Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169552610_169552612del | CA2649036050 | F5 | c.1245_1247del (p.Glu415del) c.834_836del (p.Glu278del) | gnomAD v4 |
1 | g.169552607C>A | CA343128100 | F5 | c.1246G>T (p.Asp416Tyr) c.835G>T (p.Asp279Tyr) | |
1 | g.169552607C>G | CA343128104 | F5 | c.1246G>C (p.Asp416His) c.835G>C (p.Asp279His) | |
1 | g.169552607C>T | CA343128107 | F5 | c.1246G>A (p.Asp416Asn) c.835G>A (p.Asp279Asn) | |
1 | g.169552607_169552608delinsCT | CA1206146820 | F5 | c.1245_1246delinsAG (p.Glu415=) c.834_835delinsAG (p.Glu278=) | |
1 | g.169552608T>A | CA343128111 | F5 | c.1245A>T (p.Glu415Asp) c.834A>T (p.Glu278Asp) | |
1 | g.169552608T>C | CA421732521 | F5 | c.1245A>G (p.Glu415=) c.834A>G (p.Glu278=) | |
1 | g.169552608T>G | CA343128112 | F5 | c.1245A>C (p.Glu415Asp) c.834A>C (p.Glu278Asp) | gnomAD v4 |
1 | g.169552609del | CA527131283 | F5 | c.1245del (p.Asp416MetfsTer?) c.834del (p.Asp279MetfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552609T>A | CA343128115 | F5 | c.1244A>T (p.Glu415Val) c.833A>T (p.Glu278Val) | |
1 | g.169552609T>C | CA343128116 | F5 | c.1244A>G (p.Glu415Gly) c.833A>G (p.Glu278Gly) | |
1 | g.169552609T>G | CA343128118 | F5 | c.1244A>C (p.Glu415Ala) c.833A>C (p.Glu278Ala) | |
1 | g.169552610C>A | CA343128138 | F5 | c.1243G>T (p.Glu415Ter) c.832G>T (p.Glu278Ter) | |
1 | g.169552610C>G | CA343128135 | F5 | c.1243G>C (p.Glu415Gln) c.832G>C (p.Glu278Gln) | |
1 | g.169552610C>T | CA343128123 | F5 | c.1243G>A (p.Glu415Lys) c.832G>A (p.Glu278Lys) | |
1 | g.169552611T>A | CA343128140 | F5 | c.1242A>T (p.Lys414Asn) c.831A>T (p.Lys277Asn) | |
1 | g.169552611T>C | CA1234385 | F5 | c.1242A>G (p.Lys414=) c.831A>G (p.Lys277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552611T>G | CA343128155 | F5 | c.1242A>C (p.Lys414Asn) c.831A>C (p.Lys277Asn) | gnomAD v4 |
1 | g.169552611T= | CA1139773089 | F5 | c.1242A= (p.Lys414=) c.831A= (p.Lys277=) | |
1 | g.169552612T>A | CA343128163 | F5 | c.1241A>T (p.Lys414Ile) c.830A>T (p.Lys277Ile) | |
1 | g.169552612T>C | CA343128167 | F5 | c.1241A>G (p.Lys414Arg) c.830A>G (p.Lys277Arg) | |
1 | g.169552612T>G | CA343128169 | F5 | c.1241A>C (p.Lys414Thr) c.830A>C (p.Lys277Thr) | |
1 | g.169552613T>A | CA343128172 | F5 | c.1240A>T (p.Lys414Ter) c.829A>T (p.Lys277Ter) | |
1 | g.169552613T>C | CA343128176 | F5 | c.1240A>G (p.Lys414Glu) c.829A>G (p.Lys277Glu) | |
1 | g.169552613T>G | CA343128182 | F5 | c.1240A>C (p.Lys414Gln) c.829A>C (p.Lys277Gln) | |
1 | g.169552614C>A | CA343128185 | F5 | c.1239G>T (p.Met413Ile) c.828G>T (p.Met276Ile) | |
1 | g.169552614C>G | CA343128186 | F5 | c.1239G>C (p.Met413Ile) c.828G>C (p.Met276Ile) | |
1 | g.169552614C>T | CA343128188 | F5 | c.1239G>A (p.Met413Ile) c.828G>A (p.Met276Ile) | |
1 | g.169552615A= | CA1139773087 | F5 | c.1238T= (p.Met413=) c.827T= (p.Met276=) | |
1 | g.169552615A>C | CA343128202 | F5 | c.1238T>G (p.Met413Arg) c.827T>G (p.Met276Arg) | |
1 | g.169552615A>G | CA1234386 | F5 | c.1238T>C (p.Met413Thr) c.827T>C (p.Met276Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552615A>T | CA343128198 | F5 | c.1238T>A (p.Met413Lys) c.827T>A (p.Met276Lys) | dbSNP |
1 | g.169552616T>A | CA343128220 | F5 | c.1237A>T (p.Met413Leu) c.826A>T (p.Met276Leu) | |
1 | g.169552616T>C | CA343128228 | F5 | c.1237A>G (p.Met413Val) c.826A>G (p.Met276Val) | COSMIC |
1 | g.169552616T>G | CA343128231 | F5 | c.1237A>C (p.Met413Leu) c.826A>C (p.Met276Leu) | |
1 | g.169552616dup | CA1234387 | F5 | c.1237dup (p.Met413AsnfsTer?) c.826dup (p.Met276AsnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552617A>C | CA343128235 | F5 | c.1236T>G (p.Asn412Lys) c.825T>G (p.Asn275Lys) | |
1 | g.169552617A>G | CA421732525 | F5 | c.1236T>C (p.Asn412=) c.825T>C (p.Asn275=) | |
1 | g.169552617A>T | CA343128238 | F5 | c.1236T>A (p.Asn412Lys) c.825T>A (p.Asn275Lys) | |
1 | g.169552618T>A | CA343128243 | F5 | c.1235A>T (p.Asn412Ile) c.824A>T (p.Asn275Ile) | |
1 | g.169552618T>C | CA343128254 | F5 | c.1235A>G (p.Asn412Ser) c.824A>G (p.Asn275Ser) | COSMIC |
1 | g.169552618T>G | CA343128262 | F5 | c.1235A>C (p.Asn412Thr) c.824A>C (p.Asn275Thr) | |
1 | g.169552619T>A | CA343128275 | F5 | c.1234A>T (p.Asn412Tyr) c.823A>T (p.Asn275Tyr) | |
1 | g.169552619T>C | CA1234388 | F5 | c.1234A>G (p.Asn412Asp) c.823A>G (p.Asn275Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552619T>G | CA343128285 | F5 | c.1234A>C (p.Asn412His) c.823A>C (p.Asn275His) | |
1 | g.169552619T= | CA1206146842 | F5 | c.1234A= (p.Asn412=) c.823A= (p.Asn275=) | |
1 | g.169552620G>A | CA421732526 | F5 | c.1233C>T (p.Pro411=) c.822C>T (p.Pro274=) | |
1 | g.169552620G>C | CA421732527 | F5 | c.1233C>G (p.Pro411=) c.822C>G (p.Pro274=) | |
1 | g.169552620G>T | CA421732528 | F5 | c.1233C>A (p.Pro411=) c.822C>A (p.Pro274=) | |
1 | g.169552622del | CA2649036069 | F5 | c.1233del (p.Asn412IlefsTer2) c.822del (p.Asn275IlefsTer2) | gnomAD v4 |