UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209629693G>A | CA528652833 | LAMB3 | c.1132+44C>T (n.1132+44C>T) c.940+44C>T (n.940+44C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629693G= | CA2484300708 | LAMB3 | c.1132+44C= (n.1132+44C=) c.940+44C= (n.940+44C=) | |
| 1 | g.209629694T>C | CA2484300711 | LAMB3 | c.1132+43A>G (n.1132+43A>G) c.940+43A>G (n.940+43A>G) | dbSNP |
| 1 | g.209629694T= | CA2484300710 | LAMB3 | c.1132+43A= (n.1132+43A=) c.940+43A= (n.940+43A=) | |
| 1 | g.209629695_209629697delinsAAC | CA2484300713 | LAMB3 | c.1132+40_1132+42delinsGTT (n.1132+40_1132+42delinsGTT) c.940+40_940+42delinsGTT (n.940+40_940+42delinsGTT) | |
| 1 | g.209629696A>G | CA2650323349 | LAMB3 | c.1132+41T>C (n.1132+41T>C) c.940+41T>C (n.940+41T>C) | gnomAD v4 |
| 1 | g.209629697_209629698del | CA528652834 | LAMB3 | c.1132+40_1132+41del (n.1132+40_1132+41del) c.940+40_940+41del (n.940+40_940+41del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629697C= | CA2484300714 | LAMB3 | c.1132+40G= (n.1132+40G=) c.940+40G= (n.940+40G=) | |
| 1 | g.209629697C>G | CA36758389 | LAMB3 | c.1132+40G>C (n.1132+40G>C) c.940+40G>C (n.940+40G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629697C>T | CA529000272 | LAMB3 | c.1132+40G>A (n.1132+40G>A) c.940+40G>A (n.940+40G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629699G>T | CA2650323351 | LAMB3 | c.1132+38C>A (n.1132+38C>A) c.940+38C>A (n.940+38C>A) | gnomAD v4 |
| 1 | g.209629700A>C | CA2650323352 | LAMB3 | c.1132+37T>G (n.1132+37T>G) c.940+37T>G (n.940+37T>G) | gnomAD v4 |
| 1 | g.209629700A>T | CA2650323353 | LAMB3 | c.1132+37T>A (n.1132+37T>A) c.940+37T>A (n.940+37T>A) | gnomAD v4 |
| 1 | g.209629701C>T | CA2650323354 | LAMB3 | c.1132+36G>A (n.1132+36G>A) c.940+36G>A (n.940+36G>A) | gnomAD v4 |
| 1 | g.209629702A>G | CA2650323355 | LAMB3 | c.1132+35T>C (n.1132+35T>C) c.940+35T>C (n.940+35T>C) | gnomAD v4 |
| 1 | g.209629703A>C | CA2650323356 | LAMB3 | c.1132+34T>G (n.1132+34T>G) c.940+34T>G (n.940+34T>G) | gnomAD v4 |
| 1 | g.209629704A= | CA2484300715 | LAMB3 | c.1132+33T= (n.1132+33T=) c.940+33T= (n.940+33T=) | |
| 1 | g.209629704A>G | CA529000273 | LAMB3 | c.1132+33T>C (n.1132+33T>C) c.940+33T>C (n.940+33T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629705T>C | CA36758391 | LAMB3 | c.1132+32A>G (n.1132+32A>G) c.940+32A>G (n.940+32A>G) | dbSNP gnomAD v4 |
| 1 | g.209629705T= | CA2484300716 | LAMB3 | c.1132+32A= (n.1132+32A=) c.940+32A= (n.940+32A=) | |
| 1 | g.209629706G>A | CA529000274 | LAMB3 | c.1132+31C>T (n.1132+31C>T) c.940+31C>T (n.940+31C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629706G= | CA2484300717 | LAMB3 | c.1132+31C= (n.1132+31C=) c.940+31C= (n.940+31C=) | |
| 1 | g.209629706G>T | CA2650323357 | LAMB3 | c.1132+31C>A (n.1132+31C>A) c.940+31C>A (n.940+31C>A) | gnomAD v4 |
| 1 | g.209629709A= | CA2484300718 | LAMB3 | c.1132+28T= (n.1132+28T=) c.940+28T= (n.940+28T=) | |
| 1 | g.209629709A>G | CA2650323358 | LAMB3 | c.1132+28T>C (n.1132+28T>C) c.940+28T>C (n.940+28T>C) | gnomAD v4 |
| 1 | g.209629709A>T | CA730832671 | LAMB3 | c.1132+28T>A (n.1132+28T>A) c.940+28T>A (n.940+28T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629710C>G | CA2747563225 | LAMB3 | c.1132+27G>C (n.1132+27G>C) c.940+27G>C (n.940+27G>C) | |
| 1 | g.209629710C>T | CA2543163760 | LAMB3 | c.1132+27G>A (n.1132+27G>A) c.940+27G>A (n.940+27G>A) | gnomAD v4 |
