Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.7042164del | CA16620720 | LAMA1 | c.1243del (p.His415IlefsTer?) n.2258del | ClinVar dbSNP gnomAD v4 |
18 | g.7042164G>A | CA502473514 | LAMA1 | c.1242C>T (p.Leu414=) n.2257C>T | dbSNP gnomAD v2 COSMIC |
18 | g.7042164G>C | CA502473517 | LAMA1 | c.1242C>G (p.Leu414=) n.2257C>G | |
18 | g.7042164G= | CA2282706925 | LAMA1 | c.1242C= (p.Leu414=) n.2257C= | |
18 | g.7042164G>T | CA502473523 | LAMA1 | c.1242C>A (p.Leu414=) n.2257C>A | |
18 | g.7042165A>C | CA401836174 | LAMA1 | c.1241T>G (p.Leu414Arg) n.2256T>G | |
18 | g.7042165A>G | CA401836176 | LAMA1 | c.1241T>C (p.Leu414Pro) n.2256T>C | |
18 | g.7042165A>T | CA401836180 | LAMA1 | c.1241T>A (p.Leu414His) n.2256T>A | gnomAD v4 |
18 | g.7042166G>A | CA401836182 | LAMA1 | c.1240C>T (p.Leu414Phe) n.2255C>T | |
18 | g.7042166G>C | CA401836184 | LAMA1 | c.1240C>G (p.Leu414Val) n.2255C>G | |
18 | g.7042166G>T | CA401836187 | LAMA1 | c.1240C>A (p.Leu414Ile) n.2255C>A | gnomAD v4 |
18 | g.7042167G>A | CA502473545 | LAMA1 | c.1239C>T (p.Asp413=) n.2254C>T | |
18 | g.7042167G>C | CA401836189 | LAMA1 | c.1239C>G (p.Asp413Glu) n.2254C>G | |
18 | g.7042167G= | CA2282706926 | LAMA1 | c.1239C= (p.Asp413=) n.2254C= | |
18 | g.7042167G>T | CA8883060 | LAMA1 | c.1239C>A (p.Asp413Glu) n.2254C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.7042168T>A | CA401836196 | LAMA1 | c.1238A>T (p.Asp413Val) n.2253A>T | gnomAD v4 |
18 | g.7042168T>C | CA401836200 | LAMA1 | c.1238A>G (p.Asp413Gly) n.2253A>G | |
18 | g.7042168T>G | CA401836203 | LAMA1 | c.1238A>C (p.Asp413Ala) n.2253A>C | |
18 | g.7042169C>A | CA401836208 | LAMA1 | c.1237G>T (p.Asp413Tyr) n.2252G>T | gnomAD v4 |
18 | g.7042169C>G | CA401836211 | LAMA1 | c.1237G>C (p.Asp413His) n.2252G>C | |
18 | g.7042169C>T | CA401836213 | LAMA1 | c.1237G>A (p.Asp413Asn) n.2252G>A | COSMIC |
18 | g.7042170A>C | CA401836216 | LAMA1 | c.1236T>G (p.Asp412Glu) n.2251T>G | |
18 | g.7042170A>G | CA502473562 | LAMA1 | c.1236T>C (p.Asp412=) n.2251T>C | |
18 | g.7042170A>T | CA401836219 | LAMA1 | c.1236T>A (p.Asp412Glu) n.2251T>A | |
18 | g.7042171T>A | CA401836221 | LAMA1 | c.1235A>T (p.Asp412Val) n.2250A>T | |
18 | g.7042171T>C | CA8883061 | LAMA1 | c.1235A>G (p.Asp412Gly) n.2250A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.7042171T>G | CA401836228 | LAMA1 | c.1235A>C (p.Asp412Ala) n.2250A>C | |
18 | g.7042171T= | CA2282706927 | LAMA1 | c.1235A= (p.Asp412=) n.2250A= | |
18 | g.7042172C>A | CA401836232 | LAMA1 | c.1234G>T (p.Asp412Tyr) n.2249G>T | gnomAD v4 |
18 | g.7042172C>G | CA401836235 | LAMA1 | c.1234G>C (p.Asp412His) n.2249G>C | |
18 | g.7042172C>T | CA401836237 | LAMA1 | c.1234G>A (p.Asp412Asn) n.2249G>A | |
18 | g.7042173C>A | CA295758063 | LAMA1 | c.1233G>T (p.Lys411Asn) n.2248G>T | dbSNP |
18 | g.7042173C= | CA2282706928 | LAMA1 | c.1233G= (p.Lys411=) n.2248G= | |
18 | g.7042173C>G | CA401836241 | LAMA1 | c.1233G>C (p.Lys411Asn) n.2248G>C | |
18 | g.7042173C>T | CA502473594 | LAMA1 | c.1233G>A (p.Lys411=) n.2248G>A | ClinVar dbSNP gnomAD v4 |
18 | g.7042174T>A | CA401836247 | LAMA1 | c.1232A>T (p.Lys411Met) n.2247A>T | |
18 | g.7042174T>C | CA401836250 | LAMA1 | c.1232A>G (p.Lys411Arg) n.2247A>G | |
18 | g.7042174T>G | CA401836252 | LAMA1 | c.1232A>C (p.Lys411Thr) n.2247A>C | |
18 | g.7042175T>A | CA401836257 | LAMA1 | c.1231A>T (p.Lys411Ter) n.2246A>T | |
18 | g.7042175T>C | CA401836259 | LAMA1 | c.1231A>G (p.Lys411Glu) n.2246A>G | |
18 | g.7042175T>G | CA401836262 | LAMA1 | c.1231A>C (p.Lys411Gln) n.2246A>C | |
18 | g.7042176A>C | CA401836265 | LAMA1 | c.1230T>G (p.Ile410Met) n.2245T>G | |
18 | g.7042176A>G | CA502473608 | LAMA1 | c.1230T>C (p.Ile410=) n.2245T>C | |
18 | g.7042176A>T | CA502473612 | LAMA1 | c.1230T>A (p.Ile410=) n.2245T>A | |
18 | g.7042177A>C | CA401836268 | LAMA1 | c.1229T>G (p.Ile410Ser) n.2244T>G | |
18 | g.7042177A>G | CA401836270 | LAMA1 | c.1229T>C (p.Ile410Thr) n.2244T>C | gnomAD v4 |
18 | g.7042177A>T | CA401836274 | LAMA1 | c.1229T>A (p.Ile410Asn) n.2244T>A | |
18 | g.7042178T>A | CA401836277 | LAMA1 | c.1228A>T (p.Ile410Phe) n.2243A>T | |
18 | g.7042178T>C | CA401836280 | LAMA1 | c.1228A>G (p.Ile410Val) n.2243A>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.7042178T>G | CA401836283 | LAMA1 | c.1228A>C (p.Ile410Leu) n.2243A>C |