
| |
22 | g.49913446G>A | CA515106626 | ALG12 | c.234C>T (p.Ser78=)
| dbSNP |
22 | g.49913446G>C | CA515106625 | ALG12 | c.234C>G (p.Ser78=)
| |
22 | g.49913446G= | CA2410564742 | ALG12 | c.234C= (p.Ser78=)
| |
22 | g.49913446G>T | CA515106622 | ALG12 | c.234C>A (p.Ser78=)
| |
22 | g.49913447G>A | CA325433382 | ALG12 | c.233C>T (p.Ser78Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913447G>C | CA412079741 | ALG12 | c.233C>G (p.Ser78Cys)
| |
22 | g.49913447G= | CA2410564743 | ALG12 | c.233C= (p.Ser78=)
| |
22 | g.49913447G>T | CA412079744 | ALG12 | c.233C>A (p.Ser78Tyr)
| gnomAD v4 |
22 | g.49913448A= | CA2410564744 | ALG12 | c.232T= (p.Ser78=)
| |
22 | g.49913448A>C | CA412079753 | ALG12 | c.232T>G (p.Ser78Ala)
| |
22 | g.49913448A>G | CA412079761 | ALG12 | c.232T>C (p.Ser78Pro)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913448A>T | CA412079758 | ALG12 | c.232T>A (p.Ser78Thr)
| |
22 | g.49913449G>A | CA515106633 | ALG12 | c.231C>T (p.Phe77=)
| ClinVar dbSNP gnomAD v4 |
22 | g.49913449G>C | CA412079764 | ALG12 | c.231C>G (p.Phe77Leu)
| dbSNP |
22 | g.49913449G= | CA2410564745 | ALG12 | c.231C= (p.Phe77=)
| |
22 | g.49913449G>T | CA412079766 | ALG12 | c.231C>A (p.Phe77Leu)
| |
22 | g.49913450A>C | CA412079774 | ALG12 | c.230T>G (p.Phe77Cys)
| |
22 | g.49913450A>G | CA412079778 | ALG12 | c.230T>C (p.Phe77Ser)
| |
22 | g.49913450A>T | CA412079781 | ALG12 | c.230T>A (p.Phe77Tyr)
| |
22 | g.49913451A>C | CA412079785 | ALG12 | c.229T>G (p.Phe77Val)
| |
22 | g.49913451A>G | CA412079792 | ALG12 | c.229T>C (p.Phe77Leu)
| |
22 | g.49913451A>T | CA412079795 | ALG12 | c.229T>A (p.Phe77Ile)
| |
22 | g.49913452C>A | CA515106645 | ALG12 | c.228G>T (p.Val76=)
| |
22 | g.49913452C>G | CA515106646 | ALG12 | c.228G>C (p.Val76=)
| |
22 | g.49913452C>T | CA515106647 | ALG12 | c.228G>A (p.Val76=)
| |
22 | g.49913453A= | CA2410564746 | ALG12 | c.227T= (p.Val76=)
| |
22 | g.49913453A>C | CA412079798 | ALG12 | c.227T>G (p.Val76Gly)
| gnomAD v4 |
22 | g.49913453A>G | CA10300693 | ALG12 | c.227T>C (p.Val76Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913453A>T | CA412079809 | ALG12 | c.227T>A (p.Val76Glu)
| |
22 | g.49913454C>A | CA412079818 | ALG12 | c.226G>T (p.Val76Leu)
| |
22 | g.49913454C= | CA2410564747 | ALG12 | c.226G= (p.Val76=)
| |
22 | g.49913454C>G | CA412079814 | ALG12 | c.226G>C (p.Val76Leu)
| |
22 | g.49913454C>T | CA412079813 | ALG12 | c.226G>A (p.Val76Met)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913455T>A | CA515106652 | ALG12 | c.225A>T (p.Ala75=)
| |
22 | g.49913455T>C | CA515106654 | ALG12 | c.225A>G (p.Ala75=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913455T>G | CA515106656 | ALG12 | c.225A>C (p.Ala75=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913455T= | CA2410564748 | ALG12 | c.225A= (p.Ala75=)
