Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209618570T>A | CA344585190 | LAMB3 | c.2791A>T (p.Lys931Ter) c.-3A>T (n.-3A>T) c.2599A>T (p.Lys867Ter) | |
1 | g.209618570T>C | CA344585191 | LAMB3 | c.2791A>G (p.Lys931Glu) c.-3A>G (n.-3A>G) c.2599A>G (p.Lys867Glu) | dbSNP |
1 | g.209618570T>G | CA344585192 | LAMB3 | c.2791A>C (p.Lys931Gln) c.-3A>C (n.-3A>C) c.2599A>C (p.Lys867Gln) | |
1 | g.209618570T= | CA2484296297 | LAMB3 | c.2791A= (p.Lys931=) c.-3A= (n.-3A=) c.2599A= (p.Lys867=) | |
1 | g.209618571C>A | CA344585193 | LAMB3 | c.2790G>T (p.Gln930His) c.-4G>T (n.-4G>T) c.2598G>T (p.Gln866His) | |
1 | g.209618571C= | CA2484296298 | LAMB3 | c.2790G= (p.Gln930=) c.-4G= (n.-4G=) c.2598G= (p.Gln866=) | |
1 | g.209618571C>G | CA344585194 | LAMB3 | c.2790G>C (p.Gln930His) c.-4G>C (n.-4G>C) c.2598G>C (p.Gln866His) | |
1 | g.209618571C>T | CA1375095 | LAMB3 | c.2790G>A (p.Gln930=) c.-4G>A (n.-4G>A) c.2598G>A (p.Gln866=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209618572T>A | CA344585195 | LAMB3 | c.2789A>T (p.Gln930Leu) c.-5A>T (n.-5A>T) c.2597A>T (p.Gln866Leu) | |
1 | g.209618572T>C | CA344585196 | LAMB3 | c.2789A>G (p.Gln930Arg) c.-5A>G (n.-5A>G) c.2597A>G (p.Gln866Arg) | COSMIC |
1 | g.209618572T>G | CA344585197 | LAMB3 | c.2789A>C (p.Gln930Pro) c.-5A>C (n.-5A>C) c.2597A>C (p.Gln866Pro) | dbSNP |
1 | g.209618572T= | CA2484296299 | LAMB3 | c.2789A= (p.Gln930=) c.-5A= (n.-5A=) c.2597A= (p.Gln866=) | |
1 | g.209618573G>A | CA344585198 | LAMB3 | c.2788C>T (p.Gln930Ter) c.-6C>T (n.-6C>T) c.2596C>T (p.Gln866Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.209618573G>C | CA344585199 | LAMB3 | c.2788C>G (p.Gln930Glu) c.-6C>G (n.-6C>G) c.2596C>G (p.Gln866Glu) | |
1 | g.209618573G>T | CA344585200 | LAMB3 | c.2788C>A (p.Gln930Lys) c.-6C>A (n.-6C>A) c.2596C>A (p.Gln866Lys) | COSMIC |
1 | g.209618574C>A | CA423030108 | LAMB3 | c.2787G>T (p.Leu929=) c.-7G>T (n.-7G>T) c.2595G>T (p.Leu865=) | |
1 | g.209618574C>G | CA423030109 | LAMB3 | c.2787G>C (p.Leu929=) c.-7G>C (n.-7G>C) c.2595G>C (p.Leu865=) | |
1 | g.209618574C>T | CA423030110 | LAMB3 | c.2787G>A (p.Leu929=) c.-7G>A (n.-7G>A) c.2595G>A (p.Leu865=) | gnomAD v4 |
1 | g.209618575A>C | CA344585201 | LAMB3 | c.2786T>G (p.Leu929Arg) c.-8T>G (n.-8T>G) c.2594T>G (p.Leu865Arg) | |
1 | g.209618575A>G | CA344585203 | LAMB3 | c.2786T>C (p.Leu929Pro) c.-8T>C (n.-8T>C) c.2594T>C (p.Leu865Pro) | |
1 | g.209618575A>T | CA344585202 | LAMB3 | c.2786T>A (p.Leu929Gln) c.-8T>A (n.-8T>A) c.2594T>A (p.Leu865Gln) | |
1 | g.209618576G>A | CA423030114 | LAMB3 | c.2785C>T (p.Leu929=) c.-9C>T (n.-9C>T) c.2593C>T (p.Leu865=) | ClinVar dbSNP |
1 | g.209618576G>C | CA344585204 | LAMB3 | c.2785C>G (p.Leu929Val) c.-9C>G (n.-9C>G) c.2593C>G (p.Leu865Val) | |
1 | g.209618576G>T | CA344585205 | LAMB3 | c.2785C>A (p.Leu929Met) c.-9C>A (n.-9C>A) c.2593C>A (p.Leu865Met) | |
1 | g.209618577A>C | CA423030115 | LAMB3 | c.2784T>G (p.Val928=) c.-10T>G (n.-10T>G) c.2592T>G (p.Val864=) | |
