Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23915246_23915247del | CA2576473116 | LAMA3 | c.2818-43_2818-42del (n.2818-43_2818-42del) c.7645-43_7645-42del (n.7645-43_7645-42del) c.4240-43_4240-42del (n.4240-43_4240-42del) c.7477-43_7477-42del (n.7477-43_7477-42del) c.2423-43_2423-42del c.2650-43_2650-42del (n.2650-43_2650-42del) n.2223-43_2223-42del c.7672-43_7672-42del (n.7672-43_7672-42del) c.7663-43_7663-42del (n.7663-43_7663-42del) c.7654-43_7654-42del (n.7654-43_7654-42del) c.7540-43_7540-42del (n.7540-43_7540-42del) c.7375-43_7375-42del (n.7375-43_7375-42del) c.5524-43_5524-42del (n.5524-43_5524-42del) c.3214-43_3214-42del (n.3214-43_3214-42del) n.7913-43_7913-42del | |
18 | g.23915246G>A | CA2576473118 | LAMA3 | c.2818-43G>A (n.2818-43G>A) c.7645-43G>A (n.7645-43G>A) c.4240-43G>A (n.4240-43G>A) c.7477-43G>A (n.7477-43G>A) c.2423-43G>A c.2650-43G>A (n.2650-43G>A) n.2223-43G>A c.7672-43G>A (n.7672-43G>A) c.7663-43G>A (n.7663-43G>A) c.7654-43G>A (n.7654-43G>A) c.7540-43G>A (n.7540-43G>A) c.7375-43G>A (n.7375-43G>A) c.5524-43G>A (n.5524-43G>A) c.3214-43G>A (n.3214-43G>A) n.7913-43G>A | gnomAD v4 |
18 | g.23915246G= | CA2290328873 | LAMA3 | c.2818-43G= (n.2818-43G=) c.7645-43G= (n.7645-43G=) c.4240-43G= (n.4240-43G=) c.7477-43G= (n.7477-43G=) c.2423-43G= c.2650-43G= (n.2650-43G=) n.2223-43G= c.7672-43G= (n.7672-43G=) c.7663-43G= (n.7663-43G=) c.7654-43G= (n.7654-43G=) c.7540-43G= (n.7540-43G=) c.7375-43G= (n.7375-43G=) c.5524-43G= (n.5524-43G=) c.3214-43G= (n.3214-43G=) n.7913-43G= | |
18 | g.23915246G>T | CA8916708 | LAMA3 | c.2818-43G>T (n.2818-43G>T) c.7645-43G>T (n.7645-43G>T) c.4240-43G>T (n.4240-43G>T) c.7477-43G>T (n.7477-43G>T) c.2423-43G>T c.2650-43G>T (n.2650-43G>T) n.2223-43G>T c.7672-43G>T (n.7672-43G>T) c.7663-43G>T (n.7663-43G>T) c.7654-43G>T (n.7654-43G>T) c.7540-43G>T (n.7540-43G>T) c.7375-43G>T (n.7375-43G>T) c.5524-43G>T (n.5524-43G>T) c.3214-43G>T (n.3214-43G>T) n.7913-43G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23915246_23915247insA | CA628685384 | LAMA3 | c.2818-43_2818-42insA (n.2818-43_2818-42insA) c.7645-43_7645-42insA (n.7645-43_7645-42insA) c.4240-43_4240-42insA (n.4240-43_4240-42insA) c.7477-43_7477-42insA (n.7477-43_7477-42insA) c.2423-43_2423-42insA c.2650-43_2650-42insA (n.2650-43_2650-42insA) n.2223-43_2223-42insA c.7672-43_7672-42insA (n.7672-43_7672-42insA) c.7663-43_7663-42insA (n.7663-43_7663-42insA) c.7654-43_7654-42insA (n.7654-43_7654-42insA) c.7540-43_7540-42insA (n.7540-43_7540-42insA) c.7375-43_7375-42insA (n.7375-43_7375-42insA) c.5524-43_5524-42insA (n.5524-43_5524-42insA) c.3214-43_3214-42insA (n.3214-43_3214-42insA) n.7913-43_7913-42insA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23915247T>G | CA2641297040 | LAMA3 | c.2818-42T>G (n.2818-42T>G) c.7645-42T>G (n.7645-42T>G) c.4240-42T>G (n.4240-42T>G) c.7477-42T>G (n.7477-42T>G) c.2423-42T>G c.2650-42T>G (n.2650-42T>G) n.2223-42T>G c.7672-42T>G (n.7672-42T>G) c.7663-42T>G (n.7663-42T>G) c.7654-42T>G (n.7654-42T>G) c.7540-42T>G (n.7540-42T>G) c.7375-42T>G (n.7375-42T>G) c.5524-42T>G (n.5524-42T>G) c.3214-42T>G (n.3214-42T>G) n.7913-42T>G | gnomAD v4 |
18 | g.23915248C>A | CA2641297043 | LAMA3 | c.2818-41C>A (n.2818-41C>A) c.7645-41C>A (n.7645-41C>A) c.4240-41C>A (n.4240-41C>A) c.7477-41C>A (n.7477-41C>A) c.2423-41C>A c.2650-41C>A (n.2650-41C>A) n.2223-41C>A c.7672-41C>A (n.7672-41C>A) c.7663-41C>A (n.7663-41C>A) c.7654-41C>A (n.7654-41C>A) c.7540-41C>A (n.7540-41C>A) c.7375-41C>A (n.7375-41C>A) c.5524-41C>A (n.5524-41C>A) c.3214-41C>A (n.3214-41C>A) n.7913-41C>A | gnomAD v4 |
18 | g.23915248C>T | CA2641297044 | LAMA3 | c.2818-41C>T (n.2818-41C>T) c.7645-41C>T (n.7645-41C>T) c.4240-41C>T (n.4240-41C>T) c.7477-41C>T (n.7477-41C>T) c.2423-41C>T c.2650-41C>T (n.2650-41C>T) n.2223-41C>T c.7672-41C>T (n.7672-41C>T) c.7663-41C>T (n.7663-41C>T) c.7654-41C>T (n.7654-41C>T) c.7540-41C>T (n.7540-41C>T) c.7375-41C>T (n.7375-41C>T) c.5524-41C>T (n.5524-41C>T) c.3214-41C>T (n.3214-41C>T) n.7913-41C>T | gnomAD v4 |
18 | g.23915249C>A | CA297109472 | LAMA3 | c.2818-40C>A (n.2818-40C>A) c.7645-40C>A (n.7645-40C>A) c.4240-40C>A (n.4240-40C>A) c.7477-40C>A (n.7477-40C>A) c.2423-40C>A c.2650-40C>A (n.2650-40C>A) n.2223-40C>A c.7672-40C>A (n.7672-40C>A) c.7663-40C>A (n.7663-40C>A) c.7654-40C>A (n.7654-40C>A) c.7540-40C>A (n.7540-40C>A) c.7375-40C>A (n.7375-40C>A) c.5524-40C>A (n.5524-40C>A) c.3214-40C>A (n.3214-40C>A) n.7913-40C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23915249C= | CA2290328875 | LAMA3 | c.2818-40C= (n.2818-40C=) c.7645-40C= (n.7645-40C=) c.4240-40C= (n.4240-40C=) c.7477-40C= (n.7477-40C=) c.2423-40C= c.2650-40C= (n.2650-40C=) n.2223-40C= c.7672-40C= (n.7672-40C=) c.7663-40C= (n.7663-40C=) c.7654-40C= (n.7654-40C=) c.7540-40C= (n.7540-40C=) c.7375-40C= (n.7375-40C=) c.5524-40C= (n.5524-40C=) c.3214-40C= (n.3214-40C=) n.7913-40C= | |
18 | g.23915252del | CA2576473119 | LAMA3 | c.2818-37del (n.2818-37del) c.7645-37del (n.7645-37del) c.4240-37del (n.4240-37del) c.7477-37del (n.7477-37del) c.2423-37del c.2650-37del (n.2650-37del) n.2223-37del c.7672-37del (n.7672-37del) c.7663-37del (n.7663-37del) c.7654-37del (n.7654-37del) c.7540-37del (n.7540-37del) c.7375-37del (n.7375-37del) c.5524-37del (n.5524-37del) c.3214-37del (n.3214-37del) n.7913-37del | |
18 | g.23915252T>C | CA777728737 | LAMA3 | c.2818-37T>C (n.2818-37T>C) c.7645-37T>C (n.7645-37T>C) c.4240-37T>C (n.4240-37T>C) c.7477-37T>C (n.7477-37T>C) c.2423-37T>C c.2650-37T>C (n.2650-37T>C) n.2223-37T>C c.7672-37T>C (n.7672-37T>C) c.7663-37T>C (n.7663-37T>C) c.7654-37T>C (n.7654-37T>C) c.7540-37T>C (n.7540-37T>C) c.7375-37T>C (n.7375-37T>C) c.5524-37T>C (n.5524-37T>C) c.3214-37T>C (n.3214-37T>C) n.7913-37T>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23915252T= | CA2290328877 | LAMA3 | c.2818-37T= (n.2818-37T=) c.7645-37T= (n.7645-37T=) c.4240-37T= (n.4240-37T=) c.7477-37T= (n.7477-37T=) c.2423-37T= c.2650-37T= (n.2650-37T=) n.2223-37T= c.7672-37T= (n.7672-37T=) c.7663-37T= (n.7663-37T=) c.7654-37T= (n.7654-37T=) c.7540-37T= (n.7540-37T=) c.7375-37T= (n.7375-37T=) c.5524-37T= (n.5524-37T=) c.3214-37T= (n.3214-37T=) n.7913-37T= | |
18 | g.23915253G>T | CA656921055 | LAMA3 | c.2818-36G>T (n.2818-36G>T) c.7645-36G>T (n.7645-36G>T) c.4240-36G>T (n.4240-36G>T) c.7477-36G>T (n.7477-36G>T) c.2423-36G>T c.2650-36G>T (n.2650-36G>T) n.2223-36G>T c.7672-36G>T (n.7672-36G>T) c.7663-36G>T (n.7663-36G>T) c.7654-36G>T (n.7654-36G>T) c.7540-36G>T (n.7540-36G>T) c.7375-36G>T (n.7375-36G>T) c.5524-36G>T (n.5524-36G>T) c.3214-36G>T (n.3214-36G>T) n.7913-36G>T | gnomAD v4 COSMIC |
18 | g.23915254T= | CA2290328878 | LAMA3 | c.2818-35T= (n.2818-35T=) c.7645-35T= (n.7645-35T=) c.4240-35T= (n.4240-35T=) c.7477-35T= (n.7477-35T=) c.2423-35T= c.2650-35T= (n.2650-35T=) n.2223-35T= c.7672-35T= (n.7672-35T=) c.7663-35T= (n.7663-35T=) c.7654-35T= (n.7654-35T=) c.7540-35T= (n.7540-35T=) c.7375-35T= (n.7375-35T=) c.5524-35T= (n.5524-35T=) c.3214-35T= (n.3214-35T=) n.7913-35T= | |
18 | g.23915255T>C | CA2641297046 | LAMA3 | c.2818-34T>C (n.2818-34T>C) c.7645-34T>C (n.7645-34T>C) c.4240-34T>C (n.4240-34T>C) c.7477-34T>C (n.7477-34T>C) c.2423-34T>C c.2650-34T>C (n.2650-34T>C) n.2223-34T>C c.7672-34T>C (n.7672-34T>C) c.7663-34T>C (n.7663-34T>C) c.7654-34T>C (n.7654-34T>C) c.7540-34T>C (n.7540-34T>C) c.7375-34T>C (n.7375-34T>C) c.5524-34T>C (n.5524-34T>C) c.3214-34T>C (n.3214-34T>C) n.7913-34T>C | gnomAD v4 |
18 | g.23915256_23915259dup | CA628685385 | LAMA3 | c.2818-33_2818-30dup (n.2818-33_2818-30dup) c.7645-33_7645-30dup (n.7645-33_7645-30dup) c.4240-33_4240-30dup (n.4240-33_4240-30dup) c.7477-33_7477-30dup (n.7477-33_7477-30dup) c.2423-33_2423-30dup c.2650-33_2650-30dup (n.2650-33_2650-30dup) n.2223-33_2223-30dup c.7672-33_7672-30dup (n.7672-33_7672-30dup) c.7663-33_7663-30dup (n.7663-33_7663-30dup) c.7654-33_7654-30dup (n.7654-33_7654-30dup) c.7540-33_7540-30dup (n.7540-33_7540-30dup) c.7375-33_7375-30dup (n.7375-33_7375-30dup) c.5524-33_5524-30dup (n.5524-33_5524-30dup) c.3214-33_3214-30dup (n.3214-33_3214-30dup) n.7913-33_7913-30dup | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23915256C>A | CA297109479 | LAMA3 | c.2818-33C>A (n.2818-33C>A) c.7645-33C>A (n.7645-33C>A) c.4240-33C>A (n.4240-33C>A) c.7477-33C>A (n.7477-33C>A) c.2423-33C>A c.2650-33C>A (n.2650-33C>A) n.2223-33C>A c.7672-33C>A (n.7672-33C>A) c.7663-33C>A (n.7663-33C>A) c.7654-33C>A (n.7654-33C>A) c.7540-33C>A (n.7540-33C>A) c.7375-33C>A (n.7375-33C>A) c.5524-33C>A (n.5524-33C>A) c.3214-33C>A (n.3214-33C>A) n.7913-33C>A | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23915256C= | CA2290328881 | LAMA3 | c.2818-33C= (n.2818-33C=) c.7645-33C= (n.7645-33C=) c.4240-33C= (n.4240-33C=) c.7477-33C= (n.7477-33C=) c.2423-33C= c.2650-33C= (n.2650-33C=) n.2223-33C= c.7672-33C= (n.7672-33C=) c.7663-33C= (n.7663-33C=) c.7654-33C= (n.7654-33C=) c.7540-33C= (n.7540-33C=) c.7375-33C= (n.7375-33C=) c.5524-33C= (n.5524-33C=) c.3214-33C= (n.3214-33C=) n.7913-33C= | |
18 | g.23915256C>G | CA8916709 | LAMA3 | c.2818-33C>G (n.2818-33C>G) c.7645-33C>G (n.7645-33C>G) c.4240-33C>G (n.4240-33C>G) c.7477-33C>G (n.7477-33C>G) c.2423-33C>G c.2650-33C>G (n.2650-33C>G) n.2223-33C>G c.7672-33C>G (n.7672-33C>G) c.7663-33C>G (n.7663-33C>G) c.7654-33C>G (n.7654-33C>G) c.7540-33C>G (n.7540-33C>G) c.7375-33C>G (n.7375-33C>G) c.5524-33C>G (n.5524-33C>G) c.3214-33C>G (n.3214-33C>G) n.7913-33C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23915256C>T | CA2641297051 | LAMA3 | c.2818-33C>T (n.2818-33C>T) c.7645-33C>T (n.7645-33C>T) c.4240-33C>T (n.4240-33C>T) c.7477-33C>T (n.7477-33C>T) c.2423-33C>T c.2650-33C>T (n.2650-33C>T) n.2223-33C>T c.7672-33C>T (n.7672-33C>T) c.7663-33C>T (n.7663-33C>T) c.7654-33C>T (n.7654-33C>T) c.7540-33C>T (n.7540-33C>T) c.7375-33C>T (n.7375-33C>T) c.5524-33C>T (n.5524-33C>T) c.3214-33C>T (n.3214-33C>T) n.7913-33C>T | gnomAD v4 |
18 | g.23915258A= | CA2290328882 | LAMA3 | c.2818-31A= (n.2818-31A=) c.7645-31A= (n.7645-31A=) c.4240-31A= (n.4240-31A=) c.7477-31A= (n.7477-31A=) c.2423-31A= c.2650-31A= (n.2650-31A=) n.2223-31A= c.7672-31A= (n.7672-31A=) c.7663-31A= (n.7663-31A=) c.7654-31A= (n.7654-31A=) c.7540-31A= (n.7540-31A=) c.7375-31A= (n.7375-31A=) c.5524-31A= (n.5524-31A=) c.3214-31A= (n.3214-31A=) n.7913-31A= | |
18 | g.23915258A>G | CA988399969 | LAMA3 | c.2818-31A>G (n.2818-31A>G) c.7645-31A>G (n.7645-31A>G) c.4240-31A>G (n.4240-31A>G) c.7477-31A>G (n.7477-31A>G) c.2423-31A>G c.2650-31A>G (n.2650-31A>G) n.2223-31A>G c.7672-31A>G (n.7672-31A>G) c.7663-31A>G (n.7663-31A>G) c.7654-31A>G (n.7654-31A>G) c.7540-31A>G (n.7540-31A>G) c.7375-31A>G (n.7375-31A>G) c.5524-31A>G (n.5524-31A>G) c.3214-31A>G (n.3214-31A>G) n.7913-31A>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23915259T>C | CA297109483 | LAMA3 | c.2818-30T>C (n.2818-30T>C) c.7645-30T>C (n.7645-30T>C) c.4240-30T>C (n.4240-30T>C) c.7477-30T>C (n.7477-30T>C) c.2423-30T>C c.2650-30T>C (n.2650-30T>C) n.2223-30T>C c.7672-30T>C (n.7672-30T>C) c.7663-30T>C (n.7663-30T>C) c.7654-30T>C (n.7654-30T>C) c.7540-30T>C (n.7540-30T>C) c.7375-30T>C (n.7375-30T>C) c.5524-30T>C (n.5524-30T>C) c.3214-30T>C (n.3214-30T>C) n.7913-30T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23915259T= | CA2290328885 | LAMA3 | c.2818-30T= (n.2818-30T=) c.7645-30T= (n.7645-30T=) c.4240-30T= (n.4240-30T=) c.7477-30T= (n.7477-30T=) c.2423-30T= c.2650-30T= (n.2650-30T=) n.2223-30T= c.7672-30T= (n.7672-30T=) c.7663-30T= (n.7663-30T=) c.7654-30T= (n.7654-30T=) c.7540-30T= (n.7540-30T=) c.7375-30T= (n.7375-30T=) c.5524-30T= (n.5524-30T=) c.3214-30T= (n.3214-30T=) n.7913-30T= | |
18 | g.23915260T>C | CA8916710 | LAMA3 | c.2818-29T>C (n.2818-29T>C) c.7645-29T>C (n.7645-29T>C) c.4240-29T>C (n.4240-29T>C) c.7477-29T>C (n.7477-29T>C) c.2423-29T>C c.2650-29T>C (n.2650-29T>C) n.2223-29T>C c.7672-29T>C (n.7672-29T>C) c.7663-29T>C (n.7663-29T>C) c.7654-29T>C (n.7654-29T>C) c.7540-29T>C (n.7540-29T>C) c.7375-29T>C (n.7375-29T>C) c.5524-29T>C (n.5524-29T>C) c.3214-29T>C (n.3214-29T>C) n.7913-29T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23915260T= | CA2290328886 | LAMA3 | c.2818-29T= (n.2818-29T=) c.7645-29T= (n.7645-29T=) c.4240-29T= (n.4240-29T=) c.7477-29T= (n.7477-29T=) c.2423-29T= c.2650-29T= (n.2650-29T=) n.2223-29T= c.7672-29T= (n.7672-29T=) c.7663-29T= (n.7663-29T=) c.7654-29T= (n.7654-29T=) c.7540-29T= (n.7540-29T=) c.7375-29T= (n.7375-29T=) c.5524-29T= (n.5524-29T=) c.3214-29T= (n.3214-29T=) n.7913-29T= | |
18 | g.23915261G>C | CA2290328888 | LAMA3 | c.2818-28G>C (n.2818-28G>C) c.7645-28G>C (n.7645-28G>C) c.4240-28G>C (n.4240-28G>C) c.7477-28G>C (n.7477-28G>C) c.2423-28G>C c.2650-28G>C (n.2650-28G>C) n.2223-28G>C c.7672-28G>C (n.7672-28G>C) c.7663-28G>C (n.7663-28G>C) c.7654-28G>C (n.7654-28G>C) c.7540-28G>C (n.7540-28G>C) c.7375-28G>C (n.7375-28G>C) c.5524-28G>C (n.5524-28G>C) c.3214-28G>C (n.3214-28G>C) n.7913-28G>C | dbSNP |
