| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209617519C>A | CA344584160 | LAMB3 | c.3119G>T (p.Trp1040Leu) c.326G>T (p.Trp109Leu) c.2927G>T (p.Trp976Leu) | |
| 1 | g.209617519C= | CA2484295889 | LAMB3 | c.3119G= (p.Trp1040=) c.326G= (p.Trp109=) c.2927G= (p.Trp976=) | |
| 1 | g.209617519C>G | CA344584161 | LAMB3 | c.3119G>C (p.Trp1040Ser) c.326G>C (p.Trp109Ser) c.2927G>C (p.Trp976Ser) | |
| 1 | g.209617519C>T | CA16040688 | LAMB3 | c.3119G>A (p.Trp1040Ter) c.326G>A (p.Trp109Ter) c.2927G>A (p.Trp976Ter) | ClinVar dbSNP |
| 1 | g.209617520A>C | CA344584163 | LAMB3 | c.3118T>G (p.Trp1040Gly) c.325T>G (p.Trp109Gly) c.2926T>G (p.Trp976Gly) | |
| 1 | g.209617520A>G | CA344584166 | LAMB3 | c.3118T>C (p.Trp1040Arg) c.325T>C (p.Trp109Arg) c.2926T>C (p.Trp976Arg) | |
| 1 | g.209617520A>T | CA344584165 | LAMB3 | c.3118T>A (p.Trp1040Arg) c.325T>A (p.Trp109Arg) c.2926T>A (p.Trp976Arg) | |
| 1 | g.209617521G>A | CA423029549 | LAMB3 | c.3117C>T (p.Phe1039=) c.324C>T (p.Phe108=) c.2925C>T (p.Phe975=) | |
| 1 | g.209617521G>C | CA344584167 | LAMB3 | c.3117C>G (p.Phe1039Leu) c.324C>G (p.Phe108Leu) c.2925C>G (p.Phe975Leu) | |
| 1 | g.209617521G>T | CA344584168 | LAMB3 | c.3117C>A (p.Phe1039Leu) c.324C>A (p.Phe108Leu) c.2925C>A (p.Phe975Leu) | |
| 1 | g.209617522A>C | CA344584169 | LAMB3 | c.3116T>G (p.Phe1039Cys) c.323T>G (p.Phe108Cys) c.2924T>G (p.Phe975Cys) | |
| 1 | g.209617522A>G | CA344584170 | LAMB3 | c.3116T>C (p.Phe1039Ser) c.323T>C (p.Phe108Ser) c.2924T>C (p.Phe975Ser) | |
| 1 | g.209617522A>T | CA344584171 | LAMB3 | c.3116T>A (p.Phe1039Tyr) c.323T>A (p.Phe108Tyr) c.2924T>A (p.Phe975Tyr) | |
| 1 | g.209617523A= | CA2484295890 | LAMB3 | c.3115T= (p.Phe1039=) c.322T= (p.Phe108=) c.2923T= (p.Phe975=) | |
| 1 | g.209617523A>C | CA344584172 | LAMB3 | c.3115T>G (p.Phe1039Val) c.322T>G (p.Phe108Val) c.2923T>G (p.Phe975Val) | |
| 1 | g.209617523A>G | CA344584173 | LAMB3 | c.3115T>C (p.Phe1039Leu) c.322T>C (p.Phe108Leu) c.2923T>C (p.Phe975Leu) | |
| 1 | g.209617523A>T | CA344584174 | LAMB3 | c.3115T>A (p.Phe1039Ile) c.322T>A (p.Phe108Ile) c.2923T>A (p.Phe975Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209617524G>A | CA423029552 | LAMB3 | c.3114C>T (p.Asp1038=) c.321C>T (p.Asp107=) c.2922C>T (p.Asp974=) | |
| 1 | g.209617524G>C | CA344584176 | LAMB3 | c.3114C>G (p.Asp1038Glu) c.321C>G (p.Asp107Glu) c.2922C>G (p.Asp974Glu) | |
| 1 | g.209617524G>T | CA344584175 | LAMB3 | c.3114C>A (p.Asp1038Glu) c.321C>A (p.Asp107Glu) c.2922C>A (p.Asp974Glu) | |
| 1 | g.209617525T>A | CA344584177 | LAMB3 | c.3113A>T (p.Asp1038Val) c.320A>T (p.Asp107Val) c.2921A>T (p.Asp974Val) | |
| 1 | g.209617525T>C | CA344584178 | LAMB3 | c.3113A>G (p.Asp1038Gly) c.320A>G (p.Asp107Gly) c.2921A>G (p.Asp974Gly) | |
| 1 | g.209617525T>G | CA344584183 | LAMB3 | c.3113A>C (p.Asp1038Ala) c.320A>C (p.Asp107Ala) c.2921A>C (p.Asp974Ala) | |
| 1 | g.209617526C>A | CA344584184 | LAMB3 | c.3112G>T (p.Asp1038Tyr) c.319G>T (p.Asp107Tyr) c.2920G>T (p.Asp974Tyr) | |
| 1 | g.209617526C= | CA2484295891 | LAMB3 | c.3112G= (p.Asp1038=) c.319G= (p.Asp107=) c.2920G= (p.Asp974=) | |