| |
22 | g.49913456G>A | CA412079821 | ALG12 | c.224C>T (p.Ala75Val)
| gnomAD v4 |
22 | g.49913456G>C | CA412079827 | ALG12 | c.224C>G (p.Ala75Gly)
| |
22 | g.49913456G>T | CA412079824 | ALG12 | c.224C>A (p.Ala75Glu)
| |
22 | g.49913456_49913471delinsGCGATCACCACTGGCC | CA2410564749 | ALG12 | c.209_224delinsGGCCAGTGGTGATCGC (p.Gly70=)
| |
22 | g.49913457C>A | CA412079832 | ALG12 | c.223G>T (p.Ala75Ser)
| dbSNP |
22 | g.49913457C= | CA2410564750 | ALG12 | c.223G= (p.Ala75=)
| |
22 | g.49913457C>G | CA412079834 | ALG12 | c.223G>C (p.Ala75Pro)
| |
22 | g.49913457C>T | CA10300694 | ALG12 | c.223G>A (p.Ala75Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.49913460_49913474del | CA640352370 | ALG12 | c.209_223del (p.Gly70_Ile74del)
| dbSNP gnomAD v2 |
22 | g.49913458G>A | CA10300695 | ALG12 | c.222C>T (p.Ile74=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913458G>C | CA325433398 | ALG12 | c.222C>G (p.Ile74Met)
| dbSNP |
22 | g.49913458G= | CA2410564751 | ALG12 | c.222C= (p.Ile74=)
| |
22 | g.49913458G>T | CA515106666 | ALG12 | c.222C>A (p.Ile74=)
| ClinVar gnomAD v4 |
22 | g.49913459A>C | CA412079837 | ALG12 | c.221T>G (p.Ile74Ser)
| gnomAD v4 |
22 | g.49913459A>G | CA412079842 | ALG12 | c.221T>C (p.Ile74Thr)
| |
22 | g.49913459A>T | CA412079844 | ALG12 | c.221T>A (p.Ile74Asn)
| |
22 | g.49913460T>A | CA412079848 | ALG12 | c.220A>T (p.Ile74Phe)
| |
22 | g.49913460T>C | CA10300696 | ALG12 | c.220A>G (p.Ile74Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913460T>G | CA412079851 | ALG12 | c.220A>C (p.Ile74Leu)
| |
22 | g.49913460T= | CA2410564752 | ALG12 | c.220A= (p.Ile74=)
| |
22 | g.49913461C>A | CA515106677 | ALG12 | c.219G>T (p.Val73=)
| |
22 | g.49913461C>G | CA515106678 | ALG12 | c.219G>C (p.Val73=)
| |
22 | g.49913461C>T | CA515106680 | ALG12 | c.219G>A (p.Val73=)
| |
22 | g.49913462A>C | CA412079854 | ALG12 | c.218T>G (p.Val73Gly)
| |
22 | g.49913462A>G | CA412079862 | ALG12 | c.218T>C (p.Val73Ala)
| |
22 | g.49913462A>T | CA412079857 | ALG12 | c.218T>A (p.Val73Glu)
| |
22 | g.49913463C>A | CA412079867 | ALG12 | c.217G>T (p.Val73Leu)
| |
22 | g.49913463C= | CA2410564753 | ALG12 | c.217G= (p.Val73=)
| |
22 | g.49913463C>G | CA412079870 | ALG12 | c.217G>C (p.Val73Leu)
| |
22 | g.49913463C>T | CA412079876 | ALG12 | c.217G>A (p.Val73Met)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913464C>A | CA10300697 | ALG12 | c.216G>T (p.Val72=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913464C= | CA2410564754 | ALG12 | c.216G= (p.Val72=)
| |
22 | g.49913464C>G | CA515106693 | ALG12 | c.216G>C (p.Val72=)
| |
22 | g.49913464C>T | CA515106695 | ALG12 | c.216G>A (p.Val72=)