18 | g.23915261G= | CA2290328887 | LAMA3 | c.2818-28G= (n.2818-28G=) c.7645-28G= (n.7645-28G=) c.4240-28G= (n.4240-28G=) c.7477-28G= (n.7477-28G=) c.2423-28G= c.2650-28G= (n.2650-28G=) n.2223-28G= c.7672-28G= (n.7672-28G=) c.7663-28G= (n.7663-28G=) c.7654-28G= (n.7654-28G=) c.7540-28G= (n.7540-28G=) c.7375-28G= (n.7375-28G=) c.5524-28G= (n.5524-28G=) c.3214-28G= (n.3214-28G=) n.7913-28G= | |
18 | g.23915261G>T | CA2641297054 | LAMA3 | c.2818-28G>T (n.2818-28G>T) c.7645-28G>T (n.7645-28G>T) c.4240-28G>T (n.4240-28G>T) c.7477-28G>T (n.7477-28G>T) c.2423-28G>T c.2650-28G>T (n.2650-28G>T) n.2223-28G>T c.7672-28G>T (n.7672-28G>T) c.7663-28G>T (n.7663-28G>T) c.7654-28G>T (n.7654-28G>T) c.7540-28G>T (n.7540-28G>T) c.7375-28G>T (n.7375-28G>T) c.5524-28G>T (n.5524-28G>T) c.3214-28G>T (n.3214-28G>T) n.7913-28G>T | gnomAD v4 |
18 | g.23915262G>A | CA8916711 | LAMA3 | c.2818-27G>A (n.2818-27G>A) c.7645-27G>A (n.7645-27G>A) c.4240-27G>A (n.4240-27G>A) c.7477-27G>A (n.7477-27G>A) c.2423-27G>A c.2650-27G>A (n.2650-27G>A) n.2223-27G>A c.7672-27G>A (n.7672-27G>A) c.7663-27G>A (n.7663-27G>A) c.7654-27G>A (n.7654-27G>A) c.7540-27G>A (n.7540-27G>A) c.7375-27G>A (n.7375-27G>A) c.5524-27G>A (n.5524-27G>A) c.3214-27G>A (n.3214-27G>A) n.7913-27G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23915262G= | CA2290328890 | LAMA3 | c.2818-27G= (n.2818-27G=) c.7645-27G= (n.7645-27G=) c.4240-27G= (n.4240-27G=) c.7477-27G= (n.7477-27G=) c.2423-27G= c.2650-27G= (n.2650-27G=) n.2223-27G= c.7672-27G= (n.7672-27G=) c.7663-27G= (n.7663-27G=) c.7654-27G= (n.7654-27G=) c.7540-27G= (n.7540-27G=) c.7375-27G= (n.7375-27G=) c.5524-27G= (n.5524-27G=) c.3214-27G= (n.3214-27G=) n.7913-27G= | |
18 | g.23915265G>A | CA2641297055 | LAMA3 | c.2818-24G>A (n.2818-24G>A) c.7645-24G>A (n.7645-24G>A) c.4240-24G>A (n.4240-24G>A) c.7477-24G>A (n.7477-24G>A) c.2423-24G>A c.2650-24G>A (n.2650-24G>A) n.2223-24G>A c.7672-24G>A (n.7672-24G>A) c.7663-24G>A (n.7663-24G>A) c.7654-24G>A (n.7654-24G>A) c.7540-24G>A (n.7540-24G>A) c.7375-24G>A (n.7375-24G>A) c.5524-24G>A (n.5524-24G>A) c.3214-24G>A (n.3214-24G>A) n.7913-24G>A | gnomAD v4 |
18 | g.23915268G= | CA2290328892 | LAMA3 | c.2818-21G= (n.2818-21G=) c.7645-21G= (n.7645-21G=) c.4240-21G= (n.4240-21G=) c.7477-21G= (n.7477-21G=) c.2423-21G= c.2650-21G= (n.2650-21G=) n.2223-21G= c.7672-21G= (n.7672-21G=) c.7663-21G= (n.7663-21G=) c.7654-21G= (n.7654-21G=) c.7540-21G= (n.7540-21G=) c.7375-21G= (n.7375-21G=) c.5524-21G= (n.5524-21G=) c.3214-21G= (n.3214-21G=) n.7913-21G= | |
18 | g.23915268G>T | CA628685386 | LAMA3 | c.2818-21G>T (n.2818-21G>T) c.7645-21G>T (n.7645-21G>T) c.4240-21G>T (n.4240-21G>T) c.7477-21G>T (n.7477-21G>T) c.2423-21G>T c.2650-21G>T (n.2650-21G>T) n.2223-21G>T c.7672-21G>T (n.7672-21G>T) c.7663-21G>T (n.7663-21G>T) c.7654-21G>T (n.7654-21G>T) c.7540-21G>T (n.7540-21G>T) c.7375-21G>T (n.7375-21G>T) c.5524-21G>T (n.5524-21G>T) c.3214-21G>T (n.3214-21G>T) n.7913-21G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23915269A= | CA2290328893 | LAMA3 | c.2818-20A= (n.2818-20A=) c.7645-20A= (n.7645-20A=) c.4240-20A= (n.4240-20A=) c.7477-20A= (n.7477-20A=) c.2423-20A= c.2650-20A= (n.2650-20A=) n.2223-20A= c.7672-20A= (n.7672-20A=) c.7663-20A= (n.7663-20A=) c.7654-20A= (n.7654-20A=) c.7540-20A= (n.7540-20A=) c.7375-20A= (n.7375-20A=) c.5524-20A= (n.5524-20A=) c.3214-20A= (n.3214-20A=) n.7913-20A= | |
18 | g.23915269A>G | CA8916712 | LAMA3 | c.2818-20A>G (n.2818-20A>G) c.7645-20A>G (n.7645-20A>G) c.4240-20A>G (n.4240-20A>G) c.7477-20A>G (n.7477-20A>G) c.2423-20A>G c.2650-20A>G (n.2650-20A>G) n.2223-20A>G c.7672-20A>G (n.7672-20A>G) c.7663-20A>G (n.7663-20A>G) c.7654-20A>G (n.7654-20A>G) c.7540-20A>G (n.7540-20A>G) c.7375-20A>G (n.7375-20A>G) c.5524-20A>G (n.5524-20A>G) c.3214-20A>G (n.3214-20A>G) n.7913-20A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23915269A>T | CA628685387 | LAMA3 | c.2818-20A>T (n.2818-20A>T) c.7645-20A>T (n.7645-20A>T) c.4240-20A>T (n.4240-20A>T) c.7477-20A>T (n.7477-20A>T) c.2423-20A>T c.2650-20A>T (n.2650-20A>T) n.2223-20A>T c.7672-20A>T (n.7672-20A>T) c.7663-20A>T (n.7663-20A>T) c.7654-20A>T (n.7654-20A>T) c.7540-20A>T (n.7540-20A>T) c.7375-20A>T (n.7375-20A>T) c.5524-20A>T (n.5524-20A>T) c.3214-20A>T (n.3214-20A>T) n.7913-20A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23915270T>G | CA8916713 | LAMA3 | c.2818-19T>G (n.2818-19T>G) c.7645-19T>G (n.7645-19T>G) c.4240-19T>G (n.4240-19T>G) c.7477-19T>G (n.7477-19T>G) c.2423-19T>G c.2650-19T>G (n.2650-19T>G) n.2223-19T>G c.7672-19T>G (n.7672-19T>G) c.7663-19T>G (n.7663-19T>G) c.7654-19T>G (n.7654-19T>G) c.7540-19T>G (n.7540-19T>G) c.7375-19T>G (n.7375-19T>G) c.5524-19T>G (n.5524-19T>G) c.3214-19T>G (n.3214-19T>G) n.7913-19T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23915270T= | CA2290328894 | LAMA3 | c.2818-19T= (n.2818-19T=) c.7645-19T= (n.7645-19T=) c.4240-19T= (n.4240-19T=) c.7477-19T= (n.7477-19T=) c.2423-19T= c.2650-19T= (n.2650-19T=) n.2223-19T= c.7672-19T= (n.7672-19T=) c.7663-19T= (n.7663-19T=) c.7654-19T= (n.7654-19T=) c.7540-19T= (n.7540-19T=) c.7375-19T= (n.7375-19T=) c.5524-19T= (n.5524-19T=) c.3214-19T= (n.3214-19T=) n.7913-19T= | |
18 | g.23915271del | CA2697555323 | LAMA3 | c.2818-18del (n.2818-18del) c.7645-18del (n.7645-18del) c.4240-18del (n.4240-18del) c.7477-18del (n.7477-18del) c.2423-18del c.2650-18del (n.2650-18del) n.2223-18del c.7672-18del (n.7672-18del) c.7663-18del (n.7663-18del) c.7654-18del (n.7654-18del) c.7540-18del (n.7540-18del) c.7375-18del (n.7375-18del) c.5524-18del (n.5524-18del) c.3214-18del (n.3214-18del) n.7913-18del | ClinVar |
18 | g.23915273T>C | CA2290328897 | LAMA3 | c.2818-16T>C (n.2818-16T>C) c.7645-16T>C (n.7645-16T>C) c.4240-16T>C (n.4240-16T>C) c.7477-16T>C (n.7477-16T>C) c.2423-16T>C c.2650-16T>C (n.2650-16T>C) n.2223-16T>C c.7672-16T>C (n.7672-16T>C) c.7663-16T>C (n.7663-16T>C) c.7654-16T>C (n.7654-16T>C) c.7540-16T>C (n.7540-16T>C) c.7375-16T>C (n.7375-16T>C) c.5524-16T>C (n.5524-16T>C) c.3214-16T>C (n.3214-16T>C) n.7913-16T>C | dbSNP gnomAD v4 |
18 | g.23915273T>G | CA8916714 | LAMA3 | c.2818-16T>G (n.2818-16T>G) c.7645-16T>G (n.7645-16T>G) c.4240-16T>G (n.4240-16T>G) c.7477-16T>G (n.7477-16T>G) c.2423-16T>G c.2650-16T>G (n.2650-16T>G) n.2223-16T>G c.7672-16T>G (n.7672-16T>G) c.7663-16T>G (n.7663-16T>G) c.7654-16T>G (n.7654-16T>G) c.7540-16T>G (n.7540-16T>G) c.7375-16T>G (n.7375-16T>G) c.5524-16T>G (n.5524-16T>G) c.3214-16T>G (n.3214-16T>G) n.7913-16T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23915273T= | CA2290328896 | LAMA3 | c.2818-16T= (n.2818-16T=) c.7645-16T= (n.7645-16T=) c.4240-16T= (n.4240-16T=) c.7477-16T= (n.7477-16T=) c.2423-16T= c.2650-16T= (n.2650-16T=) n.2223-16T= c.7672-16T= (n.7672-16T=) c.7663-16T= (n.7663-16T=) c.7654-16T= (n.7654-16T=) c.7540-16T= (n.7540-16T=) c.7375-16T= (n.7375-16T=) c.5524-16T= (n.5524-16T=) c.3214-16T= (n.3214-16T=) n.7913-16T= | |
18 | g.23915276A= | CA2290328898 | LAMA3 | c.2818-13A= (n.2818-13A=) c.7645-13A= (n.7645-13A=) c.4240-13A= (n.4240-13A=) c.7477-13A= (n.7477-13A=) c.2423-13A= c.2650-13A= (n.2650-13A=) n.2223-13A= c.7672-13A= (n.7672-13A=) c.7663-13A= (n.7663-13A=) c.7654-13A= (n.7654-13A=) c.7540-13A= (n.7540-13A=) c.7375-13A= (n.7375-13A=) c.5524-13A= (n.5524-13A=) c.3214-13A= (n.3214-13A=) n.7913-13A= | |
18 | g.23915276A>T | CA777728752 | LAMA3 | c.2818-13A>T (n.2818-13A>T) c.7645-13A>T (n.7645-13A>T) c.4240-13A>T (n.4240-13A>T) c.7477-13A>T (n.7477-13A>T) c.2423-13A>T c.2650-13A>T (n.2650-13A>T) n.2223-13A>T c.7672-13A>T (n.7672-13A>T) c.7663-13A>T (n.7663-13A>T) c.7654-13A>T (n.7654-13A>T) c.7540-13A>T (n.7540-13A>T) c.7375-13A>T (n.7375-13A>T) c.5524-13A>T (n.5524-13A>T) c.3214-13A>T (n.3214-13A>T) n.7913-13A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23915278T>C | CA777728755 | LAMA3 | c.2818-11T>C (n.2818-11T>C) c.7645-11T>C (n.7645-11T>C) c.4240-11T>C (n.4240-11T>C) c.7477-11T>C (n.7477-11T>C) c.2423-11T>C c.2650-11T>C (n.2650-11T>C) n.2223-11T>C c.7672-11T>C (n.7672-11T>C) c.7663-11T>C (n.7663-11T>C) c.7654-11T>C (n.7654-11T>C) c.7540-11T>C (n.7540-11T>C) c.7375-11T>C (n.7375-11T>C) c.5524-11T>C (n.5524-11T>C) c.3214-11T>C (n.3214-11T>C) n.7913-11T>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23915278T>G | CA2641297059 | LAMA3 | c.2818-11T>G (n.2818-11T>G) c.7645-11T>G (n.7645-11T>G) c.4240-11T>G (n.4240-11T>G) c.7477-11T>G (n.7477-11T>G) c.2423-11T>G c.2650-11T>G (n.2650-11T>G) n.2223-11T>G c.7672-11T>G (n.7672-11T>G) c.7663-11T>G (n.7663-11T>G) c.7654-11T>G (n.7654-11T>G) c.7540-11T>G (n.7540-11T>G) c.7375-11T>G (n.7375-11T>G) c.5524-11T>G (n.5524-11T>G) c.3214-11T>G (n.3214-11T>G) n.7913-11T>G | gnomAD v4 |
18 | g.23915278T= | CA2290328899 | LAMA3 | c.2818-11T= (n.2818-11T=) c.7645-11T= (n.7645-11T=) c.4240-11T= (n.4240-11T=) c.7477-11T= (n.7477-11T=) c.2423-11T= c.2650-11T= (n.2650-11T=) n.2223-11T= c.7672-11T= (n.7672-11T=) c.7663-11T= (n.7663-11T=) c.7654-11T= (n.7654-11T=) c.7540-11T= (n.7540-11T=) c.7375-11T= (n.7375-11T=) c.5524-11T= (n.5524-11T=) c.3214-11T= (n.3214-11T=) n.7913-11T= | |
18 | g.23915280C>A | CA2641297060 | LAMA3 | c.2818-9C>A (n.2818-9C>A) c.7645-9C>A (n.7645-9C>A) c.4240-9C>A (n.4240-9C>A) c.7477-9C>A (n.7477-9C>A) c.2423-9C>A c.2650-9C>A (n.2650-9C>A) n.2223-9C>A c.7672-9C>A (n.7672-9C>A) c.7663-9C>A (n.7663-9C>A) c.7654-9C>A (n.7654-9C>A) c.7540-9C>A (n.7540-9C>A) c.7375-9C>A (n.7375-9C>A) c.5524-9C>A (n.5524-9C>A) c.3214-9C>A (n.3214-9C>A) n.7913-9C>A | gnomAD v4 |
18 | g.23915280_23915281delinsCA | CA2290328900 | LAMA3 | c.2818-9_2818-8delinsCA (n.2818-9_2818-8delinsCA) c.7645-9_7645-8delinsCA (n.7645-9_7645-8delinsCA) c.4240-9_4240-8delinsCA (n.4240-9_4240-8delinsCA) c.7477-9_7477-8delinsCA (n.7477-9_7477-8delinsCA) c.2423-9_2423-8delinsCA c.2650-9_2650-8delinsCA (n.2650-9_2650-8delinsCA) n.2223-9_2223-8delinsCA c.7672-9_7672-8delinsCA (n.7672-9_7672-8delinsCA) c.7663-9_7663-8delinsCA (n.7663-9_7663-8delinsCA) c.7654-9_7654-8delinsCA (n.7654-9_7654-8delinsCA) c.7540-9_7540-8delinsCA (n.7540-9_7540-8delinsCA) c.7375-9_7375-8delinsCA (n.7375-9_7375-8delinsCA) c.5524-9_5524-8delinsCA (n.5524-9_5524-8delinsCA) c.3214-9_3214-8delinsCA (n.3214-9_3214-8delinsCA) n.7913-9_7913-8delinsCA | |
18 | g.23915281del | CA2290328902 | LAMA3 | c.2818-8del (n.2818-8del) c.7645-8del (n.7645-8del) c.4240-8del (n.4240-8del) c.7477-8del (n.7477-8del) c.2423-8del c.2650-8del (n.2650-8del) n.2223-8del c.7672-8del (n.7672-8del) c.7663-8del (n.7663-8del) c.7654-8del (n.7654-8del) c.7540-8del (n.7540-8del) c.7375-8del (n.7375-8del) c.5524-8del (n.5524-8del) c.3214-8del (n.3214-8del) n.7913-8del | dbSNP |
18 | g.23915281A= | CA2290328903 | LAMA3 | c.2818-8A= (n.2818-8A=) c.7645-8A= (n.7645-8A=) c.4240-8A= (n.4240-8A=) c.7477-8A= (n.7477-8A=) c.2423-8A= c.2650-8A= (n.2650-8A=) n.2223-8A= c.7672-8A= (n.7672-8A=) c.7663-8A= (n.7663-8A=) c.7654-8A= (n.7654-8A=) c.7540-8A= (n.7540-8A=) c.7375-8A= (n.7375-8A=) c.5524-8A= (n.5524-8A=) c.3214-8A= (n.3214-8A=) n.7913-8A= | |
18 | g.23915281A>G | CA628685388 | LAMA3 | c.2818-8A>G (n.2818-8A>G) c.7645-8A>G (n.7645-8A>G) c.4240-8A>G (n.4240-8A>G) c.7477-8A>G (n.7477-8A>G) c.2423-8A>G c.2650-8A>G (n.2650-8A>G) n.2223-8A>G c.7672-8A>G (n.7672-8A>G) c.7663-8A>G (n.7663-8A>G) c.7654-8A>G (n.7654-8A>G) c.7540-8A>G (n.7540-8A>G) c.7375-8A>G (n.7375-8A>G) c.5524-8A>G (n.5524-8A>G) c.3214-8A>G (n.3214-8A>G) n.7913-8A>G | ClinVar dbSNP gnomAD v2 |
18 | g.23915283T>C | CA2641297061 | LAMA3 | c.2818-6T>C (n.2818-6T>C) c.7645-6T>C (n.7645-6T>C) c.4240-6T>C (n.4240-6T>C) c.7477-6T>C (n.7477-6T>C) c.2423-6T>C c.2650-6T>C (n.2650-6T>C) n.2223-6T>C c.7672-6T>C (n.7672-6T>C) c.7663-6T>C (n.7663-6T>C) c.7654-6T>C (n.7654-6T>C) c.7540-6T>C (n.7540-6T>C) c.7375-6T>C (n.7375-6T>C) c.5524-6T>C (n.5524-6T>C) c.3214-6T>C (n.3214-6T>C) n.7913-6T>C | gnomAD v4 |
18 | g.23915286C>A | CA2576473120 | LAMA3 | c.2818-3C>A (n.2818-3C>A) c.7645-3C>A (n.7645-3C>A) c.4240-3C>A (n.4240-3C>A) c.7477-3C>A (n.7477-3C>A) c.2423-3C>A c.2650-3C>A (n.2650-3C>A) n.2223-3C>A c.7672-3C>A (n.7672-3C>A) c.7663-3C>A (n.7663-3C>A) c.7654-3C>A (n.7654-3C>A) c.7540-3C>A (n.7540-3C>A) c.7375-3C>A (n.7375-3C>A) c.5524-3C>A (n.5524-3C>A) c.3214-3C>A (n.3214-3C>A) n.7913-3C>A | |
18 | g.23915286C= | CA2290328905 | LAMA3 | c.2818-3C= (n.2818-3C=) c.7645-3C= (n.7645-3C=) c.4240-3C= (n.4240-3C=) c.7477-3C= (n.7477-3C=) c.2423-3C= c.2650-3C= (n.2650-3C=) n.2223-3C= c.7672-3C= (n.7672-3C=) c.7663-3C= (n.7663-3C=) c.7654-3C= (n.7654-3C=) c.7540-3C= (n.7540-3C=) c.7375-3C= (n.7375-3C=) c.5524-3C= (n.5524-3C=) c.3214-3C= (n.3214-3C=) n.7913-3C= | |
18 | g.23915286C>G | CA628685389 | LAMA3 | c.2818-3C>G (n.2818-3C>G) c.7645-3C>G (n.7645-3C>G) c.4240-3C>G (n.4240-3C>G) c.7477-3C>G (n.7477-3C>G) c.2423-3C>G c.2650-3C>G (n.2650-3C>G) n.2223-3C>G c.7672-3C>G (n.7672-3C>G) c.7663-3C>G (n.7663-3C>G) c.7654-3C>G (n.7654-3C>G) c.7540-3C>G (n.7540-3C>G) c.7375-3C>G (n.7375-3C>G) c.5524-3C>G (n.5524-3C>G) c.3214-3C>G (n.3214-3C>G) n.7913-3C>G | dbSNP gnomAD v2 |
