| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209618565C>A | CA344585177 | LAMB3 | c.2796G>T (p.Met932Ile) c.3G>T (p.Met1Ile) c.2604G>T (p.Met868Ile) | |
| 1 | g.209618565C>G | CA344585178 | LAMB3 | c.2796G>C (p.Met932Ile) c.3G>C (p.Met1Ile) c.2604G>C (p.Met868Ile) | |
| 1 | g.209618565C>T | CA344585179 | LAMB3 | c.2796G>A (p.Met932Ile) c.3G>A (p.Met1Ile) c.2604G>A (p.Met868Ile) | gnomAD v4 |
| 1 | g.209618566A= | CA1141705368 | LAMB3 | c.2795T= (p.Met932=) c.2T= (p.Met1=) c.2603T= (p.Met868=) | |
| 1 | g.209618566A>C | CA344585181 | LAMB3 | c.2795T>G (p.Met932Arg) c.2T>G (p.Met1Arg) c.2603T>G (p.Met868Arg) | |
| 1 | g.209618566A>G | CA1375094 | LAMB3 | c.2795T>C (p.Met932Thr) c.2T>C (p.Met1Thr) c.2603T>C (p.Met868Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618566A>T | CA344585180 | LAMB3 | c.2795T>A (p.Met932Lys) c.2T>A (p.Met1Lys) c.2603T>A (p.Met868Lys) | |
| 1 | g.209618567T>A | CA344585182 | LAMB3 | c.2794A>T (p.Met932Leu) c.1A>T (p.Met1Leu) c.2602A>T (p.Met868Leu) | |
| 1 | g.209618567T>C | CA344585183 | LAMB3 | c.2794A>G (p.Met932Val) c.1A>G (p.Met1Val) c.2602A>G (p.Met868Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209618567T>G | CA344585184 | LAMB3 | c.2794A>C (p.Met932Leu) c.1A>C (p.Met1Leu) c.2602A>C (p.Met868Leu) | |
| 1 | g.209618567T= | CA2484296295 | LAMB3 | c.2794A= (p.Met932=) c.1A= (p.Met1=) c.2602A= (p.Met868=) | |
| 1 | g.209618568C>A | CA344585185 | LAMB3 | c.2793G>T (p.Lys931Asn) c.-1G>T (n.-1G>T) c.2601G>T (p.Lys867Asn) | |
| 1 | g.209618568C= | CA2484296296 | LAMB3 | c.2793G= (p.Lys931=) c.-1G= (n.-1G=) c.2601G= (p.Lys867=) | |
| 1 | g.209618568C>G | CA344585186 | LAMB3 | c.2793G>C (p.Lys931Asn) c.-1G>C (n.-1G>C) c.2601G>C (p.Lys867Asn) | |
| 1 | g.209618568C>T | CA423030098 | LAMB3 | c.2793G>A (p.Lys931=) c.-1G>A (n.-1G>A) c.2601G>A (p.Lys867=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209618569T>A | CA344585187 | LAMB3 | c.2792A>T (p.Lys931Met) c.-2A>T (n.-2A>T) c.2600A>T (p.Lys867Met) | |
| 1 | g.209618569T>C | CA344585188 | LAMB3 | c.2792A>G (p.Lys931Arg) c.-2A>G (n.-2A>G) c.2600A>G (p.Lys867Arg) | |
| 1 | g.209618569T>G | CA344585189 | LAMB3 | c.2792A>C (p.Lys931Thr) c.-2A>C (n.-2A>C) c.2600A>C (p.Lys867Thr) | |
| 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=) |