| |
22 | g.49913465A= | CA2410564755 | ALG12 | c.215T= (p.Val72=)
| |
22 | g.49913465A>C | CA412079882 | ALG12 | c.215T>G (p.Val72Gly)
| dbSNP |
22 | g.49913465A>G | CA412079892 | ALG12 | c.215T>C (p.Val72Ala)
| |
22 | g.49913465A>T | CA412079887 | ALG12 | c.215T>A (p.Val72Glu)
| |
22 | g.49913466C>A | CA412079901 | ALG12 | c.214G>T (p.Val72Leu)
| dbSNP gnomAD v4 |
22 | g.49913466C= | CA2410564756 | ALG12 | c.214G= (p.Val72=)
| |
22 | g.49913466C>G | CA412079904 | ALG12 | c.214G>C (p.Val72Leu)
| |
22 | g.49913466C>T | CA412079905 | ALG12 | c.214G>A (p.Val72Met)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913467T>A | CA515106701 | ALG12 | c.213A>T (p.Pro71=)
| |
22 | g.49913467T>C | CA515106702 | ALG12 | c.213A>G (p.Pro71=)
| gnomAD v4 |
22 | g.49913467T>G | CA515106704 | ALG12 | c.213A>C (p.Pro71=)
| |
22 | g.49913468G>A | CA412079906 | ALG12 | c.212C>T (p.Pro71Leu)
| |
22 | g.49913468G>C | CA412079907 | ALG12 | c.212C>G (p.Pro71Arg)
| |
22 | g.49913468G>T | CA412079909 | ALG12 | c.212C>A (p.Pro71Gln)
| |
22 | g.49913469G>A | CA412079912 | ALG12 | c.211C>T (p.Pro71Ser)
| |
22 | g.49913469G>C | CA412079916 | ALG12 | c.211C>G (p.Pro71Ala)
| |
22 | g.49913469G>T | CA412079923 | ALG12 | c.211C>A (p.Pro71Thr)
| |
22 | g.49913470C>A | CA515106712 | ALG12 | c.210G>T (p.Gly70=)
| |
22 | g.49913470C>G | CA515106711 | ALG12 | c.210G>C (p.Gly70=)
| |
22 | g.49913470C>T | CA515106710 | ALG12 | c.210G>A (p.Gly70=)
| gnomAD v4 |
22 | g.49913471C>A | CA412079926 | ALG12 | c.209G>T (p.Gly70Val)
| |
22 | g.49913471C= | CA2410564757 | ALG12 | c.209G= (p.Gly70=)
| |
22 | g.49913471C>G | CA412079929 | ALG12 | c.209G>C (p.Gly70Ala)
| dbSNP |
22 | g.49913471C>T | CA412079935 | ALG12 | c.209G>A (p.Gly70Glu)
| |
22 | g.49913472C>A | CA412079939 | ALG12 | c.208G>T (p.Gly70Trp)
| |
22 | g.49913472C= | CA2410564758 | ALG12 | c.208G= (p.Gly70=)
| |
22 | g.49913472C>G | CA412079941 | ALG12 | c.208G>C (p.Gly70Arg)
| |
22 | g.49913472C>T | CA412079940 | ALG12 | c.208G>A (p.Gly70Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913473G>A | CA10300698 | ALG12 | c.207C>T (p.Leu69=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913473G>C | CA515106725 | ALG12 | c.207C>G (p.Leu69=)
| |
22 | g.49913473G= | CA2410564759 | ALG12 | c.207C= (p.Leu69=)
| |
22 | g.49913473G>T | CA515106727 | ALG12 | c.207C>A (p.Leu69=)
| |
22 | g.49913474A= | CA2410564760 | ALG12 | c.206T= (p.Leu69=)
| |
22 | g.49913474A>C | CA412079946 | ALG12 | c.206T>G (p.Leu69Arg)
| |
22 | g.49913474A>G | CA412079949 | ALG12 | c.206T>C (p.Leu69Pro)
| |
22 | g.49913474A>T | CA412079953 | ALG12 | c.206T>A (p.Leu69His)
| |
22 | g.49913475G>A | CA412079957 | ALG12 | c.205C>T (p.Leu69Phe)
| |