18 | g.23915287A>C | CA402058011 | LAMA3 | c.2818-2A>C (n.2818-2A>C) c.7645-2A>C (n.7645-2A>C) c.4240-2A>C (n.4240-2A>C) c.7477-2A>C (n.7477-2A>C) c.2423-2A>C c.2650-2A>C (n.2650-2A>C) n.2223-2A>C c.7672-2A>C (n.7672-2A>C) c.7663-2A>C (n.7663-2A>C) c.7654-2A>C (n.7654-2A>C) c.7540-2A>C (n.7540-2A>C) c.7375-2A>C (n.7375-2A>C) c.5524-2A>C (n.5524-2A>C) c.3214-2A>C (n.3214-2A>C) n.7913-2A>C | |
18 | g.23915287A>G | CA402058007 | LAMA3 | c.2818-2A>G (n.2818-2A>G) c.7645-2A>G (n.7645-2A>G) c.4240-2A>G (n.4240-2A>G) c.7477-2A>G (n.7477-2A>G) c.2423-2A>G c.2650-2A>G (n.2650-2A>G) n.2223-2A>G c.7672-2A>G (n.7672-2A>G) c.7663-2A>G (n.7663-2A>G) c.7654-2A>G (n.7654-2A>G) c.7540-2A>G (n.7540-2A>G) c.7375-2A>G (n.7375-2A>G) c.5524-2A>G (n.5524-2A>G) c.3214-2A>G (n.3214-2A>G) n.7913-2A>G | |
18 | g.23915287A>T | CA402058013 | LAMA3 | c.2818-2A>T (n.2818-2A>T) c.7645-2A>T (n.7645-2A>T) c.4240-2A>T (n.4240-2A>T) c.7477-2A>T (n.7477-2A>T) c.2423-2A>T c.2650-2A>T (n.2650-2A>T) n.2223-2A>T c.7672-2A>T (n.7672-2A>T) c.7663-2A>T (n.7663-2A>T) c.7654-2A>T (n.7654-2A>T) c.7540-2A>T (n.7540-2A>T) c.7375-2A>T (n.7375-2A>T) c.5524-2A>T (n.5524-2A>T) c.3214-2A>T (n.3214-2A>T) n.7913-2A>T | |
18 | g.23915288del | CA2811822935 | LAMA3 | c.2818-1del (n.2818-1del) c.7645-1del (n.7645-1del) c.4240-1del (n.4240-1del) c.7477-1del (n.7477-1del) c.2423-1del c.2650-1del (n.2650-1del) n.2223-1del c.7672-1del (n.7672-1del) c.7663-1del (n.7663-1del) c.7654-1del (n.7654-1del) c.7540-1del (n.7540-1del) c.7375-1del (n.7375-1del) c.5524-1del (n.5524-1del) c.3214-1del (n.3214-1del) n.7913-1del | |
18 | g.23915288G>A | CA402058018 | LAMA3 | c.2818-1G>A (n.2818-1G>A) c.7645-1G>A (n.7645-1G>A) c.4240-1G>A (n.4240-1G>A) c.7477-1G>A (n.7477-1G>A) c.2423-1G>A c.2650-1G>A (n.2650-1G>A) n.2223-1G>A c.7672-1G>A (n.7672-1G>A) c.7663-1G>A (n.7663-1G>A) c.7654-1G>A (n.7654-1G>A) c.7540-1G>A (n.7540-1G>A) c.7375-1G>A (n.7375-1G>A) c.5524-1G>A (n.5524-1G>A) c.3214-1G>A (n.3214-1G>A) n.7913-1G>A | gnomAD v4 |
18 | g.23915288G>C | CA402058020 | LAMA3 | c.2818-1G>C (n.2818-1G>C) c.7645-1G>C (n.7645-1G>C) c.4240-1G>C (n.4240-1G>C) c.7477-1G>C (n.7477-1G>C) c.2423-1G>C c.2650-1G>C (n.2650-1G>C) n.2223-1G>C c.7672-1G>C (n.7672-1G>C) c.7663-1G>C (n.7663-1G>C) c.7654-1G>C (n.7654-1G>C) c.7540-1G>C (n.7540-1G>C) c.7375-1G>C (n.7375-1G>C) c.5524-1G>C (n.5524-1G>C) c.3214-1G>C (n.3214-1G>C) n.7913-1G>C | dbSNP gnomAD v4 |
18 | g.23915288G= | CA2290328906 | LAMA3 | c.2818-1G= (n.2818-1G=) c.7645-1G= (n.7645-1G=) c.4240-1G= (n.4240-1G=) c.7477-1G= (n.7477-1G=) c.2423-1G= c.2650-1G= (n.2650-1G=) n.2223-1G= c.7672-1G= (n.7672-1G=) c.7663-1G= (n.7663-1G=) c.7654-1G= (n.7654-1G=) c.7540-1G= (n.7540-1G=) c.7375-1G= (n.7375-1G=) c.5524-1G= (n.5524-1G=) c.3214-1G= (n.3214-1G=) n.7913-1G= | |
18 | g.23915288G>T | CA402058023 | LAMA3 | c.2818-1G>T (n.2818-1G>T) c.7645-1G>T (n.7645-1G>T) c.4240-1G>T (n.4240-1G>T) c.7477-1G>T (n.7477-1G>T) c.2423-1G>T c.2650-1G>T (n.2650-1G>T) n.2223-1G>T c.7672-1G>T (n.7672-1G>T) c.7663-1G>T (n.7663-1G>T) c.7654-1G>T (n.7654-1G>T) c.7540-1G>T (n.7540-1G>T) c.7375-1G>T (n.7375-1G>T) c.5524-1G>T (n.5524-1G>T) c.3214-1G>T (n.3214-1G>T) n.7913-1G>T | COSMIC COSMIC |
18 | g.23915289C>A | CA402058026 | LAMA3 | c.2818C>A (p.Leu940Ile) c.7645C>A (p.Leu2549Ile) c.4240C>A (p.Leu1414Ile) c.7477C>A (p.Leu2493Ile) c.2423C>A c.2650C>A (p.Leu884Ile) n.2223C>A c.7672C>A (p.Leu2558Ile) c.7663C>A (p.Leu2555Ile) c.7654C>A (p.Leu2552Ile) c.7540C>A (p.Leu2514Ile) c.7375C>A (p.Leu2459Ile) c.5524C>A (p.Leu1842Ile) c.3214C>A (p.Leu1072Ile) n.7913C>A | |
18 | g.23915289C>G | CA402058029 | LAMA3 | c.2818C>G (p.Leu940Val) c.7645C>G (p.Leu2549Val) c.4240C>G (p.Leu1414Val) c.7477C>G (p.Leu2493Val) c.2423C>G c.2650C>G (p.Leu884Val) n.2223C>G c.7672C>G (p.Leu2558Val) c.7663C>G (p.Leu2555Val) c.7654C>G (p.Leu2552Val) c.7540C>G (p.Leu2514Val) c.7375C>G (p.Leu2459Val) c.5524C>G (p.Leu1842Val) c.3214C>G (p.Leu1072Val) n.7913C>G | |
18 | g.23915289C>T | CA402058032 | LAMA3 | c.2818C>T (p.Leu940Phe) c.7645C>T (p.Leu2549Phe) c.4240C>T (p.Leu1414Phe) c.7477C>T (p.Leu2493Phe) c.2423C>T c.2650C>T (p.Leu884Phe) n.2223C>T c.7672C>T (p.Leu2558Phe) c.7663C>T (p.Leu2555Phe) c.7654C>T (p.Leu2552Phe) c.7540C>T (p.Leu2514Phe) c.7375C>T (p.Leu2459Phe) c.5524C>T (p.Leu1842Phe) c.3214C>T (p.Leu1072Phe) n.7913C>T | gnomAD v4 |
18 | g.23915290T>A | CA402058035 | LAMA3 | c.2819T>A (p.Leu940His) c.7646T>A (p.Leu2549His) c.4241T>A (p.Leu1414His) c.7478T>A (p.Leu2493His) c.2424T>A c.2651T>A (p.Leu884His) n.2224T>A c.7673T>A (p.Leu2558His) c.7664T>A (p.Leu2555His) c.7655T>A (p.Leu2552His) c.7541T>A (p.Leu2514His) c.7376T>A (p.Leu2459His) c.5525T>A (p.Leu1842His) c.3215T>A (p.Leu1072His) n.7914T>A | |
18 | g.23915290T>C | CA402058039 | LAMA3 | c.2819T>C (p.Leu940Pro) c.7646T>C (p.Leu2549Pro) c.4241T>C (p.Leu1414Pro) c.7478T>C (p.Leu2493Pro) c.2424T>C c.2651T>C (p.Leu884Pro) n.2224T>C c.7673T>C (p.Leu2558Pro) c.7664T>C (p.Leu2555Pro) c.7655T>C (p.Leu2552Pro) c.7541T>C (p.Leu2514Pro) c.7376T>C (p.Leu2459Pro) c.5525T>C (p.Leu1842Pro) c.3215T>C (p.Leu1072Pro) n.7914T>C | |
18 | g.23915290T>G | CA402058041 | LAMA3 | c.2819T>G (p.Leu940Arg) c.7646T>G (p.Leu2549Arg) c.4241T>G (p.Leu1414Arg) c.7478T>G (p.Leu2493Arg) c.2424T>G c.2651T>G (p.Leu884Arg) n.2224T>G c.7673T>G (p.Leu2558Arg) c.7664T>G (p.Leu2555Arg) c.7655T>G (p.Leu2552Arg) c.7541T>G (p.Leu2514Arg) c.7376T>G (p.Leu2459Arg) c.5525T>G (p.Leu1842Arg) c.3215T>G (p.Leu1072Arg) n.7914T>G | |
18 | g.23915291T>A | CA503339177 | LAMA3 | c.2820T>A (p.Leu940=) c.7647T>A (p.Leu2549=) c.4242T>A (p.Leu1414=) c.7479T>A (p.Leu2493=) c.2425T>A c.2652T>A (p.Leu884=) n.2225T>A c.7674T>A (p.Leu2558=) c.7665T>A (p.Leu2555=) c.7656T>A (p.Leu2552=) c.7542T>A (p.Leu2514=) c.7377T>A (p.Leu2459=) c.5526T>A (p.Leu1842=) c.3216T>A (p.Leu1072=) n.7915T>A | |
18 | g.23915291T>C | CA8916715 | LAMA3 | c.2820T>C (p.Leu940=) c.7647T>C (p.Leu2549=) c.4242T>C (p.Leu1414=) c.7479T>C (p.Leu2493=) c.2425T>C c.2652T>C (p.Leu884=) n.2225T>C c.7674T>C (p.Leu2558=) c.7665T>C (p.Leu2555=) c.7656T>C (p.Leu2552=) c.7542T>C (p.Leu2514=) c.7377T>C (p.Leu2459=) c.5526T>C (p.Leu1842=) c.3216T>C (p.Leu1072=) n.7915T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23915291T>G | CA503339180 | LAMA3 | c.2820T>G (p.Leu940=) c.7647T>G (p.Leu2549=) c.4242T>G (p.Leu1414=) c.7479T>G (p.Leu2493=) c.2425T>G c.2652T>G (p.Leu884=) n.2225T>G c.7674T>G (p.Leu2558=) c.7665T>G (p.Leu2555=) c.7656T>G (p.Leu2552=) c.7542T>G (p.Leu2514=) c.7377T>G (p.Leu2459=) c.5526T>G (p.Leu1842=) c.3216T>G (p.Leu1072=) n.7915T>G | |
18 | g.23915291T= | CA2290328907 | LAMA3 | c.2820T= (p.Leu940=) c.7647T= (p.Leu2549=) c.4242T= (p.Leu1414=) c.7479T= (p.Leu2493=) c.2425T= c.2652T= (p.Leu884=) n.2225T= c.7674T= (p.Leu2558=) c.7665T= (p.Leu2555=) c.7656T= (p.Leu2552=) c.7542T= (p.Leu2514=) c.7377T= (p.Leu2459=) c.5526T= (p.Leu1842=) c.3216T= (p.Leu1072=) n.7915T= | |
18 | g.23915292C>A | CA8916716 | LAMA3 | c.2821C>A (p.Pro941Thr) c.7648C>A (p.Pro2550Thr) c.4243C>A (p.Pro1415Thr) c.7480C>A (p.Pro2494Thr) c.2426C>A c.2653C>A (p.Pro885Thr) n.2226C>A c.7675C>A (p.Pro2559Thr) c.7666C>A (p.Pro2556Thr) c.7657C>A (p.Pro2553Thr) c.7543C>A (p.Pro2515Thr) c.7378C>A (p.Pro2460Thr) c.5527C>A (p.Pro1843Thr) c.3217C>A (p.Pro1073Thr) n.7916C>A | dbSNP ExAC gnomAD v2 |
18 | g.23915292C= | CA2290328909 | LAMA3 | c.2821C= (p.Pro941=) c.7648C= (p.Pro2550=) c.4243C= (p.Pro1415=) c.7480C= (p.Pro2494=) c.2426C= c.2653C= (p.Pro885=) n.2226C= c.7675C= (p.Pro2559=) c.7666C= (p.Pro2556=) c.7657C= (p.Pro2553=) c.7543C= (p.Pro2515=) c.7378C= (p.Pro2460=) c.5527C= (p.Pro1843=) c.3217C= (p.Pro1073=) n.7916C= | |
18 | g.23915292C>G | CA402058049 | LAMA3 | c.2821C>G (p.Pro941Ala) c.7648C>G (p.Pro2550Ala) c.4243C>G (p.Pro1415Ala) c.7480C>G (p.Pro2494Ala) c.2426C>G c.2653C>G (p.Pro885Ala) n.2226C>G c.7675C>G (p.Pro2559Ala) c.7666C>G (p.Pro2556Ala) c.7657C>G (p.Pro2553Ala) c.7543C>G (p.Pro2515Ala) c.7378C>G (p.Pro2460Ala) c.5527C>G (p.Pro1843Ala) c.3217C>G (p.Pro1073Ala) n.7916C>G | |
18 | g.23915292C>T | CA402058052 | LAMA3 | c.2821C>T (p.Pro941Ser) c.7648C>T (p.Pro2550Ser) c.4243C>T (p.Pro1415Ser) c.7480C>T (p.Pro2494Ser) c.2426C>T c.2653C>T (p.Pro885Ser) n.2226C>T c.7675C>T (p.Pro2559Ser) c.7666C>T (p.Pro2556Ser) c.7657C>T (p.Pro2553Ser) c.7543C>T (p.Pro2515Ser) c.7378C>T (p.Pro2460Ser) c.5527C>T (p.Pro1843Ser) c.3217C>T (p.Pro1073Ser) n.7916C>T | |
18 | g.23915292_23915293insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA | CA2811822936 | LAMA3 | c.2821_2822insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro941GlnfsTer44) c.7648_7649insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2550GlnfsTer44) c.4243_4244insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro1415GlnfsTer44) c.7480_7481insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2494GlnfsTer44) c.2426_2427insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA c.2653_2654insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro885GlnfsTer44) n.2226_2227insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA c.7675_7676insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2559GlnfsTer44) c.7666_7667insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2556GlnfsTer44) c.7657_7658insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2553GlnfsTer44) c.7543_7544insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2515GlnfsTer44) c.7378_7379insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2460GlnfsTer44) c.5527_5528insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro1843GlnfsTer44) c.3217_3218insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro1073GlnfsTer44) n.7916_7917insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA | |
18 | g.23915293C>A | CA402058064 | LAMA3 | c.2822C>A (p.Pro941His) c.7649C>A (p.Pro2550His) c.4244C>A (p.Pro1415His) c.7481C>A (p.Pro2494His) c.2427C>A c.2654C>A (p.Pro885His) n.2227C>A c.7676C>A (p.Pro2559His) c.7667C>A (p.Pro2556His) c.7658C>A (p.Pro2553His) c.7544C>A (p.Pro2515His) c.7379C>A (p.Pro2460His) c.5528C>A (p.Pro1843His) c.3218C>A (p.Pro1073His) n.7917C>A | |
18 | g.23915293C>G | CA402058056 | LAMA3 | c.2822C>G (p.Pro941Arg) c.7649C>G (p.Pro2550Arg) c.4244C>G (p.Pro1415Arg) c.7481C>G (p.Pro2494Arg) c.2427C>G c.2654C>G (p.Pro885Arg) n.2227C>G c.7676C>G (p.Pro2559Arg) c.7667C>G (p.Pro2556Arg) c.7658C>G (p.Pro2553Arg) c.7544C>G (p.Pro2515Arg) c.7379C>G (p.Pro2460Arg) c.5528C>G (p.Pro1843Arg) c.3218C>G (p.Pro1073Arg) n.7917C>G | |
18 | g.23915293C>T | CA402058059 | LAMA3 | c.2822C>T (p.Pro941Leu) c.7649C>T (p.Pro2550Leu) c.4244C>T (p.Pro1415Leu) c.7481C>T (p.Pro2494Leu) c.2427C>T c.2654C>T (p.Pro885Leu) n.2227C>T c.7676C>T (p.Pro2559Leu) c.7667C>T (p.Pro2556Leu) c.7658C>T (p.Pro2553Leu) c.7544C>T (p.Pro2515Leu) c.7379C>T (p.Pro2460Leu) c.5528C>T (p.Pro1843Leu) c.3218C>T (p.Pro1073Leu) n.7917C>T | |
18 | g.23915294C>A | CA503339190 | LAMA3 | c.2823C>A (p.Pro941=) c.7650C>A (p.Pro2550=) c.4245C>A (p.Pro1415=) c.7482C>A (p.Pro2494=) c.2428C>A c.2655C>A (p.Pro885=) n.2228C>A c.7677C>A (p.Pro2559=) c.7668C>A (p.Pro2556=) c.7659C>A (p.Pro2553=) c.7545C>A (p.Pro2515=) c.7380C>A (p.Pro2460=) c.5529C>A (p.Pro1843=) c.3219C>A (p.Pro1073=) n.7918C>A | ClinVar dbSNP |
18 | g.23915294C>G | CA503339193 | LAMA3 | c.2823C>G (p.Pro941=) c.7650C>G (p.Pro2550=) c.4245C>G (p.Pro1415=) c.7482C>G (p.Pro2494=) c.2428C>G c.2655C>G (p.Pro885=) n.2228C>G c.7677C>G (p.Pro2559=) c.7668C>G (p.Pro2556=) c.7659C>G (p.Pro2553=) c.7545C>G (p.Pro2515=) c.7380C>G (p.Pro2460=) c.5529C>G (p.Pro1843=) c.3219C>G (p.Pro1073=) n.7918C>G | |
18 | g.23915294C>T | CA503339192 | LAMA3 | c.2823C>T (p.Pro941=) c.7650C>T (p.Pro2550=) c.4245C>T (p.Pro1415=) c.7482C>T (p.Pro2494=) c.2428C>T c.2655C>T (p.Pro885=) n.2228C>T c.7677C>T (p.Pro2559=) c.7668C>T (p.Pro2556=) c.7659C>T (p.Pro2553=) c.7545C>T (p.Pro2515=) c.7380C>T (p.Pro2460=) c.5529C>T (p.Pro1843=) c.3219C>T (p.Pro1073=) n.7918C>T | |
18 | g.23915295A= | CA2290328911 | LAMA3 | c.2824A= (p.Ser942=) c.7651A= (p.Ser2551=) c.4246A= (p.Ser1416=) c.7483A= (p.Ser2495=) c.2429A= c.2656A= (p.Ser886=) n.2229A= c.7678A= (p.Ser2560=) c.7669A= (p.Ser2557=) c.7660A= (p.Ser2554=) c.7546A= (p.Ser2516=) c.7381A= (p.Ser2461=) c.5530A= (p.Ser1844=) c.3220A= (p.Ser1074=) n.7919A= | |
18 | g.23915295A>C | CA402058068 | LAMA3 | c.2824A>C (p.Ser942Arg) c.7651A>C (p.Ser2551Arg) c.4246A>C (p.Ser1416Arg) c.7483A>C (p.Ser2495Arg) c.2429A>C c.2656A>C (p.Ser886Arg) n.2229A>C c.7678A>C (p.Ser2560Arg) c.7669A>C (p.Ser2557Arg) c.7660A>C (p.Ser2554Arg) c.7546A>C (p.Ser2516Arg) c.7381A>C (p.Ser2461Arg) c.5530A>C (p.Ser1844Arg) c.3220A>C (p.Ser1074Arg) n.7919A>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23915295A>G | CA402058071 | LAMA3 | c.2824A>G (p.Ser942Gly) c.7651A>G (p.Ser2551Gly) c.4246A>G (p.Ser1416Gly) c.7483A>G (p.Ser2495Gly) c.2429A>G c.2656A>G (p.Ser886Gly) n.2229A>G c.7678A>G (p.Ser2560Gly) c.7669A>G (p.Ser2557Gly) c.7660A>G (p.Ser2554Gly) c.7546A>G (p.Ser2516Gly) c.7381A>G (p.Ser2461Gly) c.5530A>G (p.Ser1844Gly) c.3220A>G (p.Ser1074Gly) n.7919A>G | |
