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.209627412G>A | CA344591011 | LAMB3 | c.1456C>T (p.His486Tyr) c.1264C>T (p.His422Tyr) | |
| 1 | g.209627412G>C | CA344591012 | LAMB3 | c.1456C>G (p.His486Asp) c.1264C>G (p.His422Asp) | |
| 1 | g.209627412G>T | CA344591013 | LAMB3 | c.1456C>A (p.His486Asn) c.1264C>A (p.His422Asn) | |
| 1 | g.209627413C>A | CA423031509 | LAMB3 | c.1455G>T (p.Pro485=) c.1263G>T (p.Pro421=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627413C= | CA2484299912 | LAMB3 | c.1455G= (p.Pro485=) c.1263G= (p.Pro421=) | |
| 1 | g.209627413C>G | CA423031510 | LAMB3 | c.1455G>C (p.Pro485=) c.1263G>C (p.Pro421=) | ClinVar dbSNP |
| 1 | g.209627413C>T | CA36757283 | LAMB3 | c.1455G>A (p.Pro485=) c.1263G>A (p.Pro421=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209627414G>A | CA1375596 | LAMB3 | c.1454C>T (p.Pro485Leu) c.1262C>T (p.Pro421Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209627414G>C | CA344591014 | LAMB3 | c.1454C>G (p.Pro485Arg) c.1262C>G (p.Pro421Arg) | gnomAD v4 |
| 1 | g.209627414G= | CA2484299913 | LAMB3 | c.1454C= (p.Pro485=) c.1262C= (p.Pro421=) | |
| 1 | g.209627414G>T | CA344591015 | LAMB3 | c.1454C>A (p.Pro485Gln) c.1262C>A (p.Pro421Gln) | |
| 1 | g.209627415G>A | CA344591018 | LAMB3 | c.1453C>T (p.Pro485Ser) c.1261C>T (p.Pro421Ser) | |
| 1 | g.209627415G>C | CA344591016 | LAMB3 | c.1453C>G (p.Pro485Ala) c.1261C>G (p.Pro421Ala) | |
| 1 | g.209627415G= | CA2484299914 | LAMB3 | c.1453C= (p.Pro485=) c.1261C= (p.Pro421=) | |
| 1 | g.209627415G>T | CA344591017 | LAMB3 | c.1453C>A (p.Pro485Thr) c.1261C>A (p.Pro421Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627416G>A | CA423031511 | LAMB3 | c.1452C>T (p.Asp484=) c.1260C>T (p.Asp420=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627416G>C | CA344591019 | LAMB3 | c.1452C>G (p.Asp484Glu) c.1260C>G (p.Asp420Glu) | |
| 1 | g.209627416G= | CA2484299915 | LAMB3 | c.1452C= (p.Asp484=) c.1260C= (p.Asp420=) | |
| 1 | g.209627416G>T | CA344591020 | LAMB3 | c.1452C>A (p.Asp484Glu) c.1260C>A (p.Asp420Glu) | gnomAD v4 |
| 1 | g.209627417T>A | CA344591021 | LAMB3 | c.1451A>T (p.Asp484Val) c.1259A>T (p.Asp420Val) | gnomAD v4 |
| 1 | g.209627417T>C | CA344591022 | LAMB3 | c.1451A>G (p.Asp484Gly) c.1259A>G (p.Asp420Gly) | |
| 1 | g.209627417T>G | CA344591023 | LAMB3 | c.1451A>C (p.Asp484Ala) c.1259A>C (p.Asp420Ala) | |
| 1 | g.209627418C>A | CA36757288 | LAMB3 | c.1450G>T (p.Asp484Tyr) c.1258G>T (p.Asp420Tyr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.209627418C= | CA1143876330 | LAMB3 | c.1450G= (p.Asp484=) c.1258G= (p.Asp420=) | |