| 1 | g.209617526C>G | CA344584186 | LAMB3 | c.3112G>C (p.Asp1038His) c.319G>C (p.Asp107His) c.2920G>C (p.Asp974His) | |
| 1 | g.209617526C>T | CA344584188 | LAMB3 | c.3112G>A (p.Asp1038Asn) c.319G>A (p.Asp107Asn) c.2920G>A (p.Asp974Asn) | dbSNP |
| 1 | g.209617527A>C | CA423029554 | LAMB3 | c.3111T>G (p.Gly1037=) c.318T>G (p.Gly106=) c.2919T>G (p.Gly973=) | |
| 1 | g.209617527A>G | CA423029555 | LAMB3 | c.3111T>C (p.Gly1037=) c.318T>C (p.Gly106=) c.2919T>C (p.Gly973=) | |
| 1 | g.209617527A>T | CA423029556 | LAMB3 | c.3111T>A (p.Gly1037=) c.318T>A (p.Gly106=) c.2919T>A (p.Gly973=) | gnomAD v4 |
| 1 | g.209617528C>A | CA344584195 | LAMB3 | c.3110G>T (p.Gly1037Val) c.317G>T (p.Gly106Val) c.2918G>T (p.Gly973Val) | |
| 1 | g.209617528C>G | CA344584191 | LAMB3 | c.3110G>C (p.Gly1037Ala) c.317G>C (p.Gly106Ala) c.2918G>C (p.Gly973Ala) | |
| 1 | g.209617528C>T | CA344584193 | LAMB3 | c.3110G>A (p.Gly1037Asp) c.317G>A (p.Gly106Asp) c.2918G>A (p.Gly973Asp) | gnomAD v4 |
| 1 | g.209617529C>A | CA344584199 | LAMB3 | c.3109G>T (p.Gly1037Cys) c.316G>T (p.Gly106Cys) c.2917G>T (p.Gly973Cys) | |
| 1 | g.209617529C>G | CA344584201 | LAMB3 | c.3109G>C (p.Gly1037Arg) c.316G>C (p.Gly106Arg) c.2917G>C (p.Gly973Arg) | |
| 1 | g.209617529C>T | CA344584203 | LAMB3 | c.3109G>A (p.Gly1037Ser) c.316G>A (p.Gly106Ser) c.2917G>A (p.Gly973Ser) | |
| 1 | g.209617530C>A | CA423029560 | LAMB3 | c.3108G>T (p.Leu1036=) c.315G>T (p.Leu105=) c.2916G>T (p.Leu972=) | gnomAD v4 |
| 1 | g.209617530C>G | CA423029559 | LAMB3 | c.3108G>C (p.Leu1036=) c.315G>C (p.Leu105=) c.2916G>C (p.Leu972=) | |
| 1 | g.209617530C>T | CA423029558 | LAMB3 | c.3108G>A (p.Leu1036=) c.315G>A (p.Leu105=) c.2916G>A (p.Leu972=) | |
| 1 | g.209617531A>C | CA344584205 | LAMB3 | c.3107T>G (p.Leu1036Arg) c.314T>G (p.Leu105Arg) c.2915T>G (p.Leu972Arg) | |
| 1 | g.209617531A>G | CA344584207 | LAMB3 | c.3107T>C (p.Leu1036Pro) c.314T>C (p.Leu105Pro) c.2915T>C (p.Leu972Pro) | |
| 1 | g.209617531A>T | CA344584209 | LAMB3 | c.3107T>A (p.Leu1036Gln) c.314T>A (p.Leu105Gln) c.2915T>A (p.Leu972Gln) | |
| 1 | g.209617532G>A | CA423029563 | LAMB3 | c.3106C>T (p.Leu1036=) c.313C>T (p.Leu105=) c.2914C>T (p.Leu972=) | |
| 1 | g.209617532G>C | CA344584211 | LAMB3 | c.3106C>G (p.Leu1036Val) c.313C>G (p.Leu105Val) c.2914C>G (p.Leu972Val) | |
| 1 | g.209617532G>T | CA344584213 | LAMB3 | c.3106C>A (p.Leu1036Met) c.313C>A (p.Leu105Met) c.2914C>A (p.Leu972Met) | |
| 1 | g.209617533C>A | CA344584215 | LAMB3 | c.3105G>T (p.Gln1035His) c.312G>T (p.Gln104His) c.2913G>T (p.Gln971His) | |
| 1 | g.209617533C>G | CA344584217 | LAMB3 | c.3105G>C (p.Gln1035His) c.312G>C (p.Gln104His) c.2913G>C (p.Gln971His) | |
| 1 | g.209617533C>T | CA423029566 | LAMB3 | c.3105G>A (p.Gln1035=) c.312G>A (p.Gln104=) c.2913G>A (p.Gln971=) | |
| 1 | g.209617534T>A | CA344584219 | LAMB3 | c.3104A>T (p.Gln1035Leu) c.311A>T (p.Gln104Leu) c.2912A>T (p.Gln971Leu) | |
| 1 | g.209617534T>C | CA344584221 | LAMB3 | c.3104A>G (p.Gln1035Arg) c.311A>G (p.Gln104Arg) c.2912A>G (p.Gln971Arg) |