18 | g.23915295A>T | CA402058074 | LAMA3 | c.2824A>T (p.Ser942Cys) c.7651A>T (p.Ser2551Cys) c.4246A>T (p.Ser1416Cys) c.7483A>T (p.Ser2495Cys) c.2429A>T c.2656A>T (p.Ser886Cys) n.2229A>T c.7678A>T (p.Ser2560Cys) c.7669A>T (p.Ser2557Cys) c.7660A>T (p.Ser2554Cys) c.7546A>T (p.Ser2516Cys) c.7381A>T (p.Ser2461Cys) c.5530A>T (p.Ser1844Cys) c.3220A>T (p.Ser1074Cys) n.7919A>T | |
18 | g.23915296G>A | CA402058077 | LAMA3 | c.2825G>A (p.Ser942Asn) c.7652G>A (p.Ser2551Asn) c.4247G>A (p.Ser1416Asn) c.7484G>A (p.Ser2495Asn) c.2430G>A c.2657G>A (p.Ser886Asn) n.2230G>A c.7679G>A (p.Ser2560Asn) c.7670G>A (p.Ser2557Asn) c.7661G>A (p.Ser2554Asn) c.7547G>A (p.Ser2516Asn) c.7382G>A (p.Ser2461Asn) c.5531G>A (p.Ser1844Asn) c.3221G>A (p.Ser1074Asn) n.7920G>A | |
18 | g.23915296G>C | CA402058083 | LAMA3 | c.2825G>C (p.Ser942Thr) c.7652G>C (p.Ser2551Thr) c.4247G>C (p.Ser1416Thr) c.7484G>C (p.Ser2495Thr) c.2430G>C c.2657G>C (p.Ser886Thr) n.2230G>C c.7679G>C (p.Ser2560Thr) c.7670G>C (p.Ser2557Thr) c.7661G>C (p.Ser2554Thr) c.7547G>C (p.Ser2516Thr) c.7382G>C (p.Ser2461Thr) c.5531G>C (p.Ser1844Thr) c.3221G>C (p.Ser1074Thr) n.7920G>C | |
18 | g.23915296G>T | CA402058085 | LAMA3 | c.2825G>T (p.Ser942Ile) c.7652G>T (p.Ser2551Ile) c.4247G>T (p.Ser1416Ile) c.7484G>T (p.Ser2495Ile) c.2430G>T c.2657G>T (p.Ser886Ile) n.2230G>T c.7679G>T (p.Ser2560Ile) c.7670G>T (p.Ser2557Ile) c.7661G>T (p.Ser2554Ile) c.7547G>T (p.Ser2516Ile) c.7382G>T (p.Ser2461Ile) c.5531G>T (p.Ser1844Ile) c.3221G>T (p.Ser1074Ile) n.7920G>T | |
18 | g.23915297T>A | CA402058092 | LAMA3 | c.2826T>A (p.Ser942Arg) c.7653T>A (p.Ser2551Arg) c.4248T>A (p.Ser1416Arg) c.7485T>A (p.Ser2495Arg) c.2431T>A c.2658T>A (p.Ser886Arg) n.2231T>A c.7680T>A (p.Ser2560Arg) c.7671T>A (p.Ser2557Arg) c.7662T>A (p.Ser2554Arg) c.7548T>A (p.Ser2516Arg) c.7383T>A (p.Ser2461Arg) c.5532T>A (p.Ser1844Arg) c.3222T>A (p.Ser1074Arg) n.7921T>A | |
18 | g.23915297T>C | CA503339203 | LAMA3 | c.2826T>C (p.Ser942=) c.7653T>C (p.Ser2551=) c.4248T>C (p.Ser1416=) c.7485T>C (p.Ser2495=) c.2431T>C c.2658T>C (p.Ser886=) n.2231T>C c.7680T>C (p.Ser2560=) c.7671T>C (p.Ser2557=) c.7662T>C (p.Ser2554=) c.7548T>C (p.Ser2516=) c.7383T>C (p.Ser2461=) c.5532T>C (p.Ser1844=) c.3222T>C (p.Ser1074=) n.7921T>C | |
18 | g.23915297T>G | CA402058093 | LAMA3 | c.2826T>G (p.Ser942Arg) c.7653T>G (p.Ser2551Arg) c.4248T>G (p.Ser1416Arg) c.7485T>G (p.Ser2495Arg) c.2431T>G c.2658T>G (p.Ser886Arg) n.2231T>G c.7680T>G (p.Ser2560Arg) c.7671T>G (p.Ser2557Arg) c.7662T>G (p.Ser2554Arg) c.7548T>G (p.Ser2516Arg) c.7383T>G (p.Ser2461Arg) c.5532T>G (p.Ser1844Arg) c.3222T>G (p.Ser1074Arg) n.7921T>G | |
18 | g.23915298C>A | CA503339207 | LAMA3 | c.2827C>A (p.Arg943=) c.7654C>A (p.Arg2552=) c.4249C>A (p.Arg1417=) c.7486C>A (p.Arg2496=) c.2432C>A c.2659C>A (p.Arg887=) n.2232C>A c.7681C>A (p.Arg2561=) c.7672C>A (p.Arg2558=) c.7663C>A (p.Arg2555=) c.7549C>A (p.Arg2517=) c.7384C>A (p.Arg2462=) c.5533C>A (p.Arg1845=) c.3223C>A (p.Arg1075=) n.7922C>A | gnomAD v4 |
18 | g.23915298C= | CA2290328913 | LAMA3 | c.2827C= (p.Arg943=) c.7654C= (p.Arg2552=) c.4249C= (p.Arg1417=) c.7486C= (p.Arg2496=) c.2432C= c.2659C= (p.Arg887=) n.2232C= c.7681C= (p.Arg2561=) c.7672C= (p.Arg2558=) c.7663C= (p.Arg2555=) c.7549C= (p.Arg2517=) c.7384C= (p.Arg2462=) c.5533C= (p.Arg1845=) c.3223C= (p.Arg1075=) n.7922C= | |
18 | g.23915298C>G | CA402058097 | LAMA3 | c.2827C>G (p.Arg943Gly) c.7654C>G (p.Arg2552Gly) c.4249C>G (p.Arg1417Gly) c.7486C>G (p.Arg2496Gly) c.2432C>G c.2659C>G (p.Arg887Gly) n.2232C>G c.7681C>G (p.Arg2561Gly) c.7672C>G (p.Arg2558Gly) c.7663C>G (p.Arg2555Gly) c.7549C>G (p.Arg2517Gly) c.7384C>G (p.Arg2462Gly) c.5533C>G (p.Arg1845Gly) c.3223C>G (p.Arg1075Gly) n.7922C>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23915298C>T | CA402058100 | LAMA3 | c.2827C>T (p.Arg943Ter) c.7654C>T (p.Arg2552Ter) c.4249C>T (p.Arg1417Ter) c.7486C>T (p.Arg2496Ter) c.2432C>T c.2659C>T (p.Arg887Ter) n.2232C>T c.7681C>T (p.Arg2561Ter) c.7672C>T (p.Arg2558Ter) c.7663C>T (p.Arg2555Ter) c.7549C>T (p.Arg2517Ter) c.7384C>T (p.Arg2462Ter) c.5533C>T (p.Arg1845Ter) c.3223C>T (p.Arg1075Ter) n.7922C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23915299G>A | CA8916717 | LAMA3 | c.2828G>A (p.Arg943Gln) c.7655G>A (p.Arg2552Gln) c.4250G>A (p.Arg1417Gln) c.7487G>A (p.Arg2496Gln) c.2433G>A c.2660G>A (p.Arg887Gln) n.2233G>A c.7682G>A (p.Arg2561Gln) c.7673G>A (p.Arg2558Gln) c.7664G>A (p.Arg2555Gln) c.7550G>A (p.Arg2517Gln) c.7385G>A (p.Arg2462Gln) c.5534G>A (p.Arg1845Gln) c.3224G>A (p.Arg1075Gln) n.7923G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23915299G>C | CA402058106 | LAMA3 | c.2828G>C (p.Arg943Pro) c.7655G>C (p.Arg2552Pro) c.4250G>C (p.Arg1417Pro) c.7487G>C (p.Arg2496Pro) c.2433G>C c.2660G>C (p.Arg887Pro) n.2233G>C c.7682G>C (p.Arg2561Pro) c.7673G>C (p.Arg2558Pro) c.7664G>C (p.Arg2555Pro) c.7550G>C (p.Arg2517Pro) c.7385G>C (p.Arg2462Pro) c.5534G>C (p.Arg1845Pro) c.3224G>C (p.Arg1075Pro) n.7923G>C | |
18 | g.23915299G= | CA2290328915 | LAMA3 | c.2828G= (p.Arg943=) c.7655G= (p.Arg2552=) c.4250G= (p.Arg1417=) c.7487G= (p.Arg2496=) c.2433G= c.2660G= (p.Arg887=) n.2233G= c.7682G= (p.Arg2561=) c.7673G= (p.Arg2558=) c.7664G= (p.Arg2555=) c.7550G= (p.Arg2517=) c.7385G= (p.Arg2462=) c.5534G= (p.Arg1845=) c.3224G= (p.Arg1075=) n.7923G= | |
18 | g.23915299G>T | CA402058109 | LAMA3 | c.2828G>T (p.Arg943Leu) c.7655G>T (p.Arg2552Leu) c.4250G>T (p.Arg1417Leu) c.7487G>T (p.Arg2496Leu) c.2433G>T c.2660G>T (p.Arg887Leu) n.2233G>T c.7682G>T (p.Arg2561Leu) c.7673G>T (p.Arg2558Leu) c.7664G>T (p.Arg2555Leu) c.7550G>T (p.Arg2517Leu) c.7385G>T (p.Arg2462Leu) c.5534G>T (p.Arg1845Leu) c.3224G>T (p.Arg1075Leu) n.7923G>T | |
18 | g.23915300A>C | CA503339214 | LAMA3 | c.2829A>C (p.Arg943=) c.7656A>C (p.Arg2552=) c.4251A>C (p.Arg1417=) c.7488A>C (p.Arg2496=) c.2434A>C c.2661A>C (p.Arg887=) n.2234A>C c.7683A>C (p.Arg2561=) c.7674A>C (p.Arg2558=) c.7665A>C (p.Arg2555=) c.7551A>C (p.Arg2517=) c.7386A>C (p.Arg2462=) c.5535A>C (p.Arg1845=) c.3225A>C (p.Arg1075=) n.7924A>C | |
18 | g.23915300A>G | CA503339215 | LAMA3 | c.2829A>G (p.Arg943=) c.7656A>G (p.Arg2552=) c.4251A>G (p.Arg1417=) c.7488A>G (p.Arg2496=) c.2434A>G c.2661A>G (p.Arg887=) n.2234A>G c.7683A>G (p.Arg2561=) c.7674A>G (p.Arg2558=) c.7665A>G (p.Arg2555=) c.7551A>G (p.Arg2517=) c.7386A>G (p.Arg2462=) c.5535A>G (p.Arg1845=) c.3225A>G (p.Arg1075=) n.7924A>G | ClinVar dbSNP |
18 | g.23915300A>T | CA503339218 | LAMA3 | c.2829A>T (p.Arg943=) c.7656A>T (p.Arg2552=) c.4251A>T (p.Arg1417=) c.7488A>T (p.Arg2496=) c.2434A>T c.2661A>T (p.Arg887=) n.2234A>T c.7683A>T (p.Arg2561=) c.7674A>T (p.Arg2558=) c.7665A>T (p.Arg2555=) c.7551A>T (p.Arg2517=) c.7386A>T (p.Arg2462=) c.5535A>T (p.Arg1845=) c.3225A>T (p.Arg1075=) n.7924A>T | |
18 | g.23915301C>A | CA402058111 | LAMA3 | c.2830C>A (p.Leu944Ile) c.7657C>A (p.Leu2553Ile) c.4252C>A (p.Leu1418Ile) c.7489C>A (p.Leu2497Ile) c.2435C>A c.2662C>A (p.Leu888Ile) n.2235C>A c.7684C>A (p.Leu2562Ile) c.7675C>A (p.Leu2559Ile) c.7666C>A (p.Leu2556Ile) c.7552C>A (p.Leu2518Ile) c.7387C>A (p.Leu2463Ile) c.5536C>A (p.Leu1846Ile) c.3226C>A (p.Leu1076Ile) n.7925C>A | |
18 | g.23915301C= | CA2290328918 | LAMA3 | c.2830C= (p.Leu944=) c.7657C= (p.Leu2553=) c.4252C= (p.Leu1418=) c.7489C= (p.Leu2497=) c.2435C= c.2662C= (p.Leu888=) n.2235C= c.7684C= (p.Leu2562=) c.7675C= (p.Leu2559=) c.7666C= (p.Leu2556=) c.7552C= (p.Leu2518=) c.7387C= (p.Leu2463=) c.5536C= (p.Leu1846=) c.3226C= (p.Leu1076=) n.7925C= | |
18 | g.23915301C>G | CA242133 | LAMA3 | c.2830C>G (p.Leu944Val) c.7657C>G (p.Leu2553Val) c.4252C>G (p.Leu1418Val) c.7489C>G (p.Leu2497Val) c.2435C>G c.2662C>G (p.Leu888Val) n.2235C>G c.7684C>G (p.Leu2562Val) c.7675C>G (p.Leu2559Val) c.7666C>G (p.Leu2556Val) c.7552C>G (p.Leu2518Val) c.7387C>G (p.Leu2463Val) c.5536C>G (p.Leu1846Val) c.3226C>G (p.Leu1076Val) n.7925C>G | ClinVar dbSNP |
18 | g.23915301C>T | CA503339223 | LAMA3 | c.2830C>T (p.Leu944=) c.7657C>T (p.Leu2553=) c.4252C>T (p.Leu1418=) c.7489C>T (p.Leu2497=) c.2435C>T c.2662C>T (p.Leu888=) n.2235C>T c.7684C>T (p.Leu2562=) c.7675C>T (p.Leu2559=) c.7666C>T (p.Leu2556=) c.7552C>T (p.Leu2518=) c.7387C>T (p.Leu2463=) c.5536C>T (p.Leu1846=) c.3226C>T (p.Leu1076=) n.7925C>T | |
18 | g.23915302T>A | CA402058115 | LAMA3 | c.2831T>A (p.Leu944Gln) c.7658T>A (p.Leu2553Gln) c.4253T>A (p.Leu1418Gln) c.7490T>A (p.Leu2497Gln) c.2436T>A c.2663T>A (p.Leu888Gln) n.2236T>A c.7685T>A (p.Leu2562Gln) c.7676T>A (p.Leu2559Gln) c.7667T>A (p.Leu2556Gln) c.7553T>A (p.Leu2518Gln) c.7388T>A (p.Leu2463Gln) c.5537T>A (p.Leu1846Gln) c.3227T>A (p.Leu1076Gln) n.7926T>A | |
18 | g.23915302T>C | CA8916718 | LAMA3 | c.2831T>C (p.Leu944Pro) c.7658T>C (p.Leu2553Pro) c.4253T>C (p.Leu1418Pro) c.7490T>C (p.Leu2497Pro) c.2436T>C c.2663T>C (p.Leu888Pro) n.2236T>C c.7685T>C (p.Leu2562Pro) c.7676T>C (p.Leu2559Pro) c.7667T>C (p.Leu2556Pro) c.7553T>C (p.Leu2518Pro) c.7388T>C (p.Leu2463Pro) c.5537T>C (p.Leu1846Pro) c.3227T>C (p.Leu1076Pro) n.7926T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23915302T>G | CA402058118 | LAMA3 | c.2831T>G (p.Leu944Arg) c.7658T>G (p.Leu2553Arg) c.4253T>G (p.Leu1418Arg) c.7490T>G (p.Leu2497Arg) c.2436T>G c.2663T>G (p.Leu888Arg) n.2236T>G c.7685T>G (p.Leu2562Arg) c.7676T>G (p.Leu2559Arg) c.7667T>G (p.Leu2556Arg) c.7553T>G (p.Leu2518Arg) c.7388T>G (p.Leu2463Arg) c.5537T>G (p.Leu1846Arg) c.3227T>G (p.Leu1076Arg) n.7926T>G | |
18 | g.23915302T= | CA2290328920 | LAMA3 | c.2831T= (p.Leu944=) c.7658T= (p.Leu2553=) c.4253T= (p.Leu1418=) c.7490T= (p.Leu2497=) c.2436T= c.2663T= (p.Leu888=) n.2236T= c.7685T= (p.Leu2562=) c.7676T= (p.Leu2559=) c.7667T= (p.Leu2556=) c.7553T= (p.Leu2518=) c.7388T= (p.Leu2463=) c.5537T= (p.Leu1846=) c.3227T= (p.Leu1076=) n.7926T= | |
18 | g.23915302dup | CA777728800 | LAMA3 | c.2831dup (p.Ser945LysfsTer10) c.7658dup (p.Ser2554LysfsTer10) c.4253dup (p.Ser1419LysfsTer10) c.7490dup (p.Ser2498LysfsTer10) c.2436dup c.2663dup (p.Ser889LysfsTer10) n.2236dup c.7685dup (p.Ser2563LysfsTer10) c.7676dup (p.Ser2560LysfsTer10) c.7667dup (p.Ser2557LysfsTer10) c.7553dup (p.Ser2519LysfsTer10) c.7388dup (p.Ser2464LysfsTer10) c.5537dup (p.Ser1847LysfsTer10) c.3227dup (p.Ser1077LysfsTer10) n.7926dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23915302_23915303del | CA2695227280 | LAMA3 | c.2831_2832del (p.Leu944GlnfsTer10) c.7658_7659del (p.Leu2553GlnfsTer10) c.4253_4254del (p.Leu1418GlnfsTer10) c.7490_7491del (p.Leu2497GlnfsTer10) c.2436_2437del c.2663_2664del (p.Leu888GlnfsTer10) n.2236_2237del c.7685_7686del (p.Leu2562GlnfsTer10) c.7676_7677del (p.Leu2559GlnfsTer10) c.7667_7668del (p.Leu2556GlnfsTer10) c.7553_7554del (p.Leu2518GlnfsTer10) c.7388_7389del (p.Leu2463GlnfsTer10) c.5537_5538del (p.Leu1846GlnfsTer10) c.3227_3228del (p.Leu1076GlnfsTer10) n.7926_7927del | ClinVar |
18 | g.23915303A>C | CA503339231 | LAMA3 | c.2832A>C (p.Leu944=) c.7659A>C (p.Leu2553=) c.4254A>C (p.Leu1418=) c.7491A>C (p.Leu2497=) c.2437A>C c.2664A>C (p.Leu888=) n.2237A>C c.7686A>C (p.Leu2562=) c.7677A>C (p.Leu2559=) c.7668A>C (p.Leu2556=) c.7554A>C (p.Leu2518=) c.7389A>C (p.Leu2463=) c.5538A>C (p.Leu1846=) c.3228A>C (p.Leu1076=) n.7927A>C | |
18 | g.23915303A>G | CA503339229 | LAMA3 | c.2832A>G (p.Leu944=) c.7659A>G (p.Leu2553=) c.4254A>G (p.Leu1418=) c.7491A>G (p.Leu2497=) c.2437A>G c.2664A>G (p.Leu888=) n.2237A>G c.7686A>G (p.Leu2562=) c.7677A>G (p.Leu2559=) c.7668A>G (p.Leu2556=) c.7554A>G (p.Leu2518=) c.7389A>G (p.Leu2463=) c.5538A>G (p.Leu1846=) c.3228A>G (p.Leu1076=) n.7927A>G | ClinVar |
18 | g.23915303A>T | CA503339228 | LAMA3 | c.2832A>T (p.Leu944=) c.7659A>T (p.Leu2553=) c.4254A>T (p.Leu1418=) c.7491A>T (p.Leu2497=) c.2437A>T c.2664A>T (p.Leu888=) n.2237A>T c.7686A>T (p.Leu2562=) c.7677A>T (p.Leu2559=) c.7668A>T (p.Leu2556=) c.7554A>T (p.Leu2518=) c.7389A>T (p.Leu2463=) c.5538A>T (p.Leu1846=) c.3228A>T (p.Leu1076=) n.7927A>T | ClinVar dbSNP |
18 | g.23915304A>C | CA402058122 | LAMA3 | c.2833A>C (p.Ser945Arg) c.7660A>C (p.Ser2554Arg) c.4255A>C (p.Ser1419Arg) c.7492A>C (p.Ser2498Arg) c.2438A>C c.2665A>C (p.Ser889Arg) n.2238A>C c.7687A>C (p.Ser2563Arg) c.7678A>C (p.Ser2560Arg) c.7669A>C (p.Ser2557Arg) c.7555A>C (p.Ser2519Arg) c.7390A>C (p.Ser2464Arg) c.5539A>C (p.Ser1847Arg) c.3229A>C (p.Ser1077Arg) n.7928A>C | |
18 | g.23915304A>G | CA402058123 | LAMA3 | c.2833A>G (p.Ser945Gly) c.7660A>G (p.Ser2554Gly) c.4255A>G (p.Ser1419Gly) c.7492A>G (p.Ser2498Gly) c.2438A>G c.2665A>G (p.Ser889Gly) n.2238A>G c.7687A>G (p.Ser2563Gly) c.7678A>G (p.Ser2560Gly) c.7669A>G (p.Ser2557Gly) c.7555A>G (p.Ser2519Gly) c.7390A>G (p.Ser2464Gly) c.5539A>G (p.Ser1847Gly) c.3229A>G (p.Ser1077Gly) n.7928A>G | |