| 1 | g.209629714G>A | CA1375689 | LAMB3 | c.1132+23C>T (n.1132+23C>T) c.940+23C>T (n.940+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629714G= | CA2484300719 | LAMB3 | c.1132+23C= (n.1132+23C=) c.940+23C= (n.940+23C=) | |
| 1 | g.209629714G>T | CA2574002999 | LAMB3 | c.1132+23C>A (n.1132+23C>A) c.940+23C>A (n.940+23C>A) | |
| 1 | g.209629715G>C | CA2484300721 | LAMB3 | c.1132+22C>G (n.1132+22C>G) c.940+22C>G (n.940+22C>G) | dbSNP |
| 1 | g.209629715G= | CA2484300720 | LAMB3 | c.1132+22C= (n.1132+22C=) c.940+22C= (n.940+22C=) | |
| 1 | g.209629718C= | CA2484300722 | LAMB3 | c.1132+19G= (n.1132+19G=) c.940+19G= (n.940+19G=) | |
| 1 | g.209629718C>G | CA2484300723 | LAMB3 | c.1132+19G>C (n.1132+19G>C) c.940+19G>C (n.940+19G>C) | ClinVar dbSNP |
| 1 | g.209629718C>T | CA1011768181 | LAMB3 | c.1132+19G>A (n.1132+19G>A) c.940+19G>A (n.940+19G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629719T>C | CA2650323359 | LAMB3 | c.1132+18A>G (n.1132+18A>G) c.940+18A>G (n.940+18A>G) | gnomAD v4 |
| 1 | g.209629720C>T | CA2650323360 | LAMB3 | c.1132+17G>A (n.1132+17G>A) c.940+17G>A (n.940+17G>A) | gnomAD v4 |
| 1 | g.209629721C= | CA1147017559 | LAMB3 | c.1132+16G= (n.1132+16G=) c.940+16G= (n.940+16G=) | |
| 1 | g.209629721C>G | CA2574003005 | LAMB3 | c.1132+16G>C (n.1132+16G>C) c.940+16G>C (n.940+16G>C) | |
| 1 | g.209629721C>T | CA1375690 | LAMB3 | c.1132+16G>A (n.1132+16G>A) c.940+16G>A (n.940+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629722G>A | CA529000275 | LAMB3 | c.1132+15C>T (n.1132+15C>T) c.940+15C>T (n.940+15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629722G= | CA2484300724 | LAMB3 | c.1132+15C= (n.1132+15C=) c.940+15C= (n.940+15C=) | |
| 1 | g.209629722G>T | CA2650323361 | LAMB3 | c.1132+15C>A (n.1132+15C>A) c.940+15C>A (n.940+15C>A) | gnomAD v4 |
| 1 | g.209629725G>A | CA2650323362 | LAMB3 | c.1132+12C>T (n.1132+12C>T) c.940+12C>T (n.940+12C>T) | ClinVar gnomAD v4 |
| 1 | g.209629726C>T | CA2574003020 | LAMB3 | c.1132+11G>A (n.1132+11G>A) c.940+11G>A (n.940+11G>A) | |
| 1 | g.209629727C>A | CA1011768184 | LAMB3 | c.1132+10G>T (n.1132+10G>T) c.940+10G>T (n.940+10G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629727C= | CA2484300725 | LAMB3 | c.1132+10G= (n.1132+10G=) c.940+10G= (n.940+10G=) | |
| 1 | g.209629727C>T | CA2650323363 | LAMB3 | c.1132+10G>A (n.1132+10G>A) c.940+10G>A (n.940+10G>A) | gnomAD v4 |
| 1 | g.209629729C= | CA2484300726 | LAMB3 | c.1132+8G= (n.1132+8G=) c.940+8G= (n.940+8G=) | |
| 1 | g.209629729C>T | CA1375691 | LAMB3 | c.1132+8G>A (n.1132+8G>A) c.940+8G>A (n.940+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629730T>A | CA2650323364 | LAMB3 | c.1132+7A>T (n.1132+7A>T) c.940+7A>T (n.940+7A>T) | gnomAD v4 |
| 1 | g.209629730T>C | CA1375692 | LAMB3 | c.1132+7A>G (n.1132+7A>G) c.940+7A>G (n.940+7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629730T= | CA1148394767 | LAMB3 | c.1132+7A= (n.1132+7A=) c.940+7A= (n.940+7A=) | |
| 1 | g.209629732del | CA2650323365 | LAMB3 | c.1132+5del (n.1132+5del) c.940+5del (n.940+5del) | gnomAD v4 |
| 1 | g.209629732C= | CA2484300739 | LAMB3 | c.1132+5G= (n.1132+5G=) c.940+5G= (n.940+5G=) | |
| 1 | g.209629732C>G | CA2484300740 | LAMB3 | c.1132+5G>C (n.1132+5G>C) c.940+5G>C (n.940+5G>C) | dbSNP |
| 1 | g.209629732C>T | CA1375693 | LAMB3 | c.1132+5G>A (n.1132+5G>A) c.940+5G>A (n.940+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629733T>G | CA2650323366 | LAMB3 | c.1132+4A>C (n.1132+4A>C) c.940+4A>C (n.940+4A>C) | gnomAD v4 |