22 | g.49913475G>C | CA412079960 | ALG12 | c.205C>G (p.Leu69Val)
| |
22 | g.49913475G>T | CA412079967 | ALG12 | c.205C>A (p.Leu69Ile)
| |
22 | g.49913475_49913482dup | CA754007655 | ALG12 | c.198_205dup (p.Leu69ArgfsTer8)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913476G>A | CA515106731 | ALG12 | c.204C>T (p.Phe68=)
| gnomAD v4 |
22 | g.49913476G>C | CA412079976 | ALG12 | c.204C>G (p.Phe68Leu)
| ClinVar dbSNP gnomAD v4 |
22 | g.49913476G= | CA2410564761 | ALG12 | c.204C= (p.Phe68=)
| |
22 | g.49913476G>T | CA412079983 | ALG12 | c.204C>A (p.Phe68Leu)
| |
22 | g.49913477A>C | CA412079991 | ALG12 | c.203T>G (p.Phe68Cys)
| |
22 | g.49913477A>G | CA412079993 | ALG12 | c.203T>C (p.Phe68Ser)
| |
22 | g.49913477A>T | CA412079998 | ALG12 | c.203T>A (p.Phe68Tyr)
| |
22 | g.49913478A>C | CA412080013 | ALG12 | c.202T>G (p.Phe68Val)
| |
22 | g.49913478A>G | CA412080000 | ALG12 | c.202T>C (p.Phe68Leu)
| |
22 | g.49913478A>T | CA412080006 | ALG12 | c.202T>A (p.Phe68Ile)
| |
22 | g.49913479C>A | CA515106733 | ALG12 | c.201G>T (p.Thr67=)
| |
22 | g.49913479C= | CA2410564762 | ALG12 | c.201G= (p.Thr67=)
| |
22 | g.49913479C>G | CA515106735 | ALG12 | c.201G>C (p.Thr67=)
| |
22 | g.49913479C>T | CA10300699 | ALG12 | c.201G>A (p.Thr67=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913480G>A | CA252770 | ALG12 | c.200C>T (p.Thr67Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
22 | g.49913480G>C | CA412080027 | ALG12 | c.200C>G (p.Thr67Arg)
| |
22 | g.49913480G= | CA2410564763 | ALG12 | c.200C= (p.Thr67=)
| |
22 | g.49913480G>T | CA412080028 | ALG12 | c.200C>A (p.Thr67Lys)
| |
22 | g.49913481T>A | CA412080029 | ALG12 | c.199A>T (p.Thr67Ser)
| |
22 | g.49913481T>C | CA412080030 | ALG12 | c.199A>G (p.Thr67Ala)
| |
22 | g.49913481T>G | CA412080031 | ALG12 | c.199A>C (p.Thr67Pro)
| |
22 | g.49913482C>A | CA412080034 | ALG12 | c.198G>T (p.Arg66Ser)
| |
22 | g.49913482C= | CA2410564764 | ALG12 | c.198G= (p.Arg66=)
| |
22 | g.49913482C>G | CA325433411 | ALG12 | c.198G>C (p.Arg66Ser)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913482C>T | CA515106741 | ALG12 | c.198G>A (p.Arg66=)
| |
22 | g.49913483C>A | CA412080039 | ALG12 | c.197G>T (p.Arg66Met)
| |
22 | g.49913483C>G | CA412080047 | ALG12 | c.197G>C (p.Arg66Thr)
| |
22 | g.49913483C>T | CA412080050 | ALG12 | c.197G>A (p.Arg66Lys)
| |
22 | g.49913484T>A | CA412080067 | ALG12 | c.196A>T (p.Arg66Trp)
| |
22 | g.49913484T>C | CA412080055 | ALG12 | c.196A>G (p.Arg66Gly)
| |
22 | g.49913484T>G | CA515106744 | ALG12 | c.196A>C (p.Arg66=)
| |
22 | g.49913485G>A | CA515106745 | ALG12 | c.195C>T (p.Pro65=)
| |
22 | g.49913485G>C | CA515106746 | ALG12 | c.195C>G (p.Pro65=)
| |
22 | g.49913485G>T | CA515106748 | ALG12 | c.195C>A (p.Pro65=)