18 | g.23915304A>T | CA402058126 | LAMA3 | c.2833A>T (p.Ser945Cys) c.7660A>T (p.Ser2554Cys) c.4255A>T (p.Ser1419Cys) c.7492A>T (p.Ser2498Cys) c.2438A>T c.2665A>T (p.Ser889Cys) n.2238A>T c.7687A>T (p.Ser2563Cys) c.7678A>T (p.Ser2560Cys) c.7669A>T (p.Ser2557Cys) c.7555A>T (p.Ser2519Cys) c.7390A>T (p.Ser2464Cys) c.5539A>T (p.Ser1847Cys) c.3229A>T (p.Ser1077Cys) n.7928A>T | |
18 | g.23915305G>A | CA402058132 | LAMA3 | c.2834G>A (p.Ser945Asn) c.7661G>A (p.Ser2554Asn) c.4256G>A (p.Ser1419Asn) c.7493G>A (p.Ser2498Asn) c.2439G>A c.2666G>A (p.Ser889Asn) n.2239G>A c.7688G>A (p.Ser2563Asn) c.7679G>A (p.Ser2560Asn) c.7670G>A (p.Ser2557Asn) c.7556G>A (p.Ser2519Asn) c.7391G>A (p.Ser2464Asn) c.5540G>A (p.Ser1847Asn) c.3230G>A (p.Ser1077Asn) n.7929G>A | dbSNP |
18 | g.23915305G>C | CA8916719 | LAMA3 | c.2834G>C (p.Ser945Thr) c.7661G>C (p.Ser2554Thr) c.4256G>C (p.Ser1419Thr) c.7493G>C (p.Ser2498Thr) c.2439G>C c.2666G>C (p.Ser889Thr) n.2239G>C c.7688G>C (p.Ser2563Thr) c.7679G>C (p.Ser2560Thr) c.7670G>C (p.Ser2557Thr) c.7556G>C (p.Ser2519Thr) c.7391G>C (p.Ser2464Thr) c.5540G>C (p.Ser1847Thr) c.3230G>C (p.Ser1077Thr) n.7929G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23915305G= | CA2290328923 | LAMA3 | c.2834G= (p.Ser945=) c.7661G= (p.Ser2554=) c.4256G= (p.Ser1419=) c.7493G= (p.Ser2498=) c.2439G= c.2666G= (p.Ser889=) n.2239G= c.7688G= (p.Ser2563=) c.7679G= (p.Ser2560=) c.7670G= (p.Ser2557=) c.7556G= (p.Ser2519=) c.7391G= (p.Ser2464=) c.5540G= (p.Ser1847=) c.3230G= (p.Ser1077=) n.7929G= | |
18 | g.23915305G>T | CA402058129 | LAMA3 | c.2834G>T (p.Ser945Ile) c.7661G>T (p.Ser2554Ile) c.4256G>T (p.Ser1419Ile) c.7493G>T (p.Ser2498Ile) c.2439G>T c.2666G>T (p.Ser889Ile) n.2239G>T c.7688G>T (p.Ser2563Ile) c.7679G>T (p.Ser2560Ile) c.7670G>T (p.Ser2557Ile) c.7556G>T (p.Ser2519Ile) c.7391G>T (p.Ser2464Ile) c.5540G>T (p.Ser1847Ile) c.3230G>T (p.Ser1077Ile) n.7929G>T | |
18 | g.23915306T>A | CA402058135 | LAMA3 | c.2835T>A (p.Ser945Arg) c.7662T>A (p.Ser2554Arg) c.4257T>A (p.Ser1419Arg) c.7494T>A (p.Ser2498Arg) c.2440T>A c.2667T>A (p.Ser889Arg) n.2240T>A c.7689T>A (p.Ser2563Arg) c.7680T>A (p.Ser2560Arg) c.7671T>A (p.Ser2557Arg) c.7557T>A (p.Ser2519Arg) c.7392T>A (p.Ser2464Arg) c.5541T>A (p.Ser1847Arg) c.3231T>A (p.Ser1077Arg) n.7930T>A | |
18 | g.23915306T>C | CA503339241 | LAMA3 | c.2835T>C (p.Ser945=) c.7662T>C (p.Ser2554=) c.4257T>C (p.Ser1419=) c.7494T>C (p.Ser2498=) c.2440T>C c.2667T>C (p.Ser889=) n.2240T>C c.7689T>C (p.Ser2563=) c.7680T>C (p.Ser2560=) c.7671T>C (p.Ser2557=) c.7557T>C (p.Ser2519=) c.7392T>C (p.Ser2464=) c.5541T>C (p.Ser1847=) c.3231T>C (p.Ser1077=) n.7930T>C | |
18 | g.23915306T>G | CA402058139 | LAMA3 | c.2835T>G (p.Ser945Arg) c.7662T>G (p.Ser2554Arg) c.4257T>G (p.Ser1419Arg) c.7494T>G (p.Ser2498Arg) c.2440T>G c.2667T>G (p.Ser889Arg) n.2240T>G c.7689T>G (p.Ser2563Arg) c.7680T>G (p.Ser2560Arg) c.7671T>G (p.Ser2557Arg) c.7557T>G (p.Ser2519Arg) c.7392T>G (p.Ser2464Arg) c.5541T>G (p.Ser1847Arg) c.3231T>G (p.Ser1077Arg) n.7930T>G | |
18 | g.23915307T>A | CA402058142 | LAMA3 | c.2836T>A (p.Phe946Ile) c.7663T>A (p.Phe2555Ile) c.4258T>A (p.Phe1420Ile) c.7495T>A (p.Phe2499Ile) c.2441T>A c.2668T>A (p.Phe890Ile) n.2241T>A c.7690T>A (p.Phe2564Ile) c.7681T>A (p.Phe2561Ile) c.7672T>A (p.Phe2558Ile) c.7558T>A (p.Phe2520Ile) c.7393T>A (p.Phe2465Ile) c.5542T>A (p.Phe1848Ile) c.3232T>A (p.Phe1078Ile) n.7931T>A | |
18 | g.23915307T>C | CA402058143 | LAMA3 | c.2836T>C (p.Phe946Leu) c.7663T>C (p.Phe2555Leu) c.4258T>C (p.Phe1420Leu) c.7495T>C (p.Phe2499Leu) c.2441T>C c.2668T>C (p.Phe890Leu) n.2241T>C c.7690T>C (p.Phe2564Leu) c.7681T>C (p.Phe2561Leu) c.7672T>C (p.Phe2558Leu) c.7558T>C (p.Phe2520Leu) c.7393T>C (p.Phe2465Leu) c.5542T>C (p.Phe1848Leu) c.3232T>C (p.Phe1078Leu) n.7931T>C | |
18 | g.23915307T>G | CA402058144 | LAMA3 | c.2836T>G (p.Phe946Val) c.7663T>G (p.Phe2555Val) c.4258T>G (p.Phe1420Val) c.7495T>G (p.Phe2499Val) c.2441T>G c.2668T>G (p.Phe890Val) n.2241T>G c.7690T>G (p.Phe2564Val) c.7681T>G (p.Phe2561Val) c.7672T>G (p.Phe2558Val) c.7558T>G (p.Phe2520Val) c.7393T>G (p.Phe2465Val) c.5542T>G (p.Phe1848Val) c.3232T>G (p.Phe1078Val) n.7931T>G | |
18 | g.23915308T>A | CA402058146 | LAMA3 | c.2837T>A (p.Phe946Tyr) c.7664T>A (p.Phe2555Tyr) c.4259T>A (p.Phe1420Tyr) c.7496T>A (p.Phe2499Tyr) c.2442T>A c.2669T>A (p.Phe890Tyr) n.2242T>A c.7691T>A (p.Phe2564Tyr) c.7682T>A (p.Phe2561Tyr) c.7673T>A (p.Phe2558Tyr) c.7559T>A (p.Phe2520Tyr) c.7394T>A (p.Phe2465Tyr) c.5543T>A (p.Phe1848Tyr) c.3233T>A (p.Phe1078Tyr) n.7932T>A | |
18 | g.23915308T>C | CA402058151 | LAMA3 | c.2837T>C (p.Phe946Ser) c.7664T>C (p.Phe2555Ser) c.4259T>C (p.Phe1420Ser) c.7496T>C (p.Phe2499Ser) c.2442T>C c.2669T>C (p.Phe890Ser) n.2242T>C c.7691T>C (p.Phe2564Ser) c.7682T>C (p.Phe2561Ser) c.7673T>C (p.Phe2558Ser) c.7559T>C (p.Phe2520Ser) c.7394T>C (p.Phe2465Ser) c.5543T>C (p.Phe1848Ser) c.3233T>C (p.Phe1078Ser) n.7932T>C | |
18 | g.23915308T>G | CA402058148 | LAMA3 | c.2837T>G (p.Phe946Cys) c.7664T>G (p.Phe2555Cys) c.4259T>G (p.Phe1420Cys) c.7496T>G (p.Phe2499Cys) c.2442T>G c.2669T>G (p.Phe890Cys) n.2242T>G c.7691T>G (p.Phe2564Cys) c.7682T>G (p.Phe2561Cys) c.7673T>G (p.Phe2558Cys) c.7559T>G (p.Phe2520Cys) c.7394T>G (p.Phe2465Cys) c.5543T>G (p.Phe1848Cys) c.3233T>G (p.Phe1078Cys) n.7932T>G | |
18 | g.23915309C>A | CA402058153 | LAMA3 | c.2838C>A (p.Phe946Leu) c.7665C>A (p.Phe2555Leu) c.4260C>A (p.Phe1420Leu) c.7497C>A (p.Phe2499Leu) c.2443C>A c.2670C>A (p.Phe890Leu) n.2243C>A c.7692C>A (p.Phe2564Leu) c.7683C>A (p.Phe2561Leu) c.7674C>A (p.Phe2558Leu) c.7560C>A (p.Phe2520Leu) c.7395C>A (p.Phe2465Leu) c.5544C>A (p.Phe1848Leu) c.3234C>A (p.Phe1078Leu) n.7933C>A | |
18 | g.23915309C>G | CA402058155 | LAMA3 | c.2838C>G (p.Phe946Leu) c.7665C>G (p.Phe2555Leu) c.4260C>G (p.Phe1420Leu) c.7497C>G (p.Phe2499Leu) c.2443C>G c.2670C>G (p.Phe890Leu) n.2243C>G c.7692C>G (p.Phe2564Leu) c.7683C>G (p.Phe2561Leu) c.7674C>G (p.Phe2558Leu) c.7560C>G (p.Phe2520Leu) c.7395C>G (p.Phe2465Leu) c.5544C>G (p.Phe1848Leu) c.3234C>G (p.Phe1078Leu) n.7933C>G | |
18 | g.23915309C>T | CA503339251 | LAMA3 | c.2838C>T (p.Phe946=) c.7665C>T (p.Phe2555=) c.4260C>T (p.Phe1420=) c.7497C>T (p.Phe2499=) c.2443C>T c.2670C>T (p.Phe890=) n.2243C>T c.7692C>T (p.Phe2564=) c.7683C>T (p.Phe2561=) c.7674C>T (p.Phe2558=) c.7560C>T (p.Phe2520=) c.7395C>T (p.Phe2465=) c.5544C>T (p.Phe1848=) c.3234C>T (p.Phe1078=) n.7933C>T | COSMIC COSMIC |
18 | g.23915310C>A | CA402058158 | LAMA3 | c.2839C>A (p.Pro947Thr) c.7666C>A (p.Pro2556Thr) c.4261C>A (p.Pro1421Thr) c.7498C>A (p.Pro2500Thr) c.2444C>A c.2671C>A (p.Pro891Thr) n.2244C>A c.7693C>A (p.Pro2565Thr) c.7684C>A (p.Pro2562Thr) c.7675C>A (p.Pro2559Thr) c.7561C>A (p.Pro2521Thr) c.7396C>A (p.Pro2466Thr) c.5545C>A (p.Pro1849Thr) c.3235C>A (p.Pro1079Thr) n.7934C>A | |
18 | g.23915310C= | CA2290328925 | LAMA3 | c.2839C= (p.Pro947=) c.7666C= (p.Pro2556=) c.4261C= (p.Pro1421=) c.7498C= (p.Pro2500=) c.2444C= c.2671C= (p.Pro891=) n.2244C= c.7693C= (p.Pro2565=) c.7684C= (p.Pro2562=) c.7675C= (p.Pro2559=) c.7561C= (p.Pro2521=) c.7396C= (p.Pro2466=) c.5545C= (p.Pro1849=) c.3235C= (p.Pro1079=) n.7934C= | |
18 | g.23915310C>G | CA402058160 | LAMA3 | c.2839C>G (p.Pro947Ala) c.7666C>G (p.Pro2556Ala) c.4261C>G (p.Pro1421Ala) c.7498C>G (p.Pro2500Ala) c.2444C>G c.2671C>G (p.Pro891Ala) n.2244C>G c.7693C>G (p.Pro2565Ala) c.7684C>G (p.Pro2562Ala) c.7675C>G (p.Pro2559Ala) c.7561C>G (p.Pro2521Ala) c.7396C>G (p.Pro2466Ala) c.5545C>G (p.Pro1849Ala) c.3235C>G (p.Pro1079Ala) n.7934C>G | dbSNP gnomAD v4 |
18 | g.23915310C>T | CA402058161 | LAMA3 | c.2839C>T (p.Pro947Ser) c.7666C>T (p.Pro2556Ser) c.4261C>T (p.Pro1421Ser) c.7498C>T (p.Pro2500Ser) c.2444C>T c.2671C>T (p.Pro891Ser) n.2244C>T c.7693C>T (p.Pro2565Ser) c.7684C>T (p.Pro2562Ser) c.7675C>T (p.Pro2559Ser) c.7561C>T (p.Pro2521Ser) c.7396C>T (p.Pro2466Ser) c.5545C>T (p.Pro1849Ser) c.3235C>T (p.Pro1079Ser) n.7934C>T | |
18 | g.23915311C>A | CA402058162 | LAMA3 | c.2840C>A (p.Pro947His) c.7667C>A (p.Pro2556His) c.4262C>A (p.Pro1421His) c.7499C>A (p.Pro2500His) c.2445C>A c.2672C>A (p.Pro891His) n.2245C>A c.7694C>A (p.Pro2565His) c.7685C>A (p.Pro2562His) c.7676C>A (p.Pro2559His) c.7562C>A (p.Pro2521His) c.7397C>A (p.Pro2466His) c.5546C>A (p.Pro1849His) c.3236C>A (p.Pro1079His) n.7935C>A | gnomAD v4 |
18 | g.23915311C>G | CA402058163 | LAMA3 | c.2840C>G (p.Pro947Arg) c.7667C>G (p.Pro2556Arg) c.4262C>G (p.Pro1421Arg) c.7499C>G (p.Pro2500Arg) c.2445C>G c.2672C>G (p.Pro891Arg) n.2245C>G c.7694C>G (p.Pro2565Arg) c.7685C>G (p.Pro2562Arg) c.7676C>G (p.Pro2559Arg) c.7562C>G (p.Pro2521Arg) c.7397C>G (p.Pro2466Arg) c.5546C>G (p.Pro1849Arg) c.3236C>G (p.Pro1079Arg) n.7935C>G | |
18 | g.23915311C>T | CA402058165 | LAMA3 | c.2840C>T (p.Pro947Leu) c.7667C>T (p.Pro2556Leu) c.4262C>T (p.Pro1421Leu) c.7499C>T (p.Pro2500Leu) c.2445C>T c.2672C>T (p.Pro891Leu) n.2245C>T c.7694C>T (p.Pro2565Leu) c.7685C>T (p.Pro2562Leu) c.7676C>T (p.Pro2559Leu) c.7562C>T (p.Pro2521Leu) c.7397C>T (p.Pro2466Leu) c.5546C>T (p.Pro1849Leu) c.3236C>T (p.Pro1079Leu) n.7935C>T | |
18 | g.23915312T>A | CA503339261 | LAMA3 | c.2841T>A (p.Pro947=) c.7668T>A (p.Pro2556=) c.4263T>A (p.Pro1421=) c.7500T>A (p.Pro2500=) c.2446T>A c.2673T>A (p.Pro891=) n.2246T>A c.7695T>A (p.Pro2565=) c.7686T>A (p.Pro2562=) c.7677T>A (p.Pro2559=) c.7563T>A (p.Pro2521=) c.7398T>A (p.Pro2466=) c.5547T>A (p.Pro1849=) c.3237T>A (p.Pro1079=) n.7936T>A | |
18 | g.23915312T>C | CA503339262 | LAMA3 | c.2841T>C (p.Pro947=) c.7668T>C (p.Pro2556=) c.4263T>C (p.Pro1421=) c.7500T>C (p.Pro2500=) c.2446T>C c.2673T>C (p.Pro891=) n.2246T>C c.7695T>C (p.Pro2565=) c.7686T>C (p.Pro2562=) c.7677T>C (p.Pro2559=) c.7563T>C (p.Pro2521=) c.7398T>C (p.Pro2466=) c.5547T>C (p.Pro1849=) c.3237T>C (p.Pro1079=) n.7936T>C | ClinVar |
18 | g.23915312T>G | CA503339264 | LAMA3 | c.2841T>G (p.Pro947=) c.7668T>G (p.Pro2556=) c.4263T>G (p.Pro1421=) c.7500T>G (p.Pro2500=) c.2446T>G c.2673T>G (p.Pro891=) n.2246T>G c.7695T>G (p.Pro2565=) c.7686T>G (p.Pro2562=) c.7677T>G (p.Pro2559=) c.7563T>G (p.Pro2521=) c.7398T>G (p.Pro2466=) c.5547T>G (p.Pro1849=) c.3237T>G (p.Pro1079=) n.7936T>G | |
18 | g.23915313C>A | CA402058167 | LAMA3 | c.2842C>A (p.Pro948Thr) c.7669C>A (p.Pro2557Thr) c.4264C>A (p.Pro1422Thr) c.7501C>A (p.Pro2501Thr) c.2447C>A c.2674C>A (p.Pro892Thr) n.2247C>A c.7696C>A (p.Pro2566Thr) c.7687C>A (p.Pro2563Thr) c.7678C>A (p.Pro2560Thr) c.7564C>A (p.Pro2522Thr) c.7399C>A (p.Pro2467Thr) c.5548C>A (p.Pro1850Thr) c.3238C>A (p.Pro1080Thr) n.7937C>A | |
18 | g.23915313C= | CA2290328926 | LAMA3 | c.2842C= (p.Pro948=) c.7669C= (p.Pro2557=) c.4264C= (p.Pro1422=) c.7501C= (p.Pro2501=) c.2447C= c.2674C= (p.Pro892=) n.2247C= c.7696C= (p.Pro2566=) c.7687C= (p.Pro2563=) c.7678C= (p.Pro2560=) c.7564C= (p.Pro2522=) c.7399C= (p.Pro2467=) c.5548C= (p.Pro1850=) c.3238C= (p.Pro1080=) n.7937C= | |
18 | g.23915313C>G | CA402058169 | LAMA3 | c.2842C>G (p.Pro948Ala) c.7669C>G (p.Pro2557Ala) c.4264C>G (p.Pro1422Ala) c.7501C>G (p.Pro2501Ala) c.2447C>G c.2674C>G (p.Pro892Ala) n.2247C>G c.7696C>G (p.Pro2566Ala) c.7687C>G (p.Pro2563Ala) c.7678C>G (p.Pro2560Ala) c.7564C>G (p.Pro2522Ala) c.7399C>G (p.Pro2467Ala) c.5548C>G (p.Pro1850Ala) c.3238C>G (p.Pro1080Ala) n.7937C>G | dbSNP |
18 | g.23915313C>T | CA402058171 | LAMA3 | c.2842C>T (p.Pro948Ser) c.7669C>T (p.Pro2557Ser) c.4264C>T (p.Pro1422Ser) c.7501C>T (p.Pro2501Ser) c.2447C>T c.2674C>T (p.Pro892Ser) n.2247C>T c.7696C>T (p.Pro2566Ser) c.7687C>T (p.Pro2563Ser) c.7678C>T (p.Pro2560Ser) c.7564C>T (p.Pro2522Ser) c.7399C>T (p.Pro2467Ser) c.5548C>T (p.Pro1850Ser) c.3238C>T (p.Pro1080Ser) n.7937C>T | gnomAD v4 |
18 | g.23915314C>A | CA402058173 | LAMA3 | c.2843C>A (p.Pro948Gln) c.7670C>A (p.Pro2557Gln) c.4265C>A (p.Pro1422Gln) c.7502C>A (p.Pro2501Gln) c.2448C>A c.2675C>A (p.Pro892Gln) n.2248C>A c.7697C>A (p.Pro2566Gln) c.7688C>A (p.Pro2563Gln) c.7679C>A (p.Pro2560Gln) c.7565C>A (p.Pro2522Gln) c.7400C>A (p.Pro2467Gln) c.5549C>A (p.Pro1850Gln) c.3239C>A (p.Pro1080Gln) n.7938C>A | |
18 | g.23915314C= | CA2290328928 | LAMA3 | c.2843C= (p.Pro948=) c.7670C= (p.Pro2557=) c.4265C= (p.Pro1422=) c.7502C= (p.Pro2501=) c.2448C= c.2675C= (p.Pro892=) n.2248C= c.7697C= (p.Pro2566=) c.7688C= (p.Pro2563=) c.7679C= (p.Pro2560=) c.7565C= (p.Pro2522=) c.7400C= (p.Pro2467=) c.5549C= (p.Pro1850=) c.3239C= (p.Pro1080=) n.7938C= | |
18 | g.23915314C>G | CA402058178 | LAMA3 | c.2843C>G (p.Pro948Arg) c.7670C>G (p.Pro2557Arg) c.4265C>G (p.Pro1422Arg) c.7502C>G (p.Pro2501Arg) c.2448C>G c.2675C>G (p.Pro892Arg) n.2248C>G c.7697C>G (p.Pro2566Arg) c.7688C>G (p.Pro2563Arg) c.7679C>G (p.Pro2560Arg) c.7565C>G (p.Pro2522Arg) c.7400C>G (p.Pro2467Arg) c.5549C>G (p.Pro1850Arg) c.3239C>G (p.Pro1080Arg) n.7938C>G | |
18 | g.23915314C>T | CA402058175 | LAMA3 | c.2843C>T (p.Pro948Leu) c.7670C>T (p.Pro2557Leu) c.4265C>T (p.Pro1422Leu) c.7502C>T (p.Pro2501Leu) c.2448C>T c.2675C>T (p.Pro892Leu) n.2248C>T c.7697C>T (p.Pro2566Leu) c.7688C>T (p.Pro2563Leu) c.7679C>T (p.Pro2560Leu) c.7565C>T (p.Pro2522Leu) c.7400C>T (p.Pro2467Leu) c.5549C>T (p.Pro1850Leu) c.3239C>T (p.Pro1080Leu) n.7938C>T | dbSNP gnomAD v4 |