| 1 | g.209629734C>A | CA730832702 | LAMB3 | c.1132+3G>T (n.1132+3G>T) c.940+3G>T (n.940+3G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629734C= | CA2484300744 | LAMB3 | c.1132+3G= (n.1132+3G=) c.940+3G= (n.940+3G=) | |
| 1 | g.209629734C>G | CA1375694 | LAMB3 | c.1132+3G>C (n.1132+3G>C) c.940+3G>C (n.940+3G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629735A= | CA1141255500 | LAMB3 | c.1132+2T= (n.1132+2T=) c.940+2T= (n.940+2T=) | |
| 1 | g.209629735A>C | CA344592125 | LAMB3 | c.1132+2T>G (n.1132+2T>G) c.940+2T>G (n.940+2T>G) | |
| 1 | g.209629735A>G | CA36758401 | LAMB3 | c.1132+2T>C (n.1132+2T>C) c.940+2T>C (n.940+2T>C) | dbSNP |
| 1 | g.209629735A>T | CA344592126 | LAMB3 | c.1132+2T>A (n.1132+2T>A) c.940+2T>A (n.940+2T>A) | |
| 1 | g.209629736C>A | CA344592127 | LAMB3 | c.1132+1G>T (n.1132+1G>T) c.940+1G>T (n.940+1G>T) | |
| 1 | g.209629736C= | CA1141353431 | LAMB3 | c.1132+1G= (n.1132+1G=) c.940+1G= (n.940+1G=) | |
| 1 | g.209629736C>G | CA36758403 | LAMB3 | c.1132+1G>C (n.1132+1G>C) c.940+1G>C (n.940+1G>C) | dbSNP |
| 1 | g.209629736C>T | CA344592128 | LAMB3 | c.1132+1G>A (n.1132+1G>A) c.940+1G>A (n.940+1G>A) | ClinVar |
| 1 | g.209629737A= | CA2484300751 | LAMB3 | c.1132T= (p.Ser378=) c.940T= (p.Ser314=) | |
| 1 | g.209629737A>C | CA344592129 | LAMB3 | c.1132T>G (p.Ser378Ala) c.940T>G (p.Ser314Ala) | dbSNP gnomAD v4 |
| 1 | g.209629737A>G | CA344592130 | LAMB3 | c.1132T>C (p.Ser378Pro) c.940T>C (p.Ser314Pro) | dbSNP |
| 1 | g.209629737A>T | CA344592131 | LAMB3 | c.1132T>A (p.Ser378Thr) c.940T>A (p.Ser314Thr) | dbSNP |
| 1 | g.209629738G>A | CA423032195 | LAMB3 | c.1131C>T (p.Ile377=) c.939C>T (p.Ile313=) | |
| 1 | g.209629738G>C | CA344592132 | LAMB3 | c.1131C>G (p.Ile377Met) c.939C>G (p.Ile313Met) | gnomAD v4 |
| 1 | g.209629738G>T | CA423032194 | LAMB3 | c.1131C>A (p.Ile377=) c.939C>A (p.Ile313=) | |
| 1 | g.209629739A>C | CA344592133 | LAMB3 | c.1130T>G (p.Ile377Ser) c.938T>G (p.Ile313Ser) | |
| 1 | g.209629739A>G | CA344592134 | LAMB3 | c.1130T>C (p.Ile377Thr) c.938T>C (p.Ile313Thr) | |
| 1 | g.209629739A>T | CA344592135 | LAMB3 | c.1130T>A (p.Ile377Asn) c.938T>A (p.Ile313Asn) | |
| 1 | g.209629740T>A | CA344592136 | LAMB3 | c.1129A>T (p.Ile377Phe) c.937A>T (p.Ile313Phe) | |
| 1 | g.209629740T>C | CA36758405 | LAMB3 | c.1129A>G (p.Ile377Val) c.937A>G (p.Ile313Val) | dbSNP |
| 1 | g.209629740T>G | CA344592137 | LAMB3 | c.1129A>C (p.Ile377Leu) c.937A>C (p.Ile313Leu) | |
| 1 | g.209629740T= | CA2484300761 | LAMB3 | c.1129A= (p.Ile377=) c.937A= (p.Ile313=) | |
| 1 | g.209629741G>A | CA423032196 | LAMB3 | c.1128C>T (p.Cys376=) c.936C>T (p.Cys312=) | gnomAD v4 |
| 1 | g.209629741G>C | CA344592138 | LAMB3 | c.1128C>G (p.Cys376Trp) c.936C>G (p.Cys312Trp) | |
| 1 | g.209629741G>T | CA344592139 | LAMB3 | c.1128C>A (p.Cys376Ter) c.936C>A (p.Cys312Ter) | |
| 1 | g.209629742C>A | CA344592140 | LAMB3 | c.1127G>T (p.Cys376Phe) c.935G>T (p.Cys312Phe) | |
| 1 | g.209629742C= | CA2484300767 | LAMB3 | c.1127G= (p.Cys376=) c.935G= (p.Cys312=) | |
| 1 | g.209629742C>G | CA344592141 | LAMB3 | c.1127G>C (p.Cys376Ser) c.935G>C (p.Cys312Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209629742C>T | CA344592142 | LAMB3 | c.1127G>A (p.Cys376Tyr) c.935G>A (p.Cys312Tyr) | dbSNP |
| 1 | g.209629743A= | CA2484300771 | LAMB3 | c.1126T= (p.Cys376=) c.934T= (p.Cys312=) | |
| 1 | g.209629743A>C | CA344592143 | LAMB3 | c.1126T>G (p.Cys376Gly) c.934T>G (p.Cys312Gly) | |