| |
22 | g.49913488del | CA2531048268 | ALG12 | c.195del (p.Arg66GlyfsTer8)
| |
22 | g.49913486G>A | CA412080070 | ALG12 | c.194C>T (p.Pro65Leu)
| |
22 | g.49913486G>C | CA412080071 | ALG12 | c.194C>G (p.Pro65Arg)
| |
22 | g.49913486G>T | CA412080073 | ALG12 | c.194C>A (p.Pro65His)
| |
22 | g.49913487G>A | CA10300700 | ALG12 | c.193C>T (p.Pro65Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.49913487G>C | CA412080081 | ALG12 | c.193C>G (p.Pro65Ala)
| |
22 | g.49913487G= | CA2410564765 | ALG12 | c.193C= (p.Pro65=)
| |
22 | g.49913487G>T | CA412080084 | ALG12 | c.193C>A (p.Pro65Thr)
| |
22 | g.49913488G>A | CA515106752 | ALG12 | c.192C>T (p.Val64=)
| gnomAD v4 |
22 | g.49913488G>C | CA515106754 | ALG12 | c.192C>G (p.Val64=)
| |
22 | g.49913488G= | CA2410564766 | ALG12 | c.192C= (p.Val64=)
| |
22 | g.49913488G>T | CA10300701 | ALG12 | c.192C>A (p.Val64=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913489A>C | CA412080114 | ALG12 | c.191T>G (p.Val64Gly)
| |
22 | g.49913489A>G | CA412080120 | ALG12 | c.191T>C (p.Val64Ala)
| |
22 | g.49913489A>T | CA412080117 | ALG12 | c.191T>A (p.Val64Asp)
| |
22 | g.49913489dup | CA640352371 | ALG12 | c.191dup (p.Arg66GlnfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913490C>A | CA412080150 | ALG12 | c.190G>T (p.Val64Phe)
| |
22 | g.49913490C= | CA2410564767 | ALG12 | c.190G= (p.Val64=)
| |
22 | g.49913490C>G | CA412080154 | ALG12 | c.190G>C (p.Val64Leu)
| |
22 | g.49913490C>T | CA10300702 | ALG12 | c.190G>A (p.Val64Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913491G>A | CA10300703 | ALG12 | c.189C>T (p.Val63=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913491G>C | CA515106756 | ALG12 | c.189C>G (p.Val63=)
| gnomAD v4 |
22 | g.49913491G= | CA2410564768 | ALG12 | c.189C= (p.Val63=)
| |
22 | g.49913491G>T | CA515106757 | ALG12 | c.189C>A (p.Val63=)
| ClinVar |
22 | g.49913492A>C | CA412080174 | ALG12 | c.188T>G (p.Val63Gly)
| gnomAD v4 |
22 | g.49913492A>G | CA412080167 | ALG12 | c.188T>C (p.Val63Ala)
| gnomAD v4 |
22 | g.49913492A>T | CA412080170 | ALG12 | c.188T>A (p.Val63Asp)
| |
22 | g.49913493C>A | CA412080181 | ALG12 | c.187G>T (p.Val63Phe)
| |
22 | g.49913493C>G | CA412080188 | ALG12 | c.187G>C (p.Val63Leu)
| |
22 | g.49913493C>T | CA412080191 | ALG12 | c.187G>A (p.Val63Ile)
| |
22 | g.49913494T>A | CA515106760 | ALG12 | c.186A>T (p.Gly62=)
| |
22 | g.49913494T>C | CA515106761 | ALG12 | c.186A>G (p.Gly62=)
| |
22 | g.49913494T>G | CA515106762 | ALG12 | c.186A>C (p.Gly62=)
| |
22 | g.49913495C>A | CA412080195 | ALG12 | c.185G>T (p.Gly62Val)
| |
22 | g.49913495C>G | CA412080199 | ALG12 | c.185G>C (p.Gly62Ala)
| |
22 | g.49913495C>T | CA412080203 | ALG12 | c.185G>A (p.Gly62Glu)