18 | g.23915315A= | CA2290328930 | LAMA3 | c.2844A= (p.Pro948=) c.7671A= (p.Pro2557=) c.4266A= (p.Pro1422=) c.7503A= (p.Pro2501=) c.2449A= c.2676A= (p.Pro892=) n.2249A= c.7698A= (p.Pro2566=) c.7689A= (p.Pro2563=) c.7680A= (p.Pro2560=) c.7566A= (p.Pro2522=) c.7401A= (p.Pro2467=) c.5550A= (p.Pro1850=) c.3240A= (p.Pro1080=) n.7939A= | |
18 | g.23915315A>C | CA8916720 | LAMA3 | c.2844A>C (p.Pro948=) c.7671A>C (p.Pro2557=) c.4266A>C (p.Pro1422=) c.7503A>C (p.Pro2501=) c.2449A>C c.2676A>C (p.Pro892=) n.2249A>C c.7698A>C (p.Pro2566=) c.7689A>C (p.Pro2563=) c.7680A>C (p.Pro2560=) c.7566A>C (p.Pro2522=) c.7401A>C (p.Pro2467=) c.5550A>C (p.Pro1850=) c.3240A>C (p.Pro1080=) n.7939A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23915315A>G | CA297109583 | LAMA3 | c.2844A>G (p.Pro948=) c.7671A>G (p.Pro2557=) c.4266A>G (p.Pro1422=) c.7503A>G (p.Pro2501=) c.2449A>G c.2676A>G (p.Pro892=) n.2249A>G c.7698A>G (p.Pro2566=) c.7689A>G (p.Pro2563=) c.7680A>G (p.Pro2560=) c.7566A>G (p.Pro2522=) c.7401A>G (p.Pro2467=) c.5550A>G (p.Pro1850=) c.3240A>G (p.Pro1080=) n.7939A>G | ClinVar dbSNP |
18 | g.23915315A>T | CA503339275 | LAMA3 | c.2844A>T (p.Pro948=) c.7671A>T (p.Pro2557=) c.4266A>T (p.Pro1422=) c.7503A>T (p.Pro2501=) c.2449A>T c.2676A>T (p.Pro892=) n.2249A>T c.7698A>T (p.Pro2566=) c.7689A>T (p.Pro2563=) c.7680A>T (p.Pro2560=) c.7566A>T (p.Pro2522=) c.7401A>T (p.Pro2467=) c.5550A>T (p.Pro1850=) c.3240A>T (p.Pro1080=) n.7939A>T | |
18 | g.23915316T>A | CA402058186 | LAMA3 | c.2845T>A (p.Tyr949Asn) c.7672T>A (p.Tyr2558Asn) c.4267T>A (p.Tyr1423Asn) c.7504T>A (p.Tyr2502Asn) c.2450T>A c.2677T>A (p.Tyr893Asn) n.2250T>A c.7699T>A (p.Tyr2567Asn) c.7690T>A (p.Tyr2564Asn) c.7681T>A (p.Tyr2561Asn) c.7567T>A (p.Tyr2523Asn) c.7402T>A (p.Tyr2468Asn) c.5551T>A (p.Tyr1851Asn) c.3241T>A (p.Tyr1081Asn) n.7940T>A | |
18 | g.23915316T>C | CA402058187 | LAMA3 | c.2845T>C (p.Tyr949His) c.7672T>C (p.Tyr2558His) c.4267T>C (p.Tyr1423His) c.7504T>C (p.Tyr2502His) c.2450T>C c.2677T>C (p.Tyr893His) n.2250T>C c.7699T>C (p.Tyr2567His) c.7690T>C (p.Tyr2564His) c.7681T>C (p.Tyr2561His) c.7567T>C (p.Tyr2523His) c.7402T>C (p.Tyr2468His) c.5551T>C (p.Tyr1851His) c.3241T>C (p.Tyr1081His) n.7940T>C | |
18 | g.23915316T>G | CA402058189 | LAMA3 | c.2845T>G (p.Tyr949Asp) c.7672T>G (p.Tyr2558Asp) c.4267T>G (p.Tyr1423Asp) c.7504T>G (p.Tyr2502Asp) c.2450T>G c.2677T>G (p.Tyr893Asp) n.2250T>G c.7699T>G (p.Tyr2567Asp) c.7690T>G (p.Tyr2564Asp) c.7681T>G (p.Tyr2561Asp) c.7567T>G (p.Tyr2523Asp) c.7402T>G (p.Tyr2468Asp) c.5551T>G (p.Tyr1851Asp) c.3241T>G (p.Tyr1081Asp) n.7940T>G | |
18 | g.23915317A>C | CA402058192 | LAMA3 | c.2846A>C (p.Tyr949Ser) c.7673A>C (p.Tyr2558Ser) c.4268A>C (p.Tyr1423Ser) c.7505A>C (p.Tyr2502Ser) c.2451A>C c.2678A>C (p.Tyr893Ser) n.2251A>C c.7700A>C (p.Tyr2567Ser) c.7691A>C (p.Tyr2564Ser) c.7682A>C (p.Tyr2561Ser) c.7568A>C (p.Tyr2523Ser) c.7403A>C (p.Tyr2468Ser) c.5552A>C (p.Tyr1851Ser) c.3242A>C (p.Tyr1081Ser) n.7941A>C | |
18 | g.23915317A>G | CA402058194 | LAMA3 | c.2846A>G (p.Tyr949Cys) c.7673A>G (p.Tyr2558Cys) c.4268A>G (p.Tyr1423Cys) c.7505A>G (p.Tyr2502Cys) c.2451A>G c.2678A>G (p.Tyr893Cys) n.2251A>G c.7700A>G (p.Tyr2567Cys) c.7691A>G (p.Tyr2564Cys) c.7682A>G (p.Tyr2561Cys) c.7568A>G (p.Tyr2523Cys) c.7403A>G (p.Tyr2468Cys) c.5552A>G (p.Tyr1851Cys) c.3242A>G (p.Tyr1081Cys) n.7941A>G | |
18 | g.23915317A>T | CA402058196 | LAMA3 | c.2846A>T (p.Tyr949Phe) c.7673A>T (p.Tyr2558Phe) c.4268A>T (p.Tyr1423Phe) c.7505A>T (p.Tyr2502Phe) c.2451A>T c.2678A>T (p.Tyr893Phe) n.2251A>T c.7700A>T (p.Tyr2567Phe) c.7691A>T (p.Tyr2564Phe) c.7682A>T (p.Tyr2561Phe) c.7568A>T (p.Tyr2523Phe) c.7403A>T (p.Tyr2468Phe) c.5552A>T (p.Tyr1851Phe) c.3242A>T (p.Tyr1081Phe) n.7941A>T | |
18 | g.23915318C>A | CA402058198 | LAMA3 | c.2847C>A (p.Tyr949Ter) c.7674C>A (p.Tyr2558Ter) c.4269C>A (p.Tyr1423Ter) c.7506C>A (p.Tyr2502Ter) c.2452C>A c.2679C>A (p.Tyr893Ter) n.2252C>A c.7701C>A (p.Tyr2567Ter) c.7692C>A (p.Tyr2564Ter) c.7683C>A (p.Tyr2561Ter) c.7569C>A (p.Tyr2523Ter) c.7404C>A (p.Tyr2468Ter) c.5553C>A (p.Tyr1851Ter) c.3243C>A (p.Tyr1081Ter) n.7942C>A | |
18 | g.23915318C>G | CA402058200 | LAMA3 | c.2847C>G (p.Tyr949Ter) c.7674C>G (p.Tyr2558Ter) c.4269C>G (p.Tyr1423Ter) c.7506C>G (p.Tyr2502Ter) c.2452C>G c.2679C>G (p.Tyr893Ter) n.2252C>G c.7701C>G (p.Tyr2567Ter) c.7692C>G (p.Tyr2564Ter) c.7683C>G (p.Tyr2561Ter) c.7569C>G (p.Tyr2523Ter) c.7404C>G (p.Tyr2468Ter) c.5553C>G (p.Tyr1851Ter) c.3243C>G (p.Tyr1081Ter) n.7942C>G | |
18 | g.23915318C>T | CA503339283 | LAMA3 | c.2847C>T (p.Tyr949=) c.7674C>T (p.Tyr2558=) c.4269C>T (p.Tyr1423=) c.7506C>T (p.Tyr2502=) c.2452C>T c.2679C>T (p.Tyr893=) n.2252C>T c.7701C>T (p.Tyr2567=) c.7692C>T (p.Tyr2564=) c.7683C>T (p.Tyr2561=) c.7569C>T (p.Tyr2523=) c.7404C>T (p.Tyr2468=) c.5553C>T (p.Tyr1851=) c.3243C>T (p.Tyr1081=) n.7942C>T | COSMIC COSMIC |
18 | g.23915318_23915319delinsCA | CA2290328933 | LAMA3 | c.2847_2848delinsCA (p.Tyr949=) c.7674_7675delinsCA (p.Tyr2558=) c.4269_4270delinsCA (p.Tyr1423=) c.7506_7507delinsCA (p.Tyr2502=) c.2452_2453delinsCA c.2679_2680delinsCA (p.Tyr893=) n.2252_2253delinsCA c.7701_7702delinsCA (p.Tyr2567=) c.7692_7693delinsCA (p.Tyr2564=) c.7683_7684delinsCA (p.Tyr2561=) c.7569_7570delinsCA (p.Tyr2523=) c.7404_7405delinsCA (p.Tyr2468=) c.5553_5554delinsCA (p.Tyr1851=) c.3243_3244delinsCA (p.Tyr1081=) n.7942_7943delinsCA | |
18 | g.23915319A>C | CA402058202 | LAMA3 | c.2848A>C (p.Lys950Gln) c.7675A>C (p.Lys2559Gln) c.4270A>C (p.Lys1424Gln) c.7507A>C (p.Lys2503Gln) c.2453A>C c.2680A>C (p.Lys894Gln) n.2253A>C c.7702A>C (p.Lys2568Gln) c.7693A>C (p.Lys2565Gln) c.7684A>C (p.Lys2562Gln) c.7570A>C (p.Lys2524Gln) c.7405A>C (p.Lys2469Gln) c.5554A>C (p.Lys1852Gln) c.3244A>C (p.Lys1082Gln) n.7943A>C | |
18 | g.23915319A>G | CA402058204 | LAMA3 | c.2848A>G (p.Lys950Glu) c.7675A>G (p.Lys2559Glu) c.4270A>G (p.Lys1424Glu) c.7507A>G (p.Lys2503Glu) c.2453A>G c.2680A>G (p.Lys894Glu) n.2253A>G c.7702A>G (p.Lys2568Glu) c.7693A>G (p.Lys2565Glu) c.7684A>G (p.Lys2562Glu) c.7570A>G (p.Lys2524Glu) c.7405A>G (p.Lys2469Glu) c.5554A>G (p.Lys1852Glu) c.3244A>G (p.Lys1082Glu) n.7943A>G | ClinVar gnomAD v4 |
18 | g.23915319A>T | CA402058207 | LAMA3 | c.2848A>T (p.Lys950Ter) c.7675A>T (p.Lys2559Ter) c.4270A>T (p.Lys1424Ter) c.7507A>T (p.Lys2503Ter) c.2453A>T c.2680A>T (p.Lys894Ter) n.2253A>T c.7702A>T (p.Lys2568Ter) c.7693A>T (p.Lys2565Ter) c.7684A>T (p.Lys2562Ter) c.7570A>T (p.Lys2524Ter) c.7405A>T (p.Lys2469Ter) c.5554A>T (p.Lys1852Ter) c.3244A>T (p.Lys1082Ter) n.7943A>T | |
18 | g.23915321del | CA16041939 | LAMA3 | c.2850del (p.Gly951ValfsTer5) c.7677del (p.Gly2560ValfsTer5) c.4272del (p.Gly1425ValfsTer5) c.7509del (p.Gly2504ValfsTer5) c.2455del c.2682del (p.Gly895ValfsTer5) n.2255del c.7704del (p.Gly2569ValfsTer5) c.7695del (p.Gly2566ValfsTer5) c.7686del (p.Gly2563ValfsTer5) c.7572del (p.Gly2525ValfsTer5) c.7407del (p.Gly2470ValfsTer5) c.5556del (p.Gly1853ValfsTer5) c.3246del (p.Gly1083ValfsTer5) n.7945del | ClinVar dbSNP |
18 | g.23915320A= | CA2290328936 | LAMA3 | c.2849A= (p.Lys950=) c.7676A= (p.Lys2559=) c.4271A= (p.Lys1424=) c.7508A= (p.Lys2503=) c.2454A= c.2681A= (p.Lys894=) n.2254A= c.7703A= (p.Lys2568=) c.7694A= (p.Lys2565=) c.7685A= (p.Lys2562=) c.7571A= (p.Lys2524=) c.7406A= (p.Lys2469=) c.5555A= (p.Lys1852=) c.3245A= (p.Lys1082=) n.7944A= | |
18 | g.23915320A>C | CA402058213 | LAMA3 | c.2849A>C (p.Lys950Thr) c.7676A>C (p.Lys2559Thr) c.4271A>C (p.Lys1424Thr) c.7508A>C (p.Lys2503Thr) c.2454A>C c.2681A>C (p.Lys894Thr) n.2254A>C c.7703A>C (p.Lys2568Thr) c.7694A>C (p.Lys2565Thr) c.7685A>C (p.Lys2562Thr) c.7571A>C (p.Lys2524Thr) c.7406A>C (p.Lys2469Thr) c.5555A>C (p.Lys1852Thr) c.3245A>C (p.Lys1082Thr) n.7944A>C | |
18 | g.23915320A>G | CA8916721 | LAMA3 | c.2849A>G (p.Lys950Arg) c.7676A>G (p.Lys2559Arg) c.4271A>G (p.Lys1424Arg) c.7508A>G (p.Lys2503Arg) c.2454A>G c.2681A>G (p.Lys894Arg) n.2254A>G c.7703A>G (p.Lys2568Arg) c.7694A>G (p.Lys2565Arg) c.7685A>G (p.Lys2562Arg) c.7571A>G (p.Lys2524Arg) c.7406A>G (p.Lys2469Arg) c.5555A>G (p.Lys1852Arg) c.3245A>G (p.Lys1082Arg) n.7944A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23915320A>T | CA402058210 | LAMA3 | c.2849A>T (p.Lys950Ile) c.7676A>T (p.Lys2559Ile) c.4271A>T (p.Lys1424Ile) c.7508A>T (p.Lys2503Ile) c.2454A>T c.2681A>T (p.Lys894Ile) n.2254A>T c.7703A>T (p.Lys2568Ile) c.7694A>T (p.Lys2565Ile) c.7685A>T (p.Lys2562Ile) c.7571A>T (p.Lys2524Ile) c.7406A>T (p.Lys2469Ile) c.5555A>T (p.Lys1852Ile) c.3245A>T (p.Lys1082Ile) n.7944A>T | |
18 | g.23915321A>C | CA402058215 | LAMA3 | c.2850A>C (p.Lys950Asn) c.7677A>C (p.Lys2559Asn) c.4272A>C (p.Lys1424Asn) c.7509A>C (p.Lys2503Asn) c.2455A>C c.2682A>C (p.Lys894Asn) n.2255A>C c.7704A>C (p.Lys2568Asn) c.7695A>C (p.Lys2565Asn) c.7686A>C (p.Lys2562Asn) c.7572A>C (p.Lys2524Asn) c.7407A>C (p.Lys2469Asn) c.5556A>C (p.Lys1852Asn) c.3246A>C (p.Lys1082Asn) n.7945A>C | |
18 | g.23915321A>G | CA503339310 | LAMA3 | c.2850A>G (p.Lys950=) c.7677A>G (p.Lys2559=) c.4272A>G (p.Lys1424=) c.7509A>G (p.Lys2503=) c.2455A>G c.2682A>G (p.Lys894=) n.2255A>G c.7704A>G (p.Lys2568=) c.7695A>G (p.Lys2565=) c.7686A>G (p.Lys2562=) c.7572A>G (p.Lys2524=) c.7407A>G (p.Lys2469=) c.5556A>G (p.Lys1852=) c.3246A>G (p.Lys1082=) n.7945A>G | |
18 | g.23915321A>T | CA402058217 | LAMA3 | c.2850A>T (p.Lys950Asn) c.7677A>T (p.Lys2559Asn) c.4272A>T (p.Lys1424Asn) c.7509A>T (p.Lys2503Asn) c.2455A>T c.2682A>T (p.Lys894Asn) n.2255A>T c.7704A>T (p.Lys2568Asn) c.7695A>T (p.Lys2565Asn) c.7686A>T (p.Lys2562Asn) c.7572A>T (p.Lys2524Asn) c.7407A>T (p.Lys2469Asn) c.5556A>T (p.Lys1852Asn) c.3246A>T (p.Lys1082Asn) n.7945A>T | |
18 | g.23915322G>A | CA402058220 | LAMA3 | c.2851G>A (p.Gly951Ser) c.7678G>A (p.Gly2560Ser) c.4273G>A (p.Gly1425Ser) c.7510G>A (p.Gly2504Ser) c.2456G>A c.2683G>A (p.Gly895Ser) n.2256G>A c.7705G>A (p.Gly2569Ser) c.7696G>A (p.Gly2566Ser) c.7687G>A (p.Gly2563Ser) c.7573G>A (p.Gly2525Ser) c.7408G>A (p.Gly2470Ser) c.5557G>A (p.Gly1853Ser) c.3247G>A (p.Gly1083Ser) n.7946G>A | |
18 | g.23915322G>C | CA402058222 | LAMA3 | c.2851G>C (p.Gly951Arg) c.7678G>C (p.Gly2560Arg) c.4273G>C (p.Gly1425Arg) c.7510G>C (p.Gly2504Arg) c.2456G>C c.2683G>C (p.Gly895Arg) n.2256G>C c.7705G>C (p.Gly2569Arg) c.7696G>C (p.Gly2566Arg) c.7687G>C (p.Gly2563Arg) c.7573G>C (p.Gly2525Arg) c.7408G>C (p.Gly2470Arg) c.5557G>C (p.Gly1853Arg) c.3247G>C (p.Gly1083Arg) n.7946G>C | |
18 | g.23915322G>T | CA402058224 | LAMA3 | c.2851G>T (p.Gly951Cys) c.7678G>T (p.Gly2560Cys) c.4273G>T (p.Gly1425Cys) c.7510G>T (p.Gly2504Cys) c.2456G>T c.2683G>T (p.Gly895Cys) n.2256G>T c.7705G>T (p.Gly2569Cys) c.7696G>T (p.Gly2566Cys) c.7687G>T (p.Gly2563Cys) c.7573G>T (p.Gly2525Cys) c.7408G>T (p.Gly2470Cys) c.5557G>T (p.Gly1853Cys) c.3247G>T (p.Gly1083Cys) n.7946G>T | gnomAD v4 |
18 | g.23915323G>A | CA402058228 | LAMA3 | c.2852G>A (p.Gly951Asp) c.7679G>A (p.Gly2560Asp) c.4274G>A (p.Gly1425Asp) c.7511G>A (p.Gly2504Asp) c.2457G>A c.2684G>A (p.Gly895Asp) n.2257G>A c.7706G>A (p.Gly2569Asp) c.7697G>A (p.Gly2566Asp) c.7688G>A (p.Gly2563Asp) c.7574G>A (p.Gly2525Asp) c.7409G>A (p.Gly2470Asp) c.5558G>A (p.Gly1853Asp) c.3248G>A (p.Gly1083Asp) n.7947G>A | gnomAD v4 |
18 | g.23915323G>C | CA402058230 | LAMA3 | c.2852G>C (p.Gly951Ala) c.7679G>C (p.Gly2560Ala) c.4274G>C (p.Gly1425Ala) c.7511G>C (p.Gly2504Ala) c.2457G>C c.2684G>C (p.Gly895Ala) n.2257G>C c.7706G>C (p.Gly2569Ala) c.7697G>C (p.Gly2566Ala) c.7688G>C (p.Gly2563Ala) c.7574G>C (p.Gly2525Ala) c.7409G>C (p.Gly2470Ala) c.5558G>C (p.Gly1853Ala) c.3248G>C (p.Gly1083Ala) n.7947G>C | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23915323G= | CA2290328938 | LAMA3 | c.2852G= (p.Gly951=) c.7679G= (p.Gly2560=) c.4274G= (p.Gly1425=) c.7511G= (p.Gly2504=) c.2457G= c.2684G= (p.Gly895=) n.2257G= c.7706G= (p.Gly2569=) c.7697G= (p.Gly2566=) c.7688G= (p.Gly2563=) c.7574G= (p.Gly2525=) c.7409G= (p.Gly2470=) c.5558G= (p.Gly1853=) c.3248G= (p.Gly1083=) n.7947G= | |
18 | g.23915323G>T | CA402058231 | LAMA3 | c.2852G>T (p.Gly951Val) c.7679G>T (p.Gly2560Val) c.4274G>T (p.Gly1425Val) c.7511G>T (p.Gly2504Val) c.2457G>T c.2684G>T (p.Gly895Val) n.2257G>T c.7706G>T (p.Gly2569Val) c.7697G>T (p.Gly2566Val) c.7688G>T (p.Gly2563Val) c.7574G>T (p.Gly2525Val) c.7409G>T (p.Gly2470Val) c.5558G>T (p.Gly1853Val) c.3248G>T (p.Gly1083Val) n.7947G>T | |
18 | g.23915324T>A | CA503339321 | LAMA3 | c.2853T>A (p.Gly951=) c.7680T>A (p.Gly2560=) c.4275T>A (p.Gly1425=) c.7512T>A (p.Gly2504=) c.2458T>A c.2685T>A (p.Gly895=) n.2258T>A c.7707T>A (p.Gly2569=) c.7698T>A (p.Gly2566=) c.7689T>A (p.Gly2563=) c.7575T>A (p.Gly2525=) c.7410T>A (p.Gly2470=) c.5559T>A (p.Gly1853=) c.3249T>A (p.Gly1083=) n.7948T>A | |
18 | g.23915324T>C | CA503339323 | LAMA3 | c.2853T>C (p.Gly951=) c.7680T>C (p.Gly2560=) c.4275T>C (p.Gly1425=) c.7512T>C (p.Gly2504=) c.2458T>C c.2685T>C (p.Gly895=) n.2258T>C c.7707T>C (p.Gly2569=) c.7698T>C (p.Gly2566=) c.7689T>C (p.Gly2563=) c.7575T>C (p.Gly2525=) c.7410T>C (p.Gly2470=) c.5559T>C (p.Gly1853=) c.3249T>C (p.Gly1083=) n.7948T>C | |