| 1 | g.209629743A>G | CA344592144 | LAMB3 | c.1126T>C (p.Cys376Arg) c.934T>C (p.Cys312Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629743A>T | CA344592145 | LAMB3 | c.1126T>A (p.Cys376Ser) c.934T>A (p.Cys312Ser) | |
| 1 | g.209629744G>A | CA423032197 | LAMB3 | c.1125C>T (p.Thr375=) c.933C>T (p.Thr311=) | |
| 1 | g.209629744G>C | CA423032198 | LAMB3 | c.1125C>G (p.Thr375=) c.933C>G (p.Thr311=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629744G= | CA2484300773 | LAMB3 | c.1125C= (p.Thr375=) c.933C= (p.Thr311=) | |
| 1 | g.209629744G>T | CA423032199 | LAMB3 | c.1125C>A (p.Thr375=) c.933C>A (p.Thr311=) | gnomAD v4 |
| 1 | g.209629745G>A | CA344592146 | LAMB3 | c.1124C>T (p.Thr375Ile) c.932C>T (p.Thr311Ile) | |
| 1 | g.209629745G>C | CA344592147 | LAMB3 | c.1124C>G (p.Thr375Ser) c.932C>G (p.Thr311Ser) | gnomAD v4 |
| 1 | g.209629745G= | CA1147133275 | LAMB3 | c.1124C= (p.Thr375=) c.932C= (p.Thr311=) | |
| 1 | g.209629745G>T | CA1375695 | LAMB3 | c.1124C>A (p.Thr375Asn) c.932C>A (p.Thr311Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629746T>A | CA344592148 | LAMB3 | c.1123A>T (p.Thr375Ser) c.931A>T (p.Thr311Ser) | |
| 1 | g.209629746T>C | CA344592149 | LAMB3 | c.1123A>G (p.Thr375Ala) c.931A>G (p.Thr311Ala) | |
| 1 | g.209629746T>G | CA344592150 | LAMB3 | c.1123A>C (p.Thr375Pro) c.931A>C (p.Thr311Pro) | gnomAD v4 |
| 1 | g.209629747C>A | CA344592152 | LAMB3 | c.1122G>T (p.Glu374Asp) c.930G>T (p.Glu310Asp) | dbSNP |
| 1 | g.209629747C= | CA2484300777 | LAMB3 | c.1122G= (p.Glu374=) c.930G= (p.Glu310=) | |
| 1 | g.209629747C>G | CA344592151 | LAMB3 | c.1122G>C (p.Glu374Asp) c.930G>C (p.Glu310Asp) | |
| 1 | g.209629747C>T | CA423032201 | LAMB3 | c.1122G>A (p.Glu374=) c.930G>A (p.Glu310=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629748T>A | CA344592153 | LAMB3 | c.1121A>T (p.Glu374Val) c.929A>T (p.Glu310Val) | |
| 1 | g.209629748T>C | CA344592154 | LAMB3 | c.1121A>G (p.Glu374Gly) c.929A>G (p.Glu310Gly) | |
| 1 | g.209629748T>G | CA344592155 | LAMB3 | c.1121A>C (p.Glu374Ala) c.929A>C (p.Glu310Ala) | |
| 1 | g.209629749C>A | CA344592156 | LAMB3 | c.1120G>T (p.Glu374Ter) c.928G>T (p.Glu310Ter) | |
| 1 | g.209629749C>G | CA344592157 | LAMB3 | c.1120G>C (p.Glu374Gln) c.928G>C (p.Glu310Gln) | |
| 1 | g.209629749C>T | CA344592158 | LAMB3 | c.1120G>A (p.Glu374Lys) c.928G>A (p.Glu310Lys) | |
| 1 | g.209629750C>A | CA344592159 | LAMB3 | c.1119G>T (p.Gln373His) c.927G>T (p.Gln309His) | |
| 1 | g.209629750C= | CA2484300780 | LAMB3 | c.1119G= (p.Gln373=) c.927G= (p.Gln309=) | |
| 1 | g.209629750C>G | CA344592160 | LAMB3 | c.1119G>C (p.Gln373His) c.927G>C (p.Gln309His) | |
| 1 | g.209629750C>T | CA1375696 | LAMB3 | c.1119G>A (p.Gln373=) c.927G>A (p.Gln309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629751T>A | CA344592161 | LAMB3 | c.1118A>T (p.Gln373Leu) c.926A>T (p.Gln309Leu) | |
| 1 | g.209629751T>C | CA344592162 | LAMB3 | c.1118A>G (p.Gln373Arg) c.926A>G (p.Gln309Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629751T>G | CA344592163 | LAMB3 | c.1118A>C (p.Gln373Pro) c.926A>C (p.Gln309Pro) | gnomAD v4 |
| 1 | g.209629751T= | CA2484300784 | LAMB3 | c.1118A= (p.Gln373=) c.926A= (p.Gln309=) | |
| 1 | g.209629752G>A | CA16040695 | LAMB3 | c.1117C>T (p.Gln373Ter) c.925C>T (p.Gln309Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629752G>C | CA344592165 | LAMB3 | c.1117C>G (p.Gln373Glu) c.925C>G (p.Gln309Glu) | |
| 1 | g.209629752G= | CA2484300785 | LAMB3 | c.1117C= (p.Gln373=) c.925C= (p.Gln309=) | |
