Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.20425419_20425499del | CA2655397079 | SCARF2 | c.2485_2565del (p.Thr829_Ala855del) c.2497_2577del (p.Thr833_Ala859del) c.2500_2580del (p.Thr834_Ala860del) | gnomAD v4 |
22 | g.20425432G>A | CA513694071 | SCARF2 | c.2544C>T (p.Arg848=) c.2556C>T (p.Arg852=) c.2559C>T (p.Arg853=) | gnomAD v4 |
22 | g.20425432G>C | CA513694073 | SCARF2 | c.2544C>G (p.Arg848=) c.2556C>G (p.Arg852=) c.2559C>G (p.Arg853=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425432G= | CA2396362429 | SCARF2 | c.2544C= (p.Arg848=) c.2556C= (p.Arg852=) c.2559C= (p.Arg853=) | |
22 | g.20425432G>T | CA513694070 | SCARF2 | c.2544C>A (p.Arg848=) c.2556C>A (p.Arg852=) c.2559C>A (p.Arg853=) | gnomAD v4 |
22 | g.20425433C>A | CA410737622 | SCARF2 | c.2543G>T (p.Arg848Leu) c.2555G>T (p.Arg852Leu) c.2558G>T (p.Arg853Leu) | gnomAD v4 |
22 | g.20425433C>G | CA410737625 | SCARF2 | c.2543G>C (p.Arg848Pro) c.2555G>C (p.Arg852Pro) c.2558G>C (p.Arg853Pro) | gnomAD v4 |
22 | g.20425433C>T | CA410737628 | SCARF2 | c.2543G>A (p.Arg848His) c.2555G>A (p.Arg852His) c.2558G>A (p.Arg853His) | gnomAD v4 |
22 | g.20425434G>A | CA410737631 | SCARF2 | c.2542C>T (p.Arg848Cys) c.2554C>T (p.Arg852Cys) c.2557C>T (p.Arg853Cys) | gnomAD v4 |
22 | g.20425434G>C | CA410737633 | SCARF2 | c.2542C>G (p.Arg848Gly) c.2554C>G (p.Arg852Gly) c.2557C>G (p.Arg853Gly) | |
22 | g.20425434G>T | CA410737636 | SCARF2 | c.2542C>A (p.Arg848Ser) c.2554C>A (p.Arg852Ser) c.2557C>A (p.Arg853Ser) | gnomAD v4 |
22 | g.20425435C>A | CA513694075 | SCARF2 | c.2541G>T (p.Pro847=) c.2553G>T (p.Pro851=) c.2556G>T (p.Pro852=) | gnomAD v4 |
22 | g.20425435C= | CA2396362430 | SCARF2 | c.2541G= (p.Pro847=) c.2553G= (p.Pro851=) c.2556G= (p.Pro852=) | |
22 | g.20425435C>G | CA513694077 | SCARF2 | c.2541G>C (p.Pro847=) c.2553G>C (p.Pro851=) c.2556G>C (p.Pro852=) | |
22 | g.20425435C>T | CA322181848 | SCARF2 | c.2541G>A (p.Pro847=) c.2553G>A (p.Pro851=) c.2556G>A (p.Pro852=) | dbSNP gnomAD v4 |
22 | g.20425436G>A | CA410737640 | SCARF2 | c.2540C>T (p.Pro847Leu) c.2552C>T (p.Pro851Leu) c.2555C>T (p.Pro852Leu) | gnomAD v4 |
22 | g.20425436G>C | CA410737646 | SCARF2 | c.2540C>G (p.Pro847Arg) c.2552C>G (p.Pro851Arg) c.2555C>G (p.Pro852Arg) | gnomAD v4 |
22 | g.20425436G= | CA2396362431 | SCARF2 | c.2540C= (p.Pro847=) c.2552C= (p.Pro851=) c.2555C= (p.Pro852=) | |
22 | g.20425436G>T | CA410737643 | SCARF2 | c.2540C>A (p.Pro847Gln) c.2552C>A (p.Pro851Gln) c.2555C>A (p.Pro852Gln) | dbSNP gnomAD v4 |
22 | g.20425437G>A | CA410737650 | SCARF2 | c.2539C>T (p.Pro847Ser) c.2551C>T (p.Pro851Ser) c.2554C>T (p.Pro852Ser) | gnomAD v4 |
22 | g.20425437G>C | CA410737653 | SCARF2 | c.2539C>G (p.Pro847Ala) c.2551C>G (p.Pro851Ala) c.2554C>G (p.Pro852Ala) | |
22 | g.20425437G>T | CA410737656 | SCARF2 | c.2539C>A (p.Pro847Thr) c.2551C>A (p.Pro851Thr) c.2554C>A (p.Pro852Thr) | gnomAD v4 |
22 | g.20425438C>A | CA513694081 | SCARF2 | c.2538G>T (p.Pro846=) c.2550G>T (p.Pro850=) c.2553G>T (p.Pro851=) | gnomAD v4 |
22 | g.20425438C= | CA2396362432 | SCARF2 | c.2538G= (p.Pro846=) c.2550G= (p.Pro850=) c.2553G= (p.Pro851=) | |
22 | g.20425438C>G | CA513694080 | SCARF2 | c.2538G>C (p.Pro846=) c.2550G>C (p.Pro850=) c.2553G>C (p.Pro851=) | dbSNP |