18 | g.23915324T>G | CA503339325 | LAMA3 | c.2853T>G (p.Gly951=) c.7680T>G (p.Gly2560=) c.4275T>G (p.Gly1425=) c.7512T>G (p.Gly2504=) c.2458T>G c.2685T>G (p.Gly895=) n.2258T>G c.7707T>G (p.Gly2569=) c.7698T>G (p.Gly2566=) c.7689T>G (p.Gly2563=) c.7575T>G (p.Gly2525=) c.7410T>G (p.Gly2470=) c.5559T>G (p.Gly1853=) c.3249T>G (p.Gly1083=) n.7948T>G | |
18 | g.23915325T>A | CA402058233 | LAMA3 | c.2854T>A (p.Cys952Ser) c.7681T>A (p.Cys2561Ser) c.4276T>A (p.Cys1426Ser) c.7513T>A (p.Cys2505Ser) c.2459T>A c.2686T>A (p.Cys896Ser) n.2259T>A c.7708T>A (p.Cys2570Ser) c.7699T>A (p.Cys2567Ser) c.7690T>A (p.Cys2564Ser) c.7576T>A (p.Cys2526Ser) c.7411T>A (p.Cys2471Ser) c.5560T>A (p.Cys1854Ser) c.3250T>A (p.Cys1084Ser) n.7949T>A | |
18 | g.23915325T>C | CA402058235 | LAMA3 | c.2854T>C (p.Cys952Arg) c.7681T>C (p.Cys2561Arg) c.4276T>C (p.Cys1426Arg) c.7513T>C (p.Cys2505Arg) c.2459T>C c.2686T>C (p.Cys896Arg) n.2259T>C c.7708T>C (p.Cys2570Arg) c.7699T>C (p.Cys2567Arg) c.7690T>C (p.Cys2564Arg) c.7576T>C (p.Cys2526Arg) c.7411T>C (p.Cys2471Arg) c.5560T>C (p.Cys1854Arg) c.3250T>C (p.Cys1084Arg) n.7949T>C | |
18 | g.23915325T>G | CA402058237 | LAMA3 | c.2854T>G (p.Cys952Gly) c.7681T>G (p.Cys2561Gly) c.4276T>G (p.Cys1426Gly) c.7513T>G (p.Cys2505Gly) c.2459T>G c.2686T>G (p.Cys896Gly) n.2259T>G c.7708T>G (p.Cys2570Gly) c.7699T>G (p.Cys2567Gly) c.7690T>G (p.Cys2564Gly) c.7576T>G (p.Cys2526Gly) c.7411T>G (p.Cys2471Gly) c.5560T>G (p.Cys1854Gly) c.3250T>G (p.Cys1084Gly) n.7949T>G | |
18 | g.23915326G>A | CA402058245 | LAMA3 | c.2855G>A (p.Cys952Tyr) c.7682G>A (p.Cys2561Tyr) c.4277G>A (p.Cys1426Tyr) c.7514G>A (p.Cys2505Tyr) c.2460G>A c.2687G>A (p.Cys896Tyr) n.2260G>A c.7709G>A (p.Cys2570Tyr) c.7700G>A (p.Cys2567Tyr) c.7691G>A (p.Cys2564Tyr) c.7577G>A (p.Cys2526Tyr) c.7412G>A (p.Cys2471Tyr) c.5561G>A (p.Cys1854Tyr) c.3251G>A (p.Cys1084Tyr) n.7950G>A | dbSNP |
18 | g.23915326G>C | CA402058242 | LAMA3 | c.2855G>C (p.Cys952Ser) c.7682G>C (p.Cys2561Ser) c.4277G>C (p.Cys1426Ser) c.7514G>C (p.Cys2505Ser) c.2460G>C c.2687G>C (p.Cys896Ser) n.2260G>C c.7709G>C (p.Cys2570Ser) c.7700G>C (p.Cys2567Ser) c.7691G>C (p.Cys2564Ser) c.7577G>C (p.Cys2526Ser) c.7412G>C (p.Cys2471Ser) c.5561G>C (p.Cys1854Ser) c.3251G>C (p.Cys1084Ser) n.7950G>C | |
18 | g.23915326G= | CA2290328940 | LAMA3 | c.2855G= (p.Cys952=) c.7682G= (p.Cys2561=) c.4277G= (p.Cys1426=) c.7514G= (p.Cys2505=) c.2460G= c.2687G= (p.Cys896=) n.2260G= c.7709G= (p.Cys2570=) c.7700G= (p.Cys2567=) c.7691G= (p.Cys2564=) c.7577G= (p.Cys2526=) c.7412G= (p.Cys2471=) c.5561G= (p.Cys1854=) c.3251G= (p.Cys1084=) n.7950G= | |
18 | g.23915326G>T | CA402058240 | LAMA3 | c.2855G>T (p.Cys952Phe) c.7682G>T (p.Cys2561Phe) c.4277G>T (p.Cys1426Phe) c.7514G>T (p.Cys2505Phe) c.2460G>T c.2687G>T (p.Cys896Phe) n.2260G>T c.7709G>T (p.Cys2570Phe) c.7700G>T (p.Cys2567Phe) c.7691G>T (p.Cys2564Phe) c.7577G>T (p.Cys2526Phe) c.7412G>T (p.Cys2471Phe) c.5561G>T (p.Cys1854Phe) c.3251G>T (p.Cys1084Phe) n.7950G>T | |
18 | g.23915327T>A | CA402058247 | LAMA3 | c.2856T>A (p.Cys952Ter) c.7683T>A (p.Cys2561Ter) c.4278T>A (p.Cys1426Ter) c.7515T>A (p.Cys2505Ter) c.2461T>A c.2688T>A (p.Cys896Ter) n.2261T>A c.7710T>A (p.Cys2570Ter) c.7701T>A (p.Cys2567Ter) c.7692T>A (p.Cys2564Ter) c.7578T>A (p.Cys2526Ter) c.7413T>A (p.Cys2471Ter) c.5562T>A (p.Cys1854Ter) c.3252T>A (p.Cys1084Ter) n.7951T>A | |
18 | g.23915327T>C | CA503339341 | LAMA3 | c.2856T>C (p.Cys952=) c.7683T>C (p.Cys2561=) c.4278T>C (p.Cys1426=) c.7515T>C (p.Cys2505=) c.2461T>C c.2688T>C (p.Cys896=) n.2261T>C c.7710T>C (p.Cys2570=) c.7701T>C (p.Cys2567=) c.7692T>C (p.Cys2564=) c.7578T>C (p.Cys2526=) c.7413T>C (p.Cys2471=) c.5562T>C (p.Cys1854=) c.3252T>C (p.Cys1084=) n.7951T>C | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23915327T>G | CA402058249 | LAMA3 | c.2856T>G (p.Cys952Trp) c.7683T>G (p.Cys2561Trp) c.4278T>G (p.Cys1426Trp) c.7515T>G (p.Cys2505Trp) c.2461T>G c.2688T>G (p.Cys896Trp) n.2261T>G c.7710T>G (p.Cys2570Trp) c.7701T>G (p.Cys2567Trp) c.7692T>G (p.Cys2564Trp) c.7578T>G (p.Cys2526Trp) c.7413T>G (p.Cys2471Trp) c.5562T>G (p.Cys1854Trp) c.3252T>G (p.Cys1084Trp) n.7951T>G | |
18 | g.23915327T= | CA2290328941 | LAMA3 | c.2856T= (p.Cys952=) c.7683T= (p.Cys2561=) c.4278T= (p.Cys1426=) c.7515T= (p.Cys2505=) c.2461T= c.2688T= (p.Cys896=) n.2261T= c.7710T= (p.Cys2570=) c.7701T= (p.Cys2567=) c.7692T= (p.Cys2564=) c.7578T= (p.Cys2526=) c.7413T= (p.Cys2471=) c.5562T= (p.Cys1854=) c.3252T= (p.Cys1084=) n.7951T= | |
18 | g.23915328A= | CA2290328943 | LAMA3 | c.2857A= (p.Ile953=) c.7684A= (p.Ile2562=) c.4279A= (p.Ile1427=) c.7516A= (p.Ile2506=) c.2462A= c.2689A= (p.Ile897=) n.2262A= c.7711A= (p.Ile2571=) c.7702A= (p.Ile2568=) c.7693A= (p.Ile2565=) c.7579A= (p.Ile2527=) c.7414A= (p.Ile2472=) c.5563A= (p.Ile1855=) c.3253A= (p.Ile1085=) n.7952A= | |
18 | g.23915328A>C | CA402058253 | LAMA3 | c.2857A>C (p.Ile953Leu) c.7684A>C (p.Ile2562Leu) c.4279A>C (p.Ile1427Leu) c.7516A>C (p.Ile2506Leu) c.2462A>C c.2689A>C (p.Ile897Leu) n.2262A>C c.7711A>C (p.Ile2571Leu) c.7702A>C (p.Ile2568Leu) c.7693A>C (p.Ile2565Leu) c.7579A>C (p.Ile2527Leu) c.7414A>C (p.Ile2472Leu) c.5563A>C (p.Ile1855Leu) c.3253A>C (p.Ile1085Leu) n.7952A>C | |
18 | g.23915328A>G | CA402058255 | LAMA3 | c.2857A>G (p.Ile953Val) c.7684A>G (p.Ile2562Val) c.4279A>G (p.Ile1427Val) c.7516A>G (p.Ile2506Val) c.2462A>G c.2689A>G (p.Ile897Val) n.2262A>G c.7711A>G (p.Ile2571Val) c.7702A>G (p.Ile2568Val) c.7693A>G (p.Ile2565Val) c.7579A>G (p.Ile2527Val) c.7414A>G (p.Ile2472Val) c.5563A>G (p.Ile1855Val) c.3253A>G (p.Ile1085Val) n.7952A>G | dbSNP |
18 | g.23915328A>T | CA402058257 | LAMA3 | c.2857A>T (p.Ile953Phe) c.7684A>T (p.Ile2562Phe) c.4279A>T (p.Ile1427Phe) c.7516A>T (p.Ile2506Phe) c.2462A>T c.2689A>T (p.Ile897Phe) n.2262A>T c.7711A>T (p.Ile2571Phe) c.7702A>T (p.Ile2568Phe) c.7693A>T (p.Ile2565Phe) c.7579A>T (p.Ile2527Phe) c.7414A>T (p.Ile2472Phe) c.5563A>T (p.Ile1855Phe) c.3253A>T (p.Ile1085Phe) n.7952A>T | |
18 | g.23915329T>A | CA402058259 | LAMA3 | c.2858T>A (p.Ile953Asn) c.7685T>A (p.Ile2562Asn) c.4280T>A (p.Ile1427Asn) c.7517T>A (p.Ile2506Asn) c.2463T>A c.2690T>A (p.Ile897Asn) n.2263T>A c.7712T>A (p.Ile2571Asn) c.7703T>A (p.Ile2568Asn) c.7694T>A (p.Ile2565Asn) c.7580T>A (p.Ile2527Asn) c.7415T>A (p.Ile2472Asn) c.5564T>A (p.Ile1855Asn) c.3254T>A (p.Ile1085Asn) n.7953T>A | |
18 | g.23915329T>C | CA402058261 | LAMA3 | c.2858T>C (p.Ile953Thr) c.7685T>C (p.Ile2562Thr) c.4280T>C (p.Ile1427Thr) c.7517T>C (p.Ile2506Thr) c.2463T>C c.2690T>C (p.Ile897Thr) n.2263T>C c.7712T>C (p.Ile2571Thr) c.7703T>C (p.Ile2568Thr) c.7694T>C (p.Ile2565Thr) c.7580T>C (p.Ile2527Thr) c.7415T>C (p.Ile2472Thr) c.5564T>C (p.Ile1855Thr) c.3254T>C (p.Ile1085Thr) n.7953T>C | |
18 | g.23915329T>G | CA402058262 | LAMA3 | c.2858T>G (p.Ile953Ser) c.7685T>G (p.Ile2562Ser) c.4280T>G (p.Ile1427Ser) c.7517T>G (p.Ile2506Ser) c.2463T>G c.2690T>G (p.Ile897Ser) n.2263T>G c.7712T>G (p.Ile2571Ser) c.7703T>G (p.Ile2568Ser) c.7694T>G (p.Ile2565Ser) c.7580T>G (p.Ile2527Ser) c.7415T>G (p.Ile2472Ser) c.5564T>G (p.Ile1855Ser) c.3254T>G (p.Ile1085Ser) n.7953T>G | |
18 | g.23915330T>A | CA503339352 | LAMA3 | c.2859T>A (p.Ile953=) c.7686T>A (p.Ile2562=) c.4281T>A (p.Ile1427=) c.7518T>A (p.Ile2506=) c.2464T>A c.2691T>A (p.Ile897=) n.2264T>A c.7713T>A (p.Ile2571=) c.7704T>A (p.Ile2568=) c.7695T>A (p.Ile2565=) c.7581T>A (p.Ile2527=) c.7416T>A (p.Ile2472=) c.5565T>A (p.Ile1855=) c.3255T>A (p.Ile1085=) n.7954T>A | |
18 | g.23915330T>C | CA503339354 | LAMA3 | c.2859T>C (p.Ile953=) c.7686T>C (p.Ile2562=) c.4281T>C (p.Ile1427=) c.7518T>C (p.Ile2506=) c.2464T>C c.2691T>C (p.Ile897=) n.2264T>C c.7713T>C (p.Ile2571=) c.7704T>C (p.Ile2568=) c.7695T>C (p.Ile2565=) c.7581T>C (p.Ile2527=) c.7416T>C (p.Ile2472=) c.5565T>C (p.Ile1855=) c.3255T>C (p.Ile1085=) n.7954T>C | |
18 | g.23915330T>G | CA402058263 | LAMA3 | c.2859T>G (p.Ile953Met) c.7686T>G (p.Ile2562Met) c.4281T>G (p.Ile1427Met) c.7518T>G (p.Ile2506Met) c.2464T>G c.2691T>G (p.Ile897Met) n.2264T>G c.7713T>G (p.Ile2571Met) c.7704T>G (p.Ile2568Met) c.7695T>G (p.Ile2565Met) c.7581T>G (p.Ile2527Met) c.7416T>G (p.Ile2472Met) c.5565T>G (p.Ile1855Met) c.3255T>G (p.Ile1085Met) n.7954T>G | |
18 | g.23915331G>A | CA402058265 | LAMA3 | c.2860G>A (p.Glu954Lys) c.7687G>A (p.Glu2563Lys) c.4282G>A (p.Glu1428Lys) c.7519G>A (p.Glu2507Lys) c.2465G>A c.2692G>A (p.Glu898Lys) n.2265G>A c.7714G>A (p.Glu2572Lys) c.7705G>A (p.Glu2569Lys) c.7696G>A (p.Glu2566Lys) c.7582G>A (p.Glu2528Lys) c.7417G>A (p.Glu2473Lys) c.5566G>A (p.Glu1856Lys) c.3256G>A (p.Glu1086Lys) n.7955G>A | |
18 | g.23915331G>C | CA402058267 | LAMA3 | c.2860G>C (p.Glu954Gln) c.7687G>C (p.Glu2563Gln) c.4282G>C (p.Glu1428Gln) c.7519G>C (p.Glu2507Gln) c.2465G>C c.2692G>C (p.Glu898Gln) n.2265G>C c.7714G>C (p.Glu2572Gln) c.7705G>C (p.Glu2569Gln) c.7696G>C (p.Glu2566Gln) c.7582G>C (p.Glu2528Gln) c.7417G>C (p.Glu2473Gln) c.5566G>C (p.Glu1856Gln) c.3256G>C (p.Glu1086Gln) n.7955G>C | |
18 | g.23915331G>T | CA402058268 | LAMA3 | c.2860G>T (p.Glu954Ter) c.7687G>T (p.Glu2563Ter) c.4282G>T (p.Glu1428Ter) c.7519G>T (p.Glu2507Ter) c.2465G>T c.2692G>T (p.Glu898Ter) n.2265G>T c.7714G>T (p.Glu2572Ter) c.7705G>T (p.Glu2569Ter) c.7696G>T (p.Glu2566Ter) c.7582G>T (p.Glu2528Ter) c.7417G>T (p.Glu2473Ter) c.5566G>T (p.Glu1856Ter) c.3256G>T (p.Glu1086Ter) n.7955G>T | gnomAD v4 |
18 | g.23915332A>C | CA402058274 | LAMA3 | c.2861A>C (p.Glu954Ala) c.7688A>C (p.Glu2563Ala) c.4283A>C (p.Glu1428Ala) c.7520A>C (p.Glu2507Ala) c.2466A>C c.2693A>C (p.Glu898Ala) n.2266A>C c.7715A>C (p.Glu2572Ala) c.7706A>C (p.Glu2569Ala) c.7697A>C (p.Glu2566Ala) c.7583A>C (p.Glu2528Ala) c.7418A>C (p.Glu2473Ala) c.5567A>C (p.Glu1856Ala) c.3257A>C (p.Glu1086Ala) n.7956A>C | |
18 | g.23915332A>G | CA402058271 | LAMA3 | c.2861A>G (p.Glu954Gly) c.7688A>G (p.Glu2563Gly) c.4283A>G (p.Glu1428Gly) c.7520A>G (p.Glu2507Gly) c.2466A>G c.2693A>G (p.Glu898Gly) n.2266A>G c.7715A>G (p.Glu2572Gly) c.7706A>G (p.Glu2569Gly) c.7697A>G (p.Glu2566Gly) c.7583A>G (p.Glu2528Gly) c.7418A>G (p.Glu2473Gly) c.5567A>G (p.Glu1856Gly) c.3257A>G (p.Glu1086Gly) n.7956A>G | |
18 | g.23915332A>T | CA402058273 | LAMA3 | c.2861A>T (p.Glu954Val) c.7688A>T (p.Glu2563Val) c.4283A>T (p.Glu1428Val) c.7520A>T (p.Glu2507Val) c.2466A>T c.2693A>T (p.Glu898Val) n.2266A>T c.7715A>T (p.Glu2572Val) c.7706A>T (p.Glu2569Val) c.7697A>T (p.Glu2566Val) c.7583A>T (p.Glu2528Val) c.7418A>T (p.Glu2473Val) c.5567A>T (p.Glu1856Val) c.3257A>T (p.Glu1086Val) n.7956A>T | |
18 | g.23915332_23915333insTGACCTCAATGT | CA2734655424 | LAMA3 | c.2861_2862insTGACCTCAATGT (p.Glu954delinsAspAspLeuAsnVal) c.7688_7689insTGACCTCAATGT (p.Glu2563delinsAspAspLeuAsnVal) c.4283_4284insTGACCTCAATGT (p.Glu1428delinsAspAspLeuAsnVal) c.7520_7521insTGACCTCAATGT (p.Glu2507delinsAspAspLeuAsnVal) c.2466_2467insTGACCTCAATGT c.2693_2694insTGACCTCAATGT (p.Glu898delinsAspAspLeuAsnVal) n.2266_2267insTGACCTCAATGT c.7715_7716insTGACCTCAATGT (p.Glu2572delinsAspAspLeuAsnVal) c.7706_7707insTGACCTCAATGT (p.Glu2569delinsAspAspLeuAsnVal) c.7697_7698insTGACCTCAATGT (p.Glu2566delinsAspAspLeuAsnVal) c.7583_7584insTGACCTCAATGT (p.Glu2528delinsAspAspLeuAsnVal) c.7418_7419insTGACCTCAATGT (p.Glu2473delinsAspAspLeuAsnVal) c.5567_5568insTGACCTCAATGT (p.Glu1856delinsAspAspLeuAsnVal) c.3257_3258insTGACCTCAATGT (p.Glu1086delinsAspAspLeuAsnVal) n.7956_7957insTGACCTCAATGT | dbSNP |
18 | g.23915333A>C | CA402058277 | LAMA3 | c.2862A>C (p.Glu954Asp) c.7689A>C (p.Glu2563Asp) c.4284A>C (p.Glu1428Asp) c.7521A>C (p.Glu2507Asp) c.2467A>C c.2694A>C (p.Glu898Asp) n.2267A>C c.7716A>C (p.Glu2572Asp) c.7707A>C (p.Glu2569Asp) c.7698A>C (p.Glu2566Asp) c.7584A>C (p.Glu2528Asp) c.7419A>C (p.Glu2473Asp) c.5568A>C (p.Glu1856Asp) c.3258A>C (p.Glu1086Asp) n.7957A>C | |
18 | g.23915333A>G | CA503339366 | LAMA3 | c.2862A>G (p.Glu954=) c.7689A>G (p.Glu2563=) c.4284A>G (p.Glu1428=) c.7521A>G (p.Glu2507=) c.2467A>G c.2694A>G (p.Glu898=) n.2267A>G c.7716A>G (p.Glu2572=) c.7707A>G (p.Glu2569=) c.7698A>G (p.Glu2566=) c.7584A>G (p.Glu2528=) c.7419A>G (p.Glu2473=) c.5568A>G (p.Glu1856=) c.3258A>G (p.Glu1086=) n.7957A>G | |
18 | g.23915333A>T | CA402058280 | LAMA3 | c.2862A>T (p.Glu954Asp) c.7689A>T (p.Glu2563Asp) c.4284A>T (p.Glu1428Asp) c.7521A>T (p.Glu2507Asp) c.2467A>T c.2694A>T (p.Glu898Asp) n.2267A>T c.7716A>T (p.Glu2572Asp) c.7707A>T (p.Glu2569Asp) c.7698A>T (p.Glu2566Asp) c.7584A>T (p.Glu2528Asp) c.7419A>T (p.Glu2473Asp) c.5568A>T (p.Glu1856Asp) c.3258A>T (p.Glu1086Asp) n.7957A>T | |
18 | g.23915334T>A | CA402058281 | LAMA3 | c.2863T>A (p.Leu955Ile) c.7690T>A (p.Leu2564Ile) c.4285T>A (p.Leu1429Ile) c.7522T>A (p.Leu2508Ile) c.2468T>A c.2695T>A (p.Leu899Ile) n.2268T>A c.7717T>A (p.Leu2573Ile) c.7708T>A (p.Leu2570Ile) c.7699T>A (p.Leu2567Ile) c.7585T>A (p.Leu2529Ile) c.7420T>A (p.Leu2474Ile) c.5569T>A (p.Leu1857Ile) c.3259T>A (p.Leu1087Ile) n.7958T>A | |