| 1 | g.209629752G>T | CA344592164 | LAMB3 | c.1117C>A (p.Gln373Lys) c.925C>A (p.Gln309Lys) | |
| 1 | g.209629753A>C | CA344592166 | LAMB3 | c.1116T>G (p.Ile372Met) c.924T>G (p.Ile308Met) | |
| 1 | g.209629753A>G | CA423032206 | LAMB3 | c.1116T>C (p.Ile372=) c.924T>C (p.Ile308=) | |
| 1 | g.209629753A>T | CA423032207 | LAMB3 | c.1116T>A (p.Ile372=) c.924T>A (p.Ile308=) | |
| 1 | g.209629754A>C | CA344592167 | LAMB3 | c.1115T>G (p.Ile372Ser) c.923T>G (p.Ile308Ser) | |
| 1 | g.209629754A>G | CA344592168 | LAMB3 | c.1115T>C (p.Ile372Thr) c.923T>C (p.Ile308Thr) | gnomAD v4 |
| 1 | g.209629754A>T | CA344592169 | LAMB3 | c.1115T>A (p.Ile372Asn) c.923T>A (p.Ile308Asn) | |
| 1 | g.209629755T>A | CA344592170 | LAMB3 | c.1114A>T (p.Ile372Phe) c.922A>T (p.Ile308Phe) | |
| 1 | g.209629755T>C | CA344592171 | LAMB3 | c.1114A>G (p.Ile372Val) c.922A>G (p.Ile308Val) | gnomAD v4 |
| 1 | g.209629755T>G | CA344592172 | LAMB3 | c.1114A>C (p.Ile372Leu) c.922A>C (p.Ile308Leu) | |
| 1 | g.209629756G>A | CA423032208 | LAMB3 | c.1113C>T (p.Ser371=) c.921C>T (p.Ser307=) | |
| 1 | g.209629756G>C | CA423032209 | LAMB3 | c.1113C>G (p.Ser371=) c.921C>G (p.Ser307=) | |
| 1 | g.209629756G>T | CA423032210 | LAMB3 | c.1113C>A (p.Ser371=) c.921C>A (p.Ser307=) | |
| 1 | g.209629757G>A | CA344592173 | LAMB3 | c.1112C>T (p.Ser371Phe) c.920C>T (p.Ser307Phe) | |
| 1 | g.209629757G>C | CA344592174 | LAMB3 | c.1112C>G (p.Ser371Cys) c.920C>G (p.Ser307Cys) | |
| 1 | g.209629757G>T | CA344592175 | LAMB3 | c.1112C>A (p.Ser371Tyr) c.920C>A (p.Ser307Tyr) | |
| 1 | g.209629758A>C | CA344592176 | LAMB3 | c.1111T>G (p.Ser371Ala) c.919T>G (p.Ser307Ala) | |
| 1 | g.209629758A>G | CA344592177 | LAMB3 | c.1111T>C (p.Ser371Pro) c.919T>C (p.Ser307Pro) | |
| 1 | g.209629758A>T | CA344592178 | LAMB3 | c.1111T>A (p.Ser371Thr) c.919T>A (p.Ser307Thr) | |
| 1 | g.209629759A>C | CA423032213 | LAMB3 | c.1110T>G (p.Ala370=) c.918T>G (p.Ala306=) | |
| 1 | g.209629759A>G | CA423032215 | LAMB3 | c.1110T>C (p.Ala370=) c.918T>C (p.Ala306=) | |
| 1 | g.209629759A>T | CA423032214 | LAMB3 | c.1110T>A (p.Ala370=) c.918T>A (p.Ala306=) | |
| 1 | g.209629760G>A | CA344592181 | LAMB3 | c.1109C>T (p.Ala370Val) c.917C>T (p.Ala306Val) | |
| 1 | g.209629760G>C | CA344592180 | LAMB3 | c.1109C>G (p.Ala370Gly) c.917C>G (p.Ala306Gly) | |
| 1 | g.209629760G>T | CA344592179 | LAMB3 | c.1109C>A (p.Ala370Asp) c.917C>A (p.Ala306Asp) | |
| 1 | g.209629761C>A | CA344592182 | LAMB3 | c.1108G>T (p.Ala370Ser) c.916G>T (p.Ala306Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629761C= | CA2484300789 | LAMB3 | c.1108G= (p.Ala370=) c.916G= (p.Ala306=) | |
| 1 | g.209629761C>G | CA344592183 | LAMB3 | c.1108G>C (p.Ala370Pro) c.916G>C (p.Ala306Pro) | |
| 1 | g.209629761C>T | CA344592184 | LAMB3 | c.1108G>A (p.Ala370Thr) c.916G>A (p.Ala306Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629762T>A | CA423032216 | LAMB3 | c.1107A>T (p.Gly369=) c.915A>T (p.Gly305=) | |
| 1 | g.209629762T>C | CA423032217 | LAMB3 | c.1107A>G (p.Gly369=) c.915A>G (p.Gly305=) | |
| 1 | g.209629762T>G | CA423032218 | LAMB3 | c.1107A>C (p.Gly369=) c.915A>C (p.Gly305=) | |
| 1 | g.209629763C>A | CA344592185 | LAMB3 | c.1106G>T (p.Gly369Val) c.914G>T (p.Gly305Val) | |
| 1 | g.209629763C>G | CA344592186 | LAMB3 | c.1106G>C (p.Gly369Ala) c.914G>C (p.Gly305Ala) | gnomAD v4 |
| 1 | g.209629763C>T | CA344592187 | LAMB3 | c.1106G>A (p.Gly369Glu) c.914G>A (p.Gly305Glu) | |
