Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |