Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.65077620A= | CA2183440360 | KBTBD13 | c.805A= (p.Arg269=) | |
15 | g.65077620A>C | CA490899165 | KBTBD13 | c.805A>C (p.Arg269=) | |
15 | g.65077620A>G | CA392863509 | KBTBD13 | c.805A>G (p.Arg269Gly) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077620A>T | CA392863514 | KBTBD13 | c.805A>T (p.Arg269Trp) | gnomAD v4 |
15 | g.65077621G>A | CA392863522 | KBTBD13 | c.806G>A (p.Arg269Lys) | gnomAD v4 |
15 | g.65077621G>C | CA392863525 | KBTBD13 | c.806G>C (p.Arg269Thr) | gnomAD v4 |
15 | g.65077621G= | CA2183440364 | KBTBD13 | c.806G= (p.Arg269=) | |
15 | g.65077621G>T | CA392863528 | KBTBD13 | c.806G>T (p.Arg269Met) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077622G>A | CA490899168 | KBTBD13 | c.807G>A (p.Arg269=) | dbSNP gnomAD v4 |
15 | g.65077622G>C | CA392863541 | KBTBD13 | c.807G>C (p.Arg269Ser) | |
15 | g.65077622G= | CA2183440367 | KBTBD13 | c.807G= (p.Arg269=) | |
15 | g.65077622G>T | CA392863549 | KBTBD13 | c.807G>T (p.Arg269Ser) | gnomAD v4 |
15 | g.65077623A>C | CA392863553 | KBTBD13 | c.808A>C (p.Thr270Pro) | |
15 | g.65077623A>G | CA392863571 | KBTBD13 | c.808A>G (p.Thr270Ala) | |
15 | g.65077623A>T | CA392863564 | KBTBD13 | c.808A>T (p.Thr270Ser) | |
15 | g.65077624C>A | CA392863575 | KBTBD13 | c.809C>A (p.Thr270Lys) | gnomAD v4 |
15 | g.65077624C= | CA2183440369 | KBTBD13 | c.809C= (p.Thr270=) | |
15 | g.65077624C>G | CA392863578 | KBTBD13 | c.809C>G (p.Thr270Arg) | dbSNP gnomAD v4 |
15 | g.65077624C>T | CA7613987 | KBTBD13 | c.809C>T (p.Thr270Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077625G>A | CA490899171 | KBTBD13 | c.810G>A (p.Thr270=) | gnomAD v4 |
15 | g.65077625G>C | CA271504141 | KBTBD13 | c.810G>C (p.Thr270=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077625G= | CA2183440372 | KBTBD13 | c.810G= (p.Thr270=) | |
15 | g.65077625G>T | CA490899175 | KBTBD13 | c.810G>T (p.Thr270=) | gnomAD v4 |
15 | g.65077626C>A | CA392863584 | KBTBD13 | c.811C>A (p.Pro271Thr) | gnomAD v4 |
15 | g.65077626C= | CA2183440377 | KBTBD13 | c.811C= (p.Pro271=) | |
15 | g.65077626C>G | CA392863587 | KBTBD13 | c.811C>G (p.Pro271Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077626C>T | CA392863590 | KBTBD13 | c.811C>T (p.Pro271Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077628del | CA2628987456 | KBTBD13 | c.813del (p.Ile272SerfsTer?) | gnomAD v4 |
15 | g.65077627C>A | CA392863593 | KBTBD13 | c.812C>A (p.Pro271His) | gnomAD v4 |
15 | g.65077627C= | CA2183440379 | KBTBD13 | c.812C= (p.Pro271=) | |
15 | g.65077627C>G | CA392863596 | KBTBD13 | c.812C>G (p.Pro271Arg) | gnomAD v4 |
15 | g.65077627C>T | CA271504161 | KBTBD13 | c.812C>T (p.Pro271Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077628C>A | CA490899176 | KBTBD13 | c.813C>A (p.Pro271=) | gnomAD v4 |
15 | g.65077628C= | CA2183440385 | KBTBD13 | c.813C= (p.Pro271=) | |
15 | g.65077628C>G | CA490899178 | KBTBD13 | c.813C>G (p.Pro271=) | |
15 | g.65077628C>T | CA271504169 | KBTBD13 | c.813C>T (p.Pro271=) | dbSNP gnomAD v4 |
15 | g.65077629A>C | CA392863604 | KBTBD13 | c.814A>C (p.Ile272Leu) | gnomAD v4 |
15 | g.65077629A>G | CA392863608 | KBTBD13 | c.814A>G (p.Ile272Val) | gnomAD v4 |
15 | g.65077629A>T | CA392863610 | KBTBD13 | c.814A>T (p.Ile272Phe) | |
15 | g.65077630T>A | CA7613988 | KBTBD13 | c.815T>A (p.Ile272Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077630T>C | CA392863620 | KBTBD13 | c.815T>C (p.Ile272Thr) | gnomAD v4 |
15 | g.65077630T>G | CA392863640 | KBTBD13 | c.815T>G (p.Ile272Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077630T= | CA2183440386 | KBTBD13 | c.815T= (p.Ile272=) | |
15 | g.65077631C>A | CA490899184 | KBTBD13 | c.816C>A (p.Ile272=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077631C= | CA2183440388 | KBTBD13 | c.816C= (p.Ile272=) | |
15 | g.65077631C>G | CA7613989 | KBTBD13 | c.816C>G (p.Ile272Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077631C>T | CA490899188 | KBTBD13 | c.816C>T (p.Ile272=) | gnomAD v4 |
15 | g.65077632A= | CA2183440391 | KBTBD13 | c.817A= (p.Ser273=) | |
15 | g.65077632A>C | CA392863648 | KBTBD13 | c.817A>C (p.Ser273Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077632A>G | CA392863653 | KBTBD13 | c.817A>G (p.Ser273Gly) | gnomAD v4 |