| 1 | g.209629764C>A | CA344592188 | LAMB3 | c.1105G>T (p.Gly369Ter) c.913G>T (p.Gly305Ter) | |
| 1 | g.209629764C>G | CA344592189 | LAMB3 | c.1105G>C (p.Gly369Arg) c.913G>C (p.Gly305Arg) | |
| 1 | g.209629764C>T | CA344592190 | LAMB3 | c.1105G>A (p.Gly369Arg) c.913G>A (p.Gly305Arg) | |
| 1 | g.209629765C>A | CA423032222 | LAMB3 | c.1104G>T (p.Pro368=) c.912G>T (p.Pro304=) | |
| 1 | g.209629765C= | CA1144135345 | LAMB3 | c.1104G= (p.Pro368=) c.912G= (p.Pro304=) | |
| 1 | g.209629765C>G | CA423032223 | LAMB3 | c.1104G>C (p.Pro368=) c.912G>C (p.Pro304=) | ClinVar |
| 1 | g.209629765C>T | CA1375697 | LAMB3 | c.1104G>A (p.Pro368=) c.912G>A (p.Pro304=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629765_209629766delinsCG | CA2484300793 | LAMB3 | c.1103_1104delinsCG (p.Pro368=) c.911_912delinsCG (p.Pro304=) | |
| 1 | g.209629766G>A | CA1375698 | LAMB3 | c.1103C>T (p.Pro368Leu) c.911C>T (p.Pro304Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209629766G>C | CA344592191 | LAMB3 | c.1103C>G (p.Pro368Arg) c.911C>G (p.Pro304Arg) | |
| 1 | g.209629766G= | CA1145945800 | LAMB3 | c.1103C= (p.Pro368=) c.911C= (p.Pro304=) | |
| 1 | g.209629766G>T | CA344592192 | LAMB3 | c.1103C>A (p.Pro368Gln) c.911C>A (p.Pro304Gln) | |
| 1 | g.209629768del | CA529000276 | LAMB3 | c.1103del (p.Pro368ArgfsTer28) c.911del (p.Pro304ArgfsTer28) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629767G>A | CA344592195 | LAMB3 | c.1102C>T (p.Pro368Ser) c.910C>T (p.Pro304Ser) | gnomAD v4 |
| 1 | g.209629767G>C | CA344592194 | LAMB3 | c.1102C>G (p.Pro368Ala) c.910C>G (p.Pro304Ala) | |
| 1 | g.209629767G>T | CA344592193 | LAMB3 | c.1102C>A (p.Pro368Thr) c.910C>A (p.Pro304Thr) | |
| 1 | g.209629768G>A | CA423032225 | LAMB3 | c.1101C>T (p.Arg367=) c.909C>T (p.Arg303=) | |
| 1 | g.209629768G>C | CA423032227 | LAMB3 | c.1101C>G (p.Arg367=) c.909C>G (p.Arg303=) | |
| 1 | g.209629768G>T | CA423032228 | LAMB3 | c.1101C>A (p.Arg367=) c.909C>A (p.Arg303=) | ClinVar |
| 1 | g.209629769C>A | CA344592196 | LAMB3 | c.1100G>T (p.Arg367Leu) c.908G>T (p.Arg303Leu) | gnomAD v4 |
| 1 | g.209629769C= | CA2484300803 | LAMB3 | c.1100G= (p.Arg367=) c.908G= (p.Arg303=) | |
| 1 | g.209629769C>G | CA344592197 | LAMB3 | c.1100G>C (p.Arg367Pro) c.908G>C (p.Arg303Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629769C>T | CA1375699 | LAMB3 | c.1100G>A (p.Arg367His) c.908G>A (p.Arg303His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209629770G>A | CA1375701 | LAMB3 | c.1099C>T (p.Arg367Cys) c.907C>T (p.Arg303Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209629770G>C | CA344592198 | LAMB3 | c.1099C>G (p.Arg367Gly) c.907C>G (p.Arg303Gly) | |
| 1 | g.209629770G= | CA1141737038 | LAMB3 | c.1099C= (p.Arg367=) c.907C= (p.Arg303=) | |
| 1 | g.209629770G>T | CA1375700 | LAMB3 | c.1099C>A (p.Arg367Ser) c.907C>A (p.Arg303Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629771C>A | CA423032229 | LAMB3 | c.1098G>T (p.Arg366=) c.906G>T (p.Arg302=) | |
| 1 | g.209629771C= | CA2484300806 | LAMB3 | c.1098G= (p.Arg366=) c.906G= (p.Arg302=) | |
| 1 | g.209629771C>G | CA36758424 | LAMB3 | c.1098G>C (p.Arg366=) c.906G>C (p.Arg302=) | dbSNP |
| 1 | g.209629771C>T | CA423032230 | LAMB3 | c.1098G>A (p.Arg366=) c.906G>A (p.Arg302=) | |
| 1 | g.209629772C>A | CA344592199 | LAMB3 | c.1097G>T (p.Arg366Leu) c.905G>T (p.Arg302Leu) | |
| 1 | g.209629772C= | CA2484300810 | LAMB3 | c.1097G= (p.Arg366=) c.905G= (p.Arg302=) | |