| 1 | g.209627418C>G | CA344591024 | LAMB3 | c.1450G>C (p.Asp484His) c.1258G>C (p.Asp420His) | gnomAD v4 |
| 1 | g.209627418C>T | CA1375597 | LAMB3 | c.1450G>A (p.Asp484Asn) c.1258G>A (p.Asp420Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627419G>A | CA1375598 | LAMB3 | c.1449C>T (p.Cys483=) c.1257C>T (p.Cys419=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627419G>C | CA344591025 | LAMB3 | c.1449C>G (p.Cys483Trp) c.1257C>G (p.Cys419Trp) | |
| 1 | g.209627419G= | CA2484299916 | LAMB3 | c.1449C= (p.Cys483=) c.1257C= (p.Cys419=) | |
| 1 | g.209627419G>T | CA344591026 | LAMB3 | c.1449C>A (p.Cys483Ter) c.1257C>A (p.Cys419Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209627420C>A | CA344591027 | LAMB3 | c.1448G>T (p.Cys483Phe) c.1256G>T (p.Cys419Phe) | |
| 1 | g.209627420C= | CA2484299917 | LAMB3 | c.1448G= (p.Cys483=) c.1256G= (p.Cys419=) | |
| 1 | g.209627420C>G | CA344591028 | LAMB3 | c.1448G>C (p.Cys483Ser) c.1256G>C (p.Cys419Ser) | |
| 1 | g.209627420C>T | CA344591029 | LAMB3 | c.1448G>A (p.Cys483Tyr) c.1256G>A (p.Cys419Tyr) | dbSNP gnomAD v2 |
| 1 | g.209627421A>C | CA344591030 | LAMB3 | c.1447T>G (p.Cys483Gly) c.1255T>G (p.Cys419Gly) | |
| 1 | g.209627421A>G | CA344591031 | LAMB3 | c.1447T>C (p.Cys483Arg) c.1255T>C (p.Cys419Arg) | |
| 1 | g.209627421A>T | CA344591032 | LAMB3 | c.1447T>A (p.Cys483Ser) c.1255T>A (p.Cys419Ser) | gnomAD v4 |
| 1 | g.209627422G>A | CA1375599 | LAMB3 | c.1446C>T (p.Ala482=) c.1254C>T (p.Ala418=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627422G>C | CA423031514 | LAMB3 | c.1446C>G (p.Ala482=) c.1254C>G (p.Ala418=) | |
| 1 | g.209627422G= | CA2484299918 | LAMB3 | c.1446C= (p.Ala482=) c.1254C= (p.Ala418=) | |
| 1 | g.209627422G>T | CA423031515 | LAMB3 | c.1446C>A (p.Ala482=) c.1254C>A (p.Ala418=) | |
| 1 | g.209627423G>A | CA344591033 | LAMB3 | c.1445C>T (p.Ala482Val) c.1253C>T (p.Ala418Val) | |
| 1 | g.209627423G>C | CA344591034 | LAMB3 | c.1445C>G (p.Ala482Gly) c.1253C>G (p.Ala418Gly) | |
| 1 | g.209627423G>T | CA344591035 | LAMB3 | c.1445C>A (p.Ala482Asp) c.1253C>A (p.Ala418Asp) | |
| 1 | g.209627424C>A | CA344591038 | LAMB3 | c.1444G>T (p.Ala482Ser) c.1252G>T (p.Ala418Ser) | |
| 1 | g.209627424C>G | CA344591036 | LAMB3 | c.1444G>C (p.Ala482Pro) c.1252G>C (p.Ala418Pro) | |
| 1 | g.209627424C>T | CA344591037 | LAMB3 | c.1444G>A (p.Ala482Thr) c.1252G>A (p.Ala418Thr) | gnomAD v4 |
| 1 | g.209627424_209627429delinsCACACG | CA2484299919 | LAMB3 | c.1439_1444delinsCGTGTG (p.Pro480=) c.1247_1252delinsCGTGTG (p.Pro416=) | |
