Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.31265490G>A | CA8025152 | ITGAM | c.230G>A (p.Arg77His) c.15G>A (p.Pro5=) n.320G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31265490G>C | CA395683316 | ITGAM | c.230G>C (p.Arg77Pro) c.15G>C (p.Pro5=) n.320G>C | |
16 | g.31265490G= | CA2216992176 | ITGAM | c.230G= (p.Arg77=) c.15G= (p.Pro5=) n.320G= | |
16 | g.31265490G>T | CA395683320 | ITGAM | c.230G>T (p.Arg77Leu) c.15G>T (p.Pro5=) n.320G>T | gnomAD v4 |
16 | g.31265491C>A | CA494707469 | ITGAM | c.231C>A (p.Arg77=) c.16C>A (p.Pro6Thr) n.321C>A | gnomAD v4 |
16 | g.31265491C>G | CA494707471 | ITGAM | c.231C>G (p.Arg77=) c.16C>G (p.Pro6Ala) n.321C>G | |
16 | g.31265491C>T | CA494707473 | ITGAM | c.231C>T (p.Arg77=) c.16C>T (p.Pro6Ser) n.321C>T | |
16 | g.31265492C>A | CA395683324 | ITGAM | c.232C>A (p.Leu78Met) c.17C>A (p.Pro6His) n.322C>A | gnomAD v4 |
16 | g.31265492C>G | CA395683325 | ITGAM | c.232C>G (p.Leu78Val) c.17C>G (p.Pro6Arg) n.322C>G | |
16 | g.31265492C>T | CA494707475 | ITGAM | c.232C>T (p.Leu78=) c.17C>T (p.Pro6Leu) n.322C>T | |
16 | g.31265493del | CA2575976785 | ITGAM | c.233del (p.Leu78ArgfsTer8) c.18del (p.Ala7GlnfsTer3) n.323del | |
16 | g.31265493T>A | CA395683327 | ITGAM | c.233T>A (p.Leu78Gln) c.18T>A (p.Pro6=) n.323T>A | gnomAD v4 |
16 | g.31265493T>C | CA395683335 | ITGAM | c.233T>C (p.Leu78Pro) c.18T>C (p.Pro6=) n.323T>C | |
16 | g.31265493T>G | CA395683340 | ITGAM | c.233T>G (p.Leu78Arg) c.18T>G (p.Pro6=) n.323T>G | |
16 | g.31265494G>A | CA494707483 | ITGAM | c.234G>A (p.Leu78=) c.19G>A (p.Ala7Thr) n.324G>A | gnomAD v4 |
16 | g.31265494G>C | CA494707485 | ITGAM | c.234G>C (p.Leu78=) c.19G>C (p.Ala7Pro) n.324G>C | gnomAD v4 |
16 | g.31265494G= | CA2216992179 | ITGAM | c.234G= (p.Leu78=) c.19G= (p.Ala7=) n.324G= | |
16 | g.31265494G>T | CA494707487 | ITGAM | c.234G>T (p.Leu78=) c.19G>T (p.Ala7Ser) n.324G>T | dbSNP gnomAD v4 |
16 | g.31265495del | CA2632850838 | ITGAM | c.235del (p.Gln79ArgfsTer7) c.20del (p.Ala7GlufsTer3) n.325del | gnomAD v4 |
16 | g.31265495C>A | CA395683344 | ITGAM | c.235C>A (p.Gln79Lys) c.20C>A (p.Ala7Glu) n.325C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31265495C= | CA2216992181 | ITGAM | c.235C= (p.Gln79=) c.20C= (p.Ala7=) n.325C= | |
16 | g.31265495C>G | CA395683347 | ITGAM | c.235C>G (p.Gln79Glu) c.20C>G (p.Ala7Gly) n.325C>G | |
16 | g.31265495C>T | CA395683351 | ITGAM | c.235C>T (p.Gln79Ter) c.20C>T (p.Ala7Val) n.325C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31265496A= | CA2216992182 | ITGAM | c.236A= (p.Gln79=) c.21A= (p.Ala7=) n.326A= | |
16 | g.31265496A>C | CA395683357 | ITGAM | c.236A>C (p.Gln79Pro) c.21A>C (p.Ala7=) n.326A>C | |
16 | g.31265496A>G | CA395683362 | ITGAM | c.236A>G (p.Gln79Arg) c.21A>G (p.Ala7=) n.326A>G | gnomAD v4 |