| 1 | g.209629772C>G | CA344592200 | LAMB3 | c.1097G>C (p.Arg366Pro) c.905G>C (p.Arg302Pro) | |
| 1 | g.209629772C>T | CA36758426 | LAMB3 | c.1097G>A (p.Arg366Gln) c.905G>A (p.Arg302Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209629773G>A | CA1375702 | LAMB3 | c.1096C>T (p.Arg366Trp) c.904C>T (p.Arg302Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629773G>C | CA36758430 | LAMB3 | c.1096C>G (p.Arg366Gly) c.904C>G (p.Arg302Gly) | dbSNP |
| 1 | g.209629773G= | CA1141874061 | LAMB3 | c.1096C= (p.Arg366=) c.904C= (p.Arg302=) | |
| 1 | g.209629773G>T | CA423032234 | LAMB3 | c.1096C>A (p.Arg366=) c.904C>A (p.Arg302=) | |
| 1 | g.209629774G>A | CA423032235 | LAMB3 | c.1095C>T (p.Asn365=) c.903C>T (p.Asn301=) | ClinVar |
| 1 | g.209629774G>C | CA344592206 | LAMB3 | c.1095C>G (p.Asn365Lys) c.903C>G (p.Asn301Lys) | COSMIC |
| 1 | g.209629774G>T | CA344592208 | LAMB3 | c.1095C>A (p.Asn365Lys) c.903C>A (p.Asn301Lys) | |
| 1 | g.209629775T>A | CA344592211 | LAMB3 | c.1094A>T (p.Asn365Ile) c.902A>T (p.Asn301Ile) | |
| 1 | g.209629775T>C | CA344592213 | LAMB3 | c.1094A>G (p.Asn365Ser) c.902A>G (p.Asn301Ser) | |
| 1 | g.209629775T>G | CA344592215 | LAMB3 | c.1094A>C (p.Asn365Thr) c.902A>C (p.Asn301Thr) | |
| 1 | g.209629776T>A | CA344592219 | LAMB3 | c.1093A>T (p.Asn365Tyr) c.901A>T (p.Asn301Tyr) | |
| 1 | g.209629776T>C | CA344592221 | LAMB3 | c.1093A>G (p.Asn365Asp) c.901A>G (p.Asn301Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629776T>G | CA344592223 | LAMB3 | c.1093A>C (p.Asn365His) c.901A>C (p.Asn301His) | |
| 1 | g.209629776T= | CA2484300816 | LAMB3 | c.1093A= (p.Asn365=) c.901A= (p.Asn301=) | |
| 1 | g.209629777C>A | CA423032237 | LAMB3 | c.1092G>T (p.Arg364=) c.900G>T (p.Arg300=) | |
| 1 | g.209629777C>G | CA423032238 | LAMB3 | c.1092G>C (p.Arg364=) c.900G>C (p.Arg300=) | |
| 1 | g.209629777C>T | CA423032239 | LAMB3 | c.1092G>A (p.Arg364=) c.900G>A (p.Arg300=) | |
| 1 | g.209629778C>A | CA344592226 | LAMB3 | c.1091G>T (p.Arg364Leu) c.899G>T (p.Arg300Leu) | |
| 1 | g.209629778C= | CA2484300821 | LAMB3 | c.1091G= (p.Arg364=) c.899G= (p.Arg300=) | |
| 1 | g.209629778C>G | CA344592228 | LAMB3 | c.1091G>C (p.Arg364Pro) c.899G>C (p.Arg300Pro) | |
| 1 | g.209629778C>T | CA1375703 | LAMB3 | c.1091G>A (p.Arg364Gln) c.899G>A (p.Arg300Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629779G>A | CA1375704 | LAMB3 | c.1090C>T (p.Arg364Trp) c.898C>T (p.Arg300Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629779G>C | CA344592234 | LAMB3 | c.1090C>G (p.Arg364Gly) c.898C>G (p.Arg300Gly) | |
| 1 | g.209629779G= | CA1143746982 | LAMB3 | c.1090C= (p.Arg364=) c.898C= (p.Arg300=) | |
| 1 | g.209629779G>T | CA423032243 | LAMB3 | c.1090C>A (p.Arg364=) c.898C>A (p.Arg300=) | |
| 1 | g.209629780G>A | CA423032244 | LAMB3 | c.1089C>T (p.Phe363=) c.897C>T (p.Phe299=) | |
| 1 | g.209629780G>C | CA344592237 | LAMB3 | c.1089C>G (p.Phe363Leu) c.897C>G (p.Phe299Leu) | |
| 1 | g.209629780G>T | CA344592239 | LAMB3 | c.1089C>A (p.Phe363Leu) c.897C>A (p.Phe299Leu) | |
| 1 | g.209629781A>C | CA344592242 | LAMB3 | c.1088T>G (p.Phe363Cys) c.896T>G (p.Phe299Cys) | |
| 1 | g.209629781A>G | CA344592244 | LAMB3 | c.1088T>C (p.Phe363Ser) c.896T>C (p.Phe299Ser) | |
| 1 | g.209629781A>T | CA344592246 | LAMB3 | c.1088T>A (p.Phe363Tyr) c.896T>A (p.Phe299Tyr) | |
| 1 | g.209629782A>C | CA344592250 | LAMB3 | c.1087T>G (p.Phe363Val) c.895T>G (p.Phe299Val) | |
| 1 | g.209629782A>G | CA344592252 | LAMB3 | c.1087T>C (p.Phe363Leu) c.895T>C (p.Phe299Leu) | |