| |
22 | g.49913496C>A | CA412080205 | ALG12 | c.184G>T (p.Gly62Ter)
| |
22 | g.49913496C= | CA2410564769 | ALG12 | c.184G= (p.Gly62=)
| |
22 | g.49913496C>G | CA412080209 | ALG12 | c.184G>C (p.Gly62Arg)
| |
22 | g.49913496C>T | CA10300704 | ALG12 | c.184G>A (p.Gly62Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913497G>A | CA10300705 | ALG12 | c.183C>T (p.Pro61=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913497G>C | CA515106764 | ALG12 | c.183C>G (p.Pro61=)
| dbSNP gnomAD v4 |
22 | g.49913497G= | CA2410564770 | ALG12 | c.183C= (p.Pro61=)
| |
22 | g.49913497G>T | CA515106765 | ALG12 | c.183C>A (p.Pro61=)
| gnomAD v4 |
22 | g.49913498G>A | CA412080216 | ALG12 | c.182C>T (p.Pro61Leu)
| gnomAD v4 |
22 | g.49913498G>C | CA412080219 | ALG12 | c.182C>G (p.Pro61Arg)
| |
22 | g.49913498G= | CA2410564771 | ALG12 | c.182C= (p.Pro61=)
| |
22 | g.49913498G>T | CA412080222 | ALG12 | c.182C>A (p.Pro61His)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913499G>A | CA412080238 | ALG12 | c.181C>T (p.Pro61Ser)
| dbSNP gnomAD v4 COSMIC |
22 | g.49913499G>C | CA412080228 | ALG12 | c.181C>G (p.Pro61Ala)
| |
22 | g.49913499G= | CA2410564772 | ALG12 | c.181C= (p.Pro61=)
| |
22 | g.49913499G>T | CA412080234 | ALG12 | c.181C>A (p.Pro61Thr)
| |
22 | g.49913500G>A | CA10300706 | ALG12 | c.180C>T (p.Phe60=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.49913500G>C | CA412080241 | ALG12 | c.180C>G (p.Phe60Leu)
| |
22 | g.49913500G= | CA2410564773 | ALG12 | c.180C= (p.Phe60=)
| |
22 | g.49913500G>T | CA412080243 | ALG12 | c.180C>A (p.Phe60Leu)
| |
22 | g.49913501A>C | CA412080258 | ALG12 | c.179T>G (p.Phe60Cys)
| |
22 | g.49913501A>G | CA412080264 | ALG12 | c.179T>C (p.Phe60Ser)
| |
22 | g.49913501A>T | CA412080266 | ALG12 | c.179T>A (p.Phe60Tyr)
| |
22 | g.49913502A= | CA2410564774 | ALG12 | c.178T= (p.Phe60=)
| |
22 | g.49913502A>C | CA412080272 | ALG12 | c.178T>G (p.Phe60Val)
| |
22 | g.49913502A>G | CA412080271 | ALG12 | c.178T>C (p.Phe60Leu)
| |
22 | g.49913502A>T | CA412080270 | ALG12 | c.178T>A (p.Phe60Ile)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913503C>A | CA412080274 | ALG12 | c.177G>T (p.Glu59Asp)
| |
22 | g.49913503C= | CA2410564775 | ALG12 | c.177G= (p.Glu59=)
| |
22 | g.49913503C>G | CA412080276 | ALG12 | c.177G>C (p.Glu59Asp)
| |
22 | g.49913503C>T | CA10300707 | ALG12 | c.177G>A (p.Glu59=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913504T>A | CA412080283 | ALG12 | c.176A>T (p.Glu59Val)
| |
22 | g.49913504T>C | CA412080292 | ALG12 | c.176A>G (p.Glu59Gly)
| |
22 | g.49913504T>G | CA412080295 | ALG12 | c.176A>C (p.Glu59Ala)
| dbSNP gnomAD v4 |
22 | g.49913504T= | CA2410564776 | ALG12 | c.176A= (p.Glu59=)
| |