16 | g.31265496A>T | CA395683363 | ITGAM | c.236A>T (p.Gln79Leu) c.21A>T (p.Ala7=) n.326A>T | |
16 | g.31265497G>A | CA494707496 | ITGAM | c.237G>A (p.Gln79=) c.22G>A (p.Gly8Arg) n.327G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31265497G>C | CA395683364 | ITGAM | c.237G>C (p.Gln79His) c.22G>C (p.Gly8Arg) n.327G>C | |
16 | g.31265497G= | CA2216992184 | ITGAM | c.237G= (p.Gln79=) c.22G= (p.Gly8=) n.327G= | |
16 | g.31265497G>T | CA395683365 | ITGAM | c.237G>T (p.Gln79His) c.22G>T (p.Gly8Trp) n.327G>T | gnomAD v4 |
16 | g.31265499dup | CA2632850839 | ITGAM | c.238+1dup c.23+1dup n.328+1dup | gnomAD v4 |
16 | g.31265498_31265501dup | CA280602647 | ITGAM | c.238_238+3dup c.23_23+3dup n.328_328+3dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31265498G>A | CA280602650 | ITGAM | c.238G>A (p.Val80Ile) c.23G>A (p.Gly8Glu) n.328G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31265498G>C | CA395683375 | ITGAM | c.238G>C (p.Val80Leu) c.23G>C (p.Gly8Ala) n.328G>C | |
16 | g.31265498G= | CA2216992188 | ITGAM | c.238G= (p.Val80=) c.23G= (p.Gly8=) n.328G= | |
16 | g.31265498G>T | CA395683368 | ITGAM | c.238G>T (p.Val80Phe) c.23G>T (p.Gly8Val) n.328G>T | gnomAD v4 |
16 | g.31265499G>A | CA395683382 | ITGAM | c.238+1G>A (n.238+1G>A) c.23+1G>A (n.23+1G>A) n.328+1G>A | gnomAD v4 |
16 | g.31265499G>C | CA395683378 | ITGAM | c.238+1G>C (n.238+1G>C) c.23+1G>C (n.23+1G>C) n.328+1G>C | |
16 | g.31265499G>T | CA395683379 | ITGAM | c.238+1G>T (n.238+1G>T) c.23+1G>T (n.23+1G>T) n.328+1G>T | gnomAD v4 |
16 | g.31265500T>A | CA395683387 | ITGAM | c.238+2T>A (n.238+2T>A) c.23+2T>A (n.23+2T>A) n.328+2T>A | gnomAD v4 |
16 | g.31265500T>C | CA395683390 | ITGAM | c.238+2T>C (n.238+2T>C) c.23+2T>C (n.23+2T>C) n.328+2T>C | gnomAD v4 |
16 | g.31265500T>G | CA395683396 | ITGAM | c.238+2T>G (n.238+2T>G) c.23+2T>G (n.23+2T>G) n.328+2T>G | dbSNP |
16 | g.31265500T= | CA2216992194 | ITGAM | c.238+2T= (n.238+2T=) c.23+2T= (n.23+2T=) n.328+2T= | |
16 | g.31265500_31265502delinsTGA | CA2216992193 | ITGAM | c.238+2_238+4delinsTGA (n.238+2_238+4delinsTGA) c.23+2_23+4delinsTGA (n.23+2_23+4delinsTGA) n.328+2_328+4delinsTGA | |
16 | g.31265501G>A | CA2632850840 | ITGAM | c.238+3G>A (n.238+3G>A) c.23+3G>A (n.23+3G>A) n.328+3G>A | gnomAD v4 |
16 | g.31265501G>T | CA2533200912 | ITGAM | c.238+3G>T (n.238+3G>T) c.23+3G>T (n.23+3G>T) n.328+3G>T | gnomAD v4 |
16 | g.31265502_31265503del | CA621877743 | ITGAM | c.238+4_238+5del (n.238+4_238+5del) c.23+4_23+5del (n.23+4_23+5del) n.328+4_328+5del | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31265502A>G | CA2632850841 | ITGAM | c.238+4A>G (n.238+4A>G) c.23+4A>G (n.23+4A>G) n.328+4A>G | gnomAD v4 |
16 | g.31265503G>T | CA2632850842 | ITGAM | c.238+5G>T (n.238+5G>T) c.23+5G>T (n.23+5G>T) n.328+5G>T | gnomAD v4 |