22 | g.20425438C>T | CA10112145 | SCARF2 | c.2538G>A (p.Pro846=) c.2550G>A (p.Pro850=) c.2553G>A (p.Pro851=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425439G>A | CA410737662 | SCARF2 | c.2537C>T (p.Pro846Leu) c.2549C>T (p.Pro850Leu) c.2552C>T (p.Pro851Leu) | gnomAD v4 |
22 | g.20425439G>C | CA410737665 | SCARF2 | c.2537C>G (p.Pro846Arg) c.2549C>G (p.Pro850Arg) c.2552C>G (p.Pro851Arg) | |
22 | g.20425439G>T | CA410737667 | SCARF2 | c.2537C>A (p.Pro846Gln) c.2549C>A (p.Pro850Gln) c.2552C>A (p.Pro851Gln) | gnomAD v4 |
22 | g.20425440G>A | CA410737671 | SCARF2 | c.2536C>T (p.Pro846Ser) c.2548C>T (p.Pro850Ser) c.2551C>T (p.Pro851Ser) | gnomAD v4 |
22 | g.20425440G>C | CA410737674 | SCARF2 | c.2536C>G (p.Pro846Ala) c.2548C>G (p.Pro850Ala) c.2551C>G (p.Pro851Ala) | |
22 | g.20425440G>T | CA410737677 | SCARF2 | c.2536C>A (p.Pro846Thr) c.2548C>A (p.Pro850Thr) c.2551C>A (p.Pro851Thr) | gnomAD v4 |
22 | g.20425441C>A | CA410737683 | SCARF2 | c.2535G>T (p.Lys845Asn) c.2547G>T (p.Lys849Asn) c.2550G>T (p.Lys850Asn) | gnomAD v4 |
22 | g.20425441C>G | CA410737681 | SCARF2 | c.2535G>C (p.Lys845Asn) c.2547G>C (p.Lys849Asn) c.2550G>C (p.Lys850Asn) | gnomAD v4 |
22 | g.20425441C>T | CA513694083 | SCARF2 | c.2535G>A (p.Lys845=) c.2547G>A (p.Lys849=) c.2550G>A (p.Lys850=) | gnomAD v4 |
22 | g.20425442T>A | CA410737688 | SCARF2 | c.2534A>T (p.Lys845Met) c.2546A>T (p.Lys849Met) c.2549A>T (p.Lys850Met) | |
22 | g.20425442T>C | CA410737691 | SCARF2 | c.2534A>G (p.Lys845Arg) c.2546A>G (p.Lys849Arg) c.2549A>G (p.Lys850Arg) | dbSNP gnomAD v4 |
22 | g.20425442T>G | CA410737694 | SCARF2 | c.2534A>C (p.Lys845Thr) c.2546A>C (p.Lys849Thr) c.2549A>C (p.Lys850Thr) | gnomAD v4 |
22 | g.20425442T= | CA2396362433 | SCARF2 | c.2534A= (p.Lys845=) c.2546A= (p.Lys849=) c.2549A= (p.Lys850=) | |
22 | g.20425443del | CA2655397087 | SCARF2 | c.2534del (p.Lys845SerfsTer?) c.2546del (p.Lys849SerfsTer?) c.2549del (p.Lys850SerfsTer?) | gnomAD v4 |
22 | g.20425443T>A | CA410737698 | SCARF2 | c.2533A>T (p.Lys845Ter) c.2545A>T (p.Lys849Ter) c.2548A>T (p.Lys850Ter) | gnomAD v4 |
22 | g.20425443T>C | CA410737700 | SCARF2 | c.2533A>G (p.Lys845Glu) c.2545A>G (p.Lys849Glu) c.2548A>G (p.Lys850Glu) | gnomAD v4 |
22 | g.20425443T>G | CA410737705 | SCARF2 | c.2533A>C (p.Lys845Gln) c.2545A>C (p.Lys849Gln) c.2548A>C (p.Lys850Gln) | |
22 | g.20425444_20425445del | CA2655397088 | SCARF2 | c.2532_2533del (p.Lys845AlafsTer?) c.2544_2545del (p.Lys849AlafsTer?) c.2547_2548del (p.Lys850AlafsTer?) | gnomAD v4 |
22 | g.20425444C>A | CA410737708 | SCARF2 | c.2532G>T (p.Gln844His) c.2544G>T (p.Gln848His) c.2547G>T (p.Gln849His) | gnomAD v4 |
22 | g.20425444C>G | CA410737711 | SCARF2 | c.2532G>C (p.Gln844His) c.2544G>C (p.Gln848His) c.2547G>C (p.Gln849His) | gnomAD v4 |
22 | g.20425444C>T | CA513694086 | SCARF2 | c.2532G>A (p.Gln844=) c.2544G>A (p.Gln848=) c.2547G>A (p.Gln849=) | gnomAD v4 |
22 | g.20425444_20425445delinsCT | CA2396362434 | SCARF2 | c.2531_2532delinsAG (p.Gln844=) c.2543_2544delinsAG (p.Gln848=) c.2546_2547delinsAG (p.Gln849=) | |
22 | g.20425445del | CA170612 | SCARF2 | c.2531del (p.Gln844ArgfsTer?) c.2543del (p.Gln848ArgfsTer?) c.2546del (p.Gln849ArgfsTer?) | ClinVar dbSNP |
22 | g.20425445T>A | CA410737715 | SCARF2 | c.2531A>T (p.Gln844Leu) c.2543A>T (p.Gln848Leu) c.2546A>T (p.Gln849Leu) |