Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.84031901G>A | CA150839 | SLC38A8 | c.598C>T (p.Gln200Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031901G>C | CA396938537 | SLC38A8 | c.598C>G (p.Gln200Glu) | gnomAD v4 |
16 | g.84031901G= | CA2238382227 | SLC38A8 | c.598C= (p.Gln200=) | |
16 | g.84031901G>T | CA396938539 | SLC38A8 | c.598C>A (p.Gln200Lys) | |
16 | g.84031904del | CA2634582730 | SLC38A8 | c.598del (p.Gln200ArgfsTer11) | gnomAD v4 |
16 | g.84031902G>A | CA8200175 | SLC38A8 | c.597C>T (p.Pro199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031902G>C | CA496764423 | SLC38A8 | c.597C>G (p.Pro199=) | gnomAD v4 |
16 | g.84031902G= | CA2238382228 | SLC38A8 | c.597C= (p.Pro199=) | |
16 | g.84031902G>T | CA496764422 | SLC38A8 | c.597C>A (p.Pro199=) | |
16 | g.84031903G>A | CA285457111 | SLC38A8 | c.596C>T (p.Pro199Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031903G>C | CA396938546 | SLC38A8 | c.596C>G (p.Pro199Arg) | |
16 | g.84031903G= | CA2238382229 | SLC38A8 | c.596C= (p.Pro199=) | |
16 | g.84031903G>T | CA396938549 | SLC38A8 | c.596C>A (p.Pro199His) | |
16 | g.84031904G>A | CA396938553 | SLC38A8 | c.595C>T (p.Pro199Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031904G>C | CA396938556 | SLC38A8 | c.595C>G (p.Pro199Ala) | dbSNP |
16 | g.84031904G= | CA2238382230 | SLC38A8 | c.595C= (p.Pro199=) | |
16 | g.84031904G>T | CA396938559 | SLC38A8 | c.595C>A (p.Pro199Thr) | |
16 | g.84031904_84031905delinsGC | CA2238382231 | SLC38A8 | c.594_595delinsGC (p.Trp198=) | |
16 | g.84031905C>A | CA396938567 | SLC38A8 | c.594G>T (p.Trp198Cys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031905C= | CA2238382232 | SLC38A8 | c.594G= (p.Trp198=) | |
16 | g.84031905C>G | CA396938565 | SLC38A8 | c.594G>C (p.Trp198Cys) | |
16 | g.84031905C>T | CA396938562 | SLC38A8 | c.594G>A (p.Trp198Ter) | dbSNP gnomAD v4 |
16 | g.84031906del | CA8200176 | SLC38A8 | c.594del (p.Trp198CysfsTer13) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031906C>A | CA396938570 | SLC38A8 | c.593G>T (p.Trp198Leu) | gnomAD v4 |
16 | g.84031906C= | CA2238382233 | SLC38A8 | c.593G= (p.Trp198=) | |
16 | g.84031906C>G | CA396938573 | SLC38A8 | c.593G>C (p.Trp198Ser) | |
16 | g.84031906C>T | CA396938576 | SLC38A8 | c.593G>A (p.Trp198Ter) | dbSNP |
16 | g.84031907A= | CA2238382234 | SLC38A8 | c.592T= (p.Trp198=) | |
16 | g.84031907A>C | CA396938580 | SLC38A8 | c.592T>G (p.Trp198Gly) | |
16 | g.84031907A>G | CA8200177 | SLC38A8 | c.592T>C (p.Trp198Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031907A>T | CA396938584 | SLC38A8 | c.592T>A (p.Trp198Arg) | dbSNP |
16 | g.84031908G>A | CA496764424 | SLC38A8 | c.591C>T (p.Leu197=) | |
16 | g.84031908G>C | CA496764425 | SLC38A8 | c.591C>G (p.Leu197=) | dbSNP |
16 | g.84031908G= | CA2238382235 | SLC38A8 | c.591C= (p.Leu197=) | |
16 | g.84031908G>T | CA496764426 | SLC38A8 | c.591C>A (p.Leu197=) | |
16 | g.84031909A>C | CA396938585 | SLC38A8 | c.590T>G (p.Leu197Arg) | |
16 | g.84031909A>G | CA396938587 | SLC38A8 | c.590T>C (p.Leu197Pro) | gnomAD v4 |
16 | g.84031909A>T | CA396938590 | SLC38A8 | c.590T>A (p.Leu197His) | |
16 | g.84031910G>A | CA8200178 | SLC38A8 | c.589C>T (p.Leu197Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031910G>C | CA396938595 | SLC38A8 | c.589C>G (p.Leu197Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031910G= | CA2238382236 | SLC38A8 | c.589C= (p.Leu197=) | |
16 | g.84031910G>T | CA396938598 | SLC38A8 | c.589C>A (p.Leu197Ile) | |
16 | g.84031911G>A | CA496764427 | SLC38A8 | c.588C>T (p.Tyr196=) | dbSNP gnomAD v4 |
16 | g.84031911G>C | CA396938603 | SLC38A8 | c.588C>G (p.Tyr196Ter) | |
16 | g.84031911G>T | CA396938600 | SLC38A8 | c.588C>A (p.Tyr196Ter) | |
16 | g.84031912T>A | CA396938607 | SLC38A8 | c.587A>T (p.Tyr196Phe) | |
16 | g.84031912T>C | CA396938613 | SLC38A8 | c.587A>G (p.Tyr196Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.84031912T>G | CA396938610 | SLC38A8 | c.587A>C (p.Tyr196Ser) | |
16 | g.84031912T= | CA2238382237 | SLC38A8 | c.587A= (p.Tyr196=) | |
16 | g.84031913A= | CA2238382238 | SLC38A8 | c.586T= (p.Tyr196=) |