1 | g.209618577A>G | CA423030116 | LAMB3 | c.2784T>C (p.Val928=) c.-10T>C (n.-10T>C) c.2592T>C (p.Val864=) | |
1 | g.209618577A>T | CA423030117 | LAMB3 | c.2784T>A (p.Val928=) c.-10T>A (n.-10T>A) c.2592T>A (p.Val864=) | |
1 | g.209618578A>C | CA344585206 | LAMB3 | c.2783T>G (p.Val928Gly) c.-11T>G (n.-11T>G) c.2591T>G (p.Val864Gly) | |
1 | g.209618578A>G | CA344585207 | LAMB3 | c.2783T>C (p.Val928Ala) c.-11T>C (n.-11T>C) c.2591T>C (p.Val864Ala) | gnomAD v4 |
1 | g.209618578A>T | CA344585208 | LAMB3 | c.2783T>A (p.Val928Asp) c.-11T>A (n.-11T>A) c.2591T>A (p.Val864Asp) | |
1 | g.209618579C>A | CA344585210 | LAMB3 | c.2782G>T (p.Val928Phe) c.-12G>T (n.-12G>T) c.2590G>T (p.Val864Phe) | |
1 | g.209618579C= | CA2484296300 | LAMB3 | c.2782G= (p.Val928=) c.-12G= (n.-12G=) c.2590G= (p.Val864=) | |
1 | g.209618579C>G | CA344585211 | LAMB3 | c.2782G>C (p.Val928Leu) c.-12G>C (n.-12G>C) c.2590G>C (p.Val864Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209618579C>T | CA344585209 | LAMB3 | c.2782G>A (p.Val928Ile) c.-12G>A (n.-12G>A) c.2590G>A (p.Val864Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209618580A= | CA2484296301 | LAMB3 | c.2781T= (p.Thr927=) c.-13T= (n.-13T=) c.2589T= (p.Thr863=) | |
1 | g.209618580A>C | CA36750229 | LAMB3 | c.2781T>G (p.Thr927=) c.-13T>G (n.-13T>G) c.2589T>G (p.Thr863=) | dbSNP |
1 | g.209618580A>G | CA423030120 | LAMB3 | c.2781T>C (p.Thr927=) c.-13T>C (n.-13T>C) c.2589T>C (p.Thr863=) | |
1 | g.209618580A>T | CA423030121 | LAMB3 | c.2781T>A (p.Thr927=) c.-13T>A (n.-13T>A) c.2589T>A (p.Thr863=) | |
1 | g.209618581G>A | CA344585212 | LAMB3 | c.2780C>T (p.Thr927Ile) c.-14C>T (n.-14C>T) c.2588C>T (p.Thr863Ile) | |
1 | g.209618581G>C | CA344585213 | LAMB3 | c.2780C>G (p.Thr927Ser) c.-14C>G (n.-14C>G) c.2588C>G (p.Thr863Ser) | |
1 | g.209618581G>T | CA344585214 | LAMB3 | c.2780C>A (p.Thr927Asn) c.-14C>A (n.-14C>A) c.2588C>A (p.Thr863Asn) | |
1 | g.209618582T>A | CA344585215 | LAMB3 | c.2779A>T (p.Thr927Ser) c.-15A>T (n.-15A>T) c.2587A>T (p.Thr863Ser) | |
1 | g.209618582T>C | CA1375096 | LAMB3 | c.2779A>G (p.Thr927Ala) c.-15A>G (n.-15A>G) c.2587A>G (p.Thr863Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209618582T>G | CA344585216 | LAMB3 | c.2779A>C (p.Thr927Pro) c.-15A>C (n.-15A>C) c.2587A>C (p.Thr863Pro) | |
1 | g.209618582T= | CA2484296302 | LAMB3 | c.2779A= (p.Thr927=) c.-15A= (n.-15A=) c.2587A= (p.Thr863=) | |
1 | g.209618583A>C | CA423030123 | LAMB3 | c.2778T>G (p.Ala926=) c.-16T>G (n.-16T>G) c.2586T>G (p.Ala862=) | |
1 | g.209618583A>G | CA423030124 | LAMB3 | c.2778T>C (p.Ala926=) c.-16T>C (n.-16T>C) c.2586T>C (p.Ala862=) | ClinVar |
1 | g.209618583A>T | CA423030125 | LAMB3 | c.2778T>A (p.Ala926=) c.-16T>A (n.-16T>A) c.2586T>A (p.Ala862=) | |
1 | g.209618584G>A | CA344585218 | LAMB3 | c.2777C>T (p.Ala926Val) c.-17C>T (n.-17C>T) c.2585C>T (p.Ala862Val) | |
1 | g.209618584G>C | CA344585217 | LAMB3 | c.2777C>G (p.Ala926Gly) c.-17C>G (n.-17C>G) c.2585C>G (p.Ala862Gly) | ClinVar dbSNP |