| 1 | g.209629782A>T | CA344592254 | LAMB3 | c.1087T>A (p.Phe363Ile) c.895T>A (p.Phe299Ile) | |
| 1 | g.209629783A>C | CA344592258 | LAMB3 | c.1086T>G (p.Tyr362Ter) c.894T>G (p.Tyr298Ter) | |
| 1 | g.209629783A>G | CA423032245 | LAMB3 | c.1086T>C (p.Tyr362=) c.894T>C (p.Tyr298=) | |
| 1 | g.209629783A>T | CA344592260 | LAMB3 | c.1086T>A (p.Tyr362Ter) c.894T>A (p.Tyr298Ter) | |
| 1 | g.209629784T>A | CA344592265 | LAMB3 | c.1085A>T (p.Tyr362Phe) c.893A>T (p.Tyr298Phe) | |
| 1 | g.209629784T>C | CA1375705 | LAMB3 | c.1085A>G (p.Tyr362Cys) c.893A>G (p.Tyr298Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209629784T>G | CA344592263 | LAMB3 | c.1085A>C (p.Tyr362Ser) c.893A>C (p.Tyr298Ser) | |
| 1 | g.209629784T= | CA2484300826 | LAMB3 | c.1085A= (p.Tyr362=) c.893A= (p.Tyr298=) | |
| 1 | g.209629785A>C | CA344592270 | LAMB3 | c.1084T>G (p.Tyr362Asp) c.892T>G (p.Tyr298Asp) | |
| 1 | g.209629785A>G | CA344592272 | LAMB3 | c.1084T>C (p.Tyr362His) c.892T>C (p.Tyr298His) | gnomAD v4 |
| 1 | g.209629785A>T | CA344592274 | LAMB3 | c.1084T>A (p.Tyr362Asn) c.892T>A (p.Tyr298Asn) | |
| 1 | g.209629786G>A | CA423032249 | LAMB3 | c.1083C>T (p.His361=) c.891C>T (p.His297=) | |
| 1 | g.209629786G>C | CA344592277 | LAMB3 | c.1083C>G (p.His361Gln) c.891C>G (p.His297Gln) | |
| 1 | g.209629786G>T | CA344592279 | LAMB3 | c.1083C>A (p.His361Gln) c.891C>A (p.His297Gln) | |
| 1 | g.209629787T>A | CA344592283 | LAMB3 | c.1082A>T (p.His361Leu) c.890A>T (p.His297Leu) | COSMIC |
| 1 | g.209629787T>C | CA344592286 | LAMB3 | c.1082A>G (p.His361Arg) c.890A>G (p.His297Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629787T>G | CA344592288 | LAMB3 | c.1082A>C (p.His361Pro) c.890A>C (p.His297Pro) | |
| 1 | g.209629787T= | CA2484300827 | LAMB3 | c.1082A= (p.His361=) c.890A= (p.His297=) | |
| 1 | g.209629788G>A | CA344592291 | LAMB3 | c.1081C>T (p.His361Tyr) c.889C>T (p.His297Tyr) | |
| 1 | g.209629788G>C | CA344592293 | LAMB3 | c.1081C>G (p.His361Asp) c.889C>G (p.His297Asp) | |
| 1 | g.209629788G>T | CA344592295 | LAMB3 | c.1081C>A (p.His361Asn) c.889C>A (p.His297Asn) | |
| 1 | g.209629789C>A | CA423032250 | LAMB3 | c.1080G>T (p.Leu360=) c.888G>T (p.Leu296=) | |
| 1 | g.209629789C= | CA1141542252 | LAMB3 | c.1080G= (p.Leu360=) c.888G= (p.Leu296=) | |
| 1 | g.209629789C>G | CA423032251 | LAMB3 | c.1080G>C (p.Leu360=) c.888G>C (p.Leu296=) | |
| 1 | g.209629789C>T | CA1375706 | LAMB3 | c.1080G>A (p.Leu360=) c.888G>A (p.Leu296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629790A>C | CA344592305 | LAMB3 | c.1079T>G (p.Leu360Arg) c.887T>G (p.Leu296Arg) | |
| 1 | g.209629790A>G | CA344592300 | LAMB3 | c.1079T>C (p.Leu360Pro) c.887T>C (p.Leu296Pro) | |
| 1 | g.209629790A>T | CA344592303 | LAMB3 | c.1079T>A (p.Leu360Gln) c.887T>A (p.Leu296Gln) | |
| 1 | g.209629791G>A | CA423032252 | LAMB3 | c.1078C>T (p.Leu360=) c.886C>T (p.Leu296=) | COSMIC |
| 1 | g.209629791G>C | CA344592308 | LAMB3 | c.1078C>G (p.Leu360Val) c.886C>G (p.Leu296Val) | |
| 1 | g.209629791G>T | CA344592310 | LAMB3 | c.1078C>A (p.Leu360Met) c.886C>A (p.Leu296Met) | |
| 1 | g.209629792C>A | CA344592312 | LAMB3 | c.1077G>T (p.Gln359His) c.885G>T (p.Gln295His) | |
| 1 | g.209629792C= | CA2484300828 | LAMB3 | c.1077G= (p.Gln359=) c.885G= (p.Gln295=) | |
| 1 | g.209629792C>G | CA344592314 | LAMB3 | c.1077G>C (p.Gln359His) c.885G>C (p.Gln295His) | |
| 1 | g.209629792C>T | CA423032253 | LAMB3 | c.1077G>A (p.Gln359=) c.885G>A (p.Gln295=) | dbSNP |