18 | g.23915334T>C | CA503339371 | LAMA3 | c.2863T>C (p.Leu955=) c.7690T>C (p.Leu2564=) c.4285T>C (p.Leu1429=) c.7522T>C (p.Leu2508=) c.2468T>C c.2695T>C (p.Leu899=) n.2268T>C c.7717T>C (p.Leu2573=) c.7708T>C (p.Leu2570=) c.7699T>C (p.Leu2567=) c.7585T>C (p.Leu2529=) c.7420T>C (p.Leu2474=) c.5569T>C (p.Leu1857=) c.3259T>C (p.Leu1087=) n.7958T>C | |
18 | g.23915334T>G | CA402058282 | LAMA3 | c.2863T>G (p.Leu955Val) c.7690T>G (p.Leu2564Val) c.4285T>G (p.Leu1429Val) c.7522T>G (p.Leu2508Val) c.2468T>G c.2695T>G (p.Leu899Val) n.2268T>G c.7717T>G (p.Leu2573Val) c.7708T>G (p.Leu2570Val) c.7699T>G (p.Leu2567Val) c.7585T>G (p.Leu2529Val) c.7420T>G (p.Leu2474Val) c.5569T>G (p.Leu1857Val) c.3259T>G (p.Leu1087Val) n.7958T>G | |
18 | g.23915335T>A | CA402058285 | LAMA3 | c.2864T>A (p.Leu955Ter) c.7691T>A (p.Leu2564Ter) c.4286T>A (p.Leu1429Ter) c.7523T>A (p.Leu2508Ter) c.2469T>A c.2696T>A (p.Leu899Ter) n.2269T>A c.7718T>A (p.Leu2573Ter) c.7709T>A (p.Leu2570Ter) c.7700T>A (p.Leu2567Ter) c.7586T>A (p.Leu2529Ter) c.7421T>A (p.Leu2474Ter) c.5570T>A (p.Leu1857Ter) c.3260T>A (p.Leu1087Ter) n.7959T>A | |
18 | g.23915335T>C | CA402058286 | LAMA3 | c.2864T>C (p.Leu955Ser) c.7691T>C (p.Leu2564Ser) c.4286T>C (p.Leu1429Ser) c.7523T>C (p.Leu2508Ser) c.2469T>C c.2696T>C (p.Leu899Ser) n.2269T>C c.7718T>C (p.Leu2573Ser) c.7709T>C (p.Leu2570Ser) c.7700T>C (p.Leu2567Ser) c.7586T>C (p.Leu2529Ser) c.7421T>C (p.Leu2474Ser) c.5570T>C (p.Leu1857Ser) c.3260T>C (p.Leu1087Ser) n.7959T>C | |
18 | g.23915335T>G | CA402058288 | LAMA3 | c.2864T>G (p.Leu955Ter) c.7691T>G (p.Leu2564Ter) c.4286T>G (p.Leu1429Ter) c.7523T>G (p.Leu2508Ter) c.2469T>G c.2696T>G (p.Leu899Ter) n.2269T>G c.7718T>G (p.Leu2573Ter) c.7709T>G (p.Leu2570Ter) c.7700T>G (p.Leu2567Ter) c.7586T>G (p.Leu2529Ter) c.7421T>G (p.Leu2474Ter) c.5570T>G (p.Leu1857Ter) c.3260T>G (p.Leu1087Ter) n.7959T>G | |
18 | g.23915336A>C | CA402058290 | LAMA3 | c.2865A>C (p.Leu955Phe) c.7692A>C (p.Leu2564Phe) c.4287A>C (p.Leu1429Phe) c.7524A>C (p.Leu2508Phe) c.2470A>C c.2697A>C (p.Leu899Phe) n.2270A>C c.7719A>C (p.Leu2573Phe) c.7710A>C (p.Leu2570Phe) c.7701A>C (p.Leu2567Phe) c.7587A>C (p.Leu2529Phe) c.7422A>C (p.Leu2474Phe) c.5571A>C (p.Leu1857Phe) c.3261A>C (p.Leu1087Phe) n.7960A>C | |
18 | g.23915336A>G | CA503339377 | LAMA3 | c.2865A>G (p.Leu955=) c.7692A>G (p.Leu2564=) c.4287A>G (p.Leu1429=) c.7524A>G (p.Leu2508=) c.2470A>G c.2697A>G (p.Leu899=) n.2270A>G c.7719A>G (p.Leu2573=) c.7710A>G (p.Leu2570=) c.7701A>G (p.Leu2567=) c.7587A>G (p.Leu2529=) c.7422A>G (p.Leu2474=) c.5571A>G (p.Leu1857=) c.3261A>G (p.Leu1087=) n.7960A>G | ClinVar |
18 | g.23915336A>T | CA402058292 | LAMA3 | c.2865A>T (p.Leu955Phe) c.7692A>T (p.Leu2564Phe) c.4287A>T (p.Leu1429Phe) c.7524A>T (p.Leu2508Phe) c.2470A>T c.2697A>T (p.Leu899Phe) n.2270A>T c.7719A>T (p.Leu2573Phe) c.7710A>T (p.Leu2570Phe) c.7701A>T (p.Leu2567Phe) c.7587A>T (p.Leu2529Phe) c.7422A>T (p.Leu2474Phe) c.5571A>T (p.Leu1857Phe) c.3261A>T (p.Leu1087Phe) n.7960A>T | |
18 | g.23915337G>A | CA402058294 | LAMA3 | c.2866G>A (p.Asp956Asn) c.7693G>A (p.Asp2565Asn) c.4288G>A (p.Asp1430Asn) c.7525G>A (p.Asp2509Asn) c.2471G>A c.2698G>A (p.Asp900Asn) n.2271G>A c.7720G>A (p.Asp2574Asn) c.7711G>A (p.Asp2571Asn) c.7702G>A (p.Asp2568Asn) c.7588G>A (p.Asp2530Asn) c.7423G>A (p.Asp2475Asn) c.5572G>A (p.Asp1858Asn) c.3262G>A (p.Asp1088Asn) n.7961G>A | gnomAD v4 |
18 | g.23915337G>C | CA402058296 | LAMA3 | c.2866G>C (p.Asp956His) c.7693G>C (p.Asp2565His) c.4288G>C (p.Asp1430His) c.7525G>C (p.Asp2509His) c.2471G>C c.2698G>C (p.Asp900His) n.2271G>C c.7720G>C (p.Asp2574His) c.7711G>C (p.Asp2571His) c.7702G>C (p.Asp2568His) c.7588G>C (p.Asp2530His) c.7423G>C (p.Asp2475His) c.5572G>C (p.Asp1858His) c.3262G>C (p.Asp1088His) n.7961G>C | |
18 | g.23915337G>T | CA402058298 | LAMA3 | c.2866G>T (p.Asp956Tyr) c.7693G>T (p.Asp2565Tyr) c.4288G>T (p.Asp1430Tyr) c.7525G>T (p.Asp2509Tyr) c.2471G>T c.2698G>T (p.Asp900Tyr) n.2271G>T c.7720G>T (p.Asp2574Tyr) c.7711G>T (p.Asp2571Tyr) c.7702G>T (p.Asp2568Tyr) c.7588G>T (p.Asp2530Tyr) c.7423G>T (p.Asp2475Tyr) c.5572G>T (p.Asp1858Tyr) c.3262G>T (p.Asp1088Tyr) n.7961G>T | |
18 | g.23915338A>C | CA402058305 | LAMA3 | c.2867A>C (p.Asp956Ala) c.7694A>C (p.Asp2565Ala) c.4289A>C (p.Asp1430Ala) c.7526A>C (p.Asp2509Ala) c.2472A>C c.2699A>C (p.Asp900Ala) n.2272A>C c.7721A>C (p.Asp2574Ala) c.7712A>C (p.Asp2571Ala) c.7703A>C (p.Asp2568Ala) c.7589A>C (p.Asp2530Ala) c.7424A>C (p.Asp2475Ala) c.5573A>C (p.Asp1858Ala) c.3263A>C (p.Asp1088Ala) n.7962A>C | |
18 | g.23915338A>G | CA402058307 | LAMA3 | c.2867A>G (p.Asp956Gly) c.7694A>G (p.Asp2565Gly) c.4289A>G (p.Asp1430Gly) c.7526A>G (p.Asp2509Gly) c.2472A>G c.2699A>G (p.Asp900Gly) n.2272A>G c.7721A>G (p.Asp2574Gly) c.7712A>G (p.Asp2571Gly) c.7703A>G (p.Asp2568Gly) c.7589A>G (p.Asp2530Gly) c.7424A>G (p.Asp2475Gly) c.5573A>G (p.Asp1858Gly) c.3263A>G (p.Asp1088Gly) n.7962A>G | |
18 | g.23915338A>T | CA402058302 | LAMA3 | c.2867A>T (p.Asp956Val) c.7694A>T (p.Asp2565Val) c.4289A>T (p.Asp1430Val) c.7526A>T (p.Asp2509Val) c.2472A>T c.2699A>T (p.Asp900Val) n.2272A>T c.7721A>T (p.Asp2574Val) c.7712A>T (p.Asp2571Val) c.7703A>T (p.Asp2568Val) c.7589A>T (p.Asp2530Val) c.7424A>T (p.Asp2475Val) c.5573A>T (p.Asp1858Val) c.3263A>T (p.Asp1088Val) n.7962A>T | |
18 | g.23915339_23915346del | CA2695200388 | LAMA3 | c.2868_2875del (p.Asp956GlufsTer2) c.7695_7702del (p.Asp2565GlufsTer2) c.4290_4297del (p.Asp1430GlufsTer2) c.7527_7534del (p.Asp2509GlufsTer2) c.2473_2480del c.2700_2707del (p.Asp900GlufsTer2) n.2273_2280del c.7722_7729del (p.Asp2574GlufsTer2) c.7713_7720del (p.Asp2571GlufsTer2) c.7704_7711del (p.Asp2568GlufsTer2) c.7590_7597del (p.Asp2530GlufsTer2) c.7425_7432del (p.Asp2475GlufsTer2) c.5574_5581del (p.Asp1858GlufsTer2) c.3264_3271del (p.Asp1088GlufsTer2) n.7963_7970del | ClinVar |
18 | g.23915339T>A | CA402058312 | LAMA3 | c.2868T>A (p.Asp956Glu) c.7695T>A (p.Asp2565Glu) c.4290T>A (p.Asp1430Glu) c.7527T>A (p.Asp2509Glu) c.2473T>A c.2700T>A (p.Asp900Glu) n.2273T>A c.7722T>A (p.Asp2574Glu) c.7713T>A (p.Asp2571Glu) c.7704T>A (p.Asp2568Glu) c.7590T>A (p.Asp2530Glu) c.7425T>A (p.Asp2475Glu) c.5574T>A (p.Asp1858Glu) c.3264T>A (p.Asp1088Glu) n.7963T>A | |
18 | g.23915339T>C | CA503339388 | LAMA3 | c.2868T>C (p.Asp956=) c.7695T>C (p.Asp2565=) c.4290T>C (p.Asp1430=) c.7527T>C (p.Asp2509=) c.2473T>C c.2700T>C (p.Asp900=) n.2273T>C c.7722T>C (p.Asp2574=) c.7713T>C (p.Asp2571=) c.7704T>C (p.Asp2568=) c.7590T>C (p.Asp2530=) c.7425T>C (p.Asp2475=) c.5574T>C (p.Asp1858=) c.3264T>C (p.Asp1088=) n.7963T>C | ClinVar gnomAD v4 |
18 | g.23915339T>G | CA402058310 | LAMA3 | c.2868T>G (p.Asp956Glu) c.7695T>G (p.Asp2565Glu) c.4290T>G (p.Asp1430Glu) c.7527T>G (p.Asp2509Glu) c.2473T>G c.2700T>G (p.Asp900Glu) n.2273T>G c.7722T>G (p.Asp2574Glu) c.7713T>G (p.Asp2571Glu) c.7704T>G (p.Asp2568Glu) c.7590T>G (p.Asp2530Glu) c.7425T>G (p.Asp2475Glu) c.5574T>G (p.Asp1858Glu) c.3264T>G (p.Asp1088Glu) n.7963T>G | |
18 | g.23915340G>A | CA402058315 | LAMA3 | c.2869G>A (p.Asp957Asn) c.7696G>A (p.Asp2566Asn) c.4291G>A (p.Asp1431Asn) c.7528G>A (p.Asp2510Asn) c.2474G>A c.2701G>A (p.Asp901Asn) n.2274G>A c.7723G>A (p.Asp2575Asn) c.7714G>A (p.Asp2572Asn) c.7705G>A (p.Asp2569Asn) c.7591G>A (p.Asp2531Asn) c.7426G>A (p.Asp2476Asn) c.5575G>A (p.Asp1859Asn) c.3265G>A (p.Asp1089Asn) n.7964G>A | |
18 | g.23915340G>C | CA402058317 | LAMA3 | c.2869G>C (p.Asp957His) c.7696G>C (p.Asp2566His) c.4291G>C (p.Asp1431His) c.7528G>C (p.Asp2510His) c.2474G>C c.2701G>C (p.Asp901His) n.2274G>C c.7723G>C (p.Asp2575His) c.7714G>C (p.Asp2572His) c.7705G>C (p.Asp2569His) c.7591G>C (p.Asp2531His) c.7426G>C (p.Asp2476His) c.5575G>C (p.Asp1859His) c.3265G>C (p.Asp1089His) n.7964G>C | |
18 | g.23915340G>T | CA402058318 | LAMA3 | c.2869G>T (p.Asp957Tyr) c.7696G>T (p.Asp2566Tyr) c.4291G>T (p.Asp1431Tyr) c.7528G>T (p.Asp2510Tyr) c.2474G>T c.2701G>T (p.Asp901Tyr) n.2274G>T c.7723G>T (p.Asp2575Tyr) c.7714G>T (p.Asp2572Tyr) c.7705G>T (p.Asp2569Tyr) c.7591G>T (p.Asp2531Tyr) c.7426G>T (p.Asp2476Tyr) c.5575G>T (p.Asp1859Tyr) c.3265G>T (p.Asp1089Tyr) n.7964G>T | |
18 | g.23915341A= | CA2290328945 | LAMA3 | c.2870A= (p.Asp957=) c.7697A= (p.Asp2566=) c.4292A= (p.Asp1431=) c.7529A= (p.Asp2510=) c.2475A= c.2702A= (p.Asp901=) n.2275A= c.7724A= (p.Asp2575=) c.7715A= (p.Asp2572=) c.7706A= (p.Asp2569=) c.7592A= (p.Asp2531=) c.7427A= (p.Asp2476=) c.5576A= (p.Asp1859=) c.3266A= (p.Asp1089=) n.7965A= | |
18 | g.23915341A>C | CA402058321 | LAMA3 | c.2870A>C (p.Asp957Ala) c.7697A>C (p.Asp2566Ala) c.4292A>C (p.Asp1431Ala) c.7529A>C (p.Asp2510Ala) c.2475A>C c.2702A>C (p.Asp901Ala) n.2275A>C c.7724A>C (p.Asp2575Ala) c.7715A>C (p.Asp2572Ala) c.7706A>C (p.Asp2569Ala) c.7592A>C (p.Asp2531Ala) c.7427A>C (p.Asp2476Ala) c.5576A>C (p.Asp1859Ala) c.3266A>C (p.Asp1089Ala) n.7965A>C | |
18 | g.23915341A>G | CA402058323 | LAMA3 | c.2870A>G (p.Asp957Gly) c.7697A>G (p.Asp2566Gly) c.4292A>G (p.Asp1431Gly) c.7529A>G (p.Asp2510Gly) c.2475A>G c.2702A>G (p.Asp901Gly) n.2275A>G c.7724A>G (p.Asp2575Gly) c.7715A>G (p.Asp2572Gly) c.7706A>G (p.Asp2569Gly) c.7592A>G (p.Asp2531Gly) c.7427A>G (p.Asp2476Gly) c.5576A>G (p.Asp1859Gly) c.3266A>G (p.Asp1089Gly) n.7965A>G | dbSNP gnomAD v4 |
18 | g.23915341A>T | CA402058325 | LAMA3 | c.2870A>T (p.Asp957Val) c.7697A>T (p.Asp2566Val) c.4292A>T (p.Asp1431Val) c.7529A>T (p.Asp2510Val) c.2475A>T c.2702A>T (p.Asp901Val) n.2275A>T c.7724A>T (p.Asp2575Val) c.7715A>T (p.Asp2572Val) c.7706A>T (p.Asp2569Val) c.7592A>T (p.Asp2531Val) c.7427A>T (p.Asp2476Val) c.5576A>T (p.Asp1859Val) c.3266A>T (p.Asp1089Val) n.7965A>T | |
18 | g.23915342C>A | CA402058330 | LAMA3 | c.2871C>A (p.Asp957Glu) c.7698C>A (p.Asp2566Glu) c.4293C>A (p.Asp1431Glu) c.7530C>A (p.Asp2510Glu) c.2476C>A c.2703C>A (p.Asp901Glu) n.2276C>A c.7725C>A (p.Asp2575Glu) c.7716C>A (p.Asp2572Glu) c.7707C>A (p.Asp2569Glu) c.7593C>A (p.Asp2531Glu) c.7428C>A (p.Asp2476Glu) c.5577C>A (p.Asp1859Glu) c.3267C>A (p.Asp1089Glu) n.7966C>A | |
18 | g.23915342C>G | CA402058327 | LAMA3 | c.2871C>G (p.Asp957Glu) c.7698C>G (p.Asp2566Glu) c.4293C>G (p.Asp1431Glu) c.7530C>G (p.Asp2510Glu) c.2476C>G c.2703C>G (p.Asp901Glu) n.2276C>G c.7725C>G (p.Asp2575Glu) c.7716C>G (p.Asp2572Glu) c.7707C>G (p.Asp2569Glu) c.7593C>G (p.Asp2531Glu) c.7428C>G (p.Asp2476Glu) c.5577C>G (p.Asp1859Glu) c.3267C>G (p.Asp1089Glu) n.7966C>G | |
18 | g.23915342C>T | CA503339397 | LAMA3 | c.2871C>T (p.Asp957=) c.7698C>T (p.Asp2566=) c.4293C>T (p.Asp1431=) c.7530C>T (p.Asp2510=) c.2476C>T c.2703C>T (p.Asp901=) n.2276C>T c.7725C>T (p.Asp2575=) c.7716C>T (p.Asp2572=) c.7707C>T (p.Asp2569=) c.7593C>T (p.Asp2531=) c.7428C>T (p.Asp2476=) c.5577C>T (p.Asp1859=) c.3267C>T (p.Asp1089=) n.7966C>T | gnomAD v4 |
18 | g.23915343C>A | CA402058332 | LAMA3 | c.2872C>A (p.Leu958Ile) c.7699C>A (p.Leu2567Ile) c.4294C>A (p.Leu1432Ile) c.7531C>A (p.Leu2511Ile) c.2477C>A c.2704C>A (p.Leu902Ile) n.2277C>A c.7726C>A (p.Leu2576Ile) c.7717C>A (p.Leu2573Ile) c.7708C>A (p.Leu2570Ile) c.7594C>A (p.Leu2532Ile) c.7429C>A (p.Leu2477Ile) c.5578C>A (p.Leu1860Ile) c.3268C>A (p.Leu1090Ile) n.7967C>A | gnomAD v4 |
18 | g.23915343C>G | CA402058335 | LAMA3 | c.2872C>G (p.Leu958Val) c.7699C>G (p.Leu2567Val) c.4294C>G (p.Leu1432Val) c.7531C>G (p.Leu2511Val) c.2477C>G c.2704C>G (p.Leu902Val) n.2277C>G c.7726C>G (p.Leu2576Val) c.7717C>G (p.Leu2573Val) c.7708C>G (p.Leu2570Val) c.7594C>G (p.Leu2532Val) c.7429C>G (p.Leu2477Val) c.5578C>G (p.Leu1860Val) c.3268C>G (p.Leu1090Val) n.7967C>G | |
18 | g.23915343C>T | CA402058336 | LAMA3 | c.2872C>T (p.Leu958Phe) c.7699C>T (p.Leu2567Phe) c.4294C>T (p.Leu1432Phe) c.7531C>T (p.Leu2511Phe) c.2477C>T c.2704C>T (p.Leu902Phe) n.2277C>T c.7726C>T (p.Leu2576Phe) c.7717C>T (p.Leu2573Phe) c.7708C>T (p.Leu2570Phe) c.7594C>T (p.Leu2532Phe) c.7429C>T (p.Leu2477Phe) c.5578C>T (p.Leu1860Phe) c.3268C>T (p.Leu1090Phe) n.7967C>T | gnomAD v4 |
18 | g.23915344T>A | CA402058343 | LAMA3 | c.2873T>A (p.Leu958His) c.7700T>A (p.Leu2567His) c.4295T>A (p.Leu1432His) c.7532T>A (p.Leu2511His) c.2478T>A c.2705T>A (p.Leu902His) n.2278T>A c.7727T>A (p.Leu2576His) c.7718T>A (p.Leu2573His) c.7709T>A (p.Leu2570His) c.7595T>A (p.Leu2532His) c.7430T>A (p.Leu2477His) c.5579T>A (p.Leu1860His) c.3269T>A (p.Leu1090His) n.7968T>A | |
18 | g.23915344T>C | CA402058345 | LAMA3 | c.2873T>C (p.Leu958Pro) c.7700T>C (p.Leu2567Pro) c.4295T>C (p.Leu1432Pro) c.7532T>C (p.Leu2511Pro) c.2478T>C c.2705T>C (p.Leu902Pro) n.2278T>C c.7727T>C (p.Leu2576Pro) c.7718T>C (p.Leu2573Pro) c.7709T>C (p.Leu2570Pro) c.7595T>C (p.Leu2532Pro) c.7430T>C (p.Leu2477Pro) c.5579T>C (p.Leu1860Pro) c.3269T>C (p.Leu1090Pro) n.7968T>C | |
18 | g.23915344T>G | CA402058347 | LAMA3 | c.2873T>G (p.Leu958Arg) c.7700T>G (p.Leu2567Arg) c.4295T>G (p.Leu1432Arg) c.7532T>G (p.Leu2511Arg) c.2478T>G c.2705T>G (p.Leu902Arg) n.2278T>G c.7727T>G (p.Leu2576Arg) c.7718T>G (p.Leu2573Arg) c.7709T>G (p.Leu2570Arg) c.7595T>G (p.Leu2532Arg) c.7430T>G (p.Leu2477Arg) c.5579T>G (p.Leu1860Arg) c.3269T>G (p.Leu1090Arg) n.7968T>G |