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