| 1 | g.209627425A>C | CA344591039 | LAMB3 | c.1443T>G (p.Cys481Trp) c.1251T>G (p.Cys417Trp) | |
| 1 | g.209627425A>G | CA423031517 | LAMB3 | c.1443T>C (p.Cys481=) c.1251T>C (p.Cys417=) | gnomAD v4 |
| 1 | g.209627425A>T | CA344591040 | LAMB3 | c.1443T>A (p.Cys481Ter) c.1251T>A (p.Cys417Ter) | |
| 1 | g.209627425_209627429del | CA257282 | LAMB3 | c.1439_1443del (p.Pro480ArgfsTer?) c.1247_1251del (p.Pro416ArgfsTer?) | ClinVar dbSNP |
| 1 | g.209627426C>A | CA344591041 | LAMB3 | c.1442G>T (p.Cys481Phe) c.1250G>T (p.Cys417Phe) | |
| 1 | g.209627426C>G | CA344591042 | LAMB3 | c.1442G>C (p.Cys481Ser) c.1250G>C (p.Cys417Ser) | |
| 1 | g.209627426C>T | CA344591043 | LAMB3 | c.1442G>A (p.Cys481Tyr) c.1250G>A (p.Cys417Tyr) | |
| 1 | g.209627427A>C | CA344591044 | LAMB3 | c.1441T>G (p.Cys481Gly) c.1249T>G (p.Cys417Gly) | |
| 1 | g.209627427A>G | CA344591045 | LAMB3 | c.1441T>C (p.Cys481Arg) c.1249T>C (p.Cys417Arg) | |
| 1 | g.209627427A>T | CA344591046 | LAMB3 | c.1441T>A (p.Cys481Ser) c.1249T>A (p.Cys417Ser) | |
| 1 | g.209627428C>A | CA423031519 | LAMB3 | c.1440G>T (p.Pro480=) c.1248G>T (p.Pro416=) | |
| 1 | g.209627428C= | CA2484299920 | LAMB3 | c.1440G= (p.Pro480=) c.1248G= (p.Pro416=) | |
| 1 | g.209627428C>G | CA423031520 | LAMB3 | c.1440G>C (p.Pro480=) c.1248G>C (p.Pro416=) | |
| 1 | g.209627428C>T | CA1375600 | LAMB3 | c.1440G>A (p.Pro480=) c.1248G>A (p.Pro416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209627429G>A | CA1375601 | LAMB3 | c.1439C>T (p.Pro480Leu) c.1247C>T (p.Pro416Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627429G>C | CA344591047 | LAMB3 | c.1439C>G (p.Pro480Arg) c.1247C>G (p.Pro416Arg) | |
| 1 | g.209627429G= | CA1140725345 | LAMB3 | c.1439C= (p.Pro480=) c.1247C= (p.Pro416=) | |
| 1 | g.209627429G>T | CA344591048 | LAMB3 | c.1439C>A (p.Pro480Gln) c.1247C>A (p.Pro416Gln) | |
| 1 | g.209627430G>A | CA344591051 | LAMB3 | c.1438C>T (p.Pro480Ser) c.1246C>T (p.Pro416Ser) | gnomAD v4 |
| 1 | g.209627430G>C | CA344591050 | LAMB3 | c.1438C>G (p.Pro480Ala) c.1246C>G (p.Pro416Ala) | |
| 1 | g.209627430G>T | CA344591049 | LAMB3 | c.1438C>A (p.Pro480Thr) c.1246C>A (p.Pro416Thr) | |
| 1 | g.209627431T>A | CA344591052 | LAMB3 | c.1437A>T (p.Glu479Asp) c.1245A>T (p.Glu415Asp) | |
| 1 | g.209627431T>C | CA423031524 | LAMB3 | c.1437A>G (p.Glu479=) c.1245A>G (p.Glu415=) | |
| 1 | g.209627431T>G | CA344591053 | LAMB3 | c.1437A>C (p.Glu479Asp) c.1245A>C (p.Glu415Asp) | |
| 1 | g.209627432T>A | CA344591054 | LAMB3 | c.1436A>T (p.Glu479Val) c.1244A>T (p.Glu415Val) | |
| 1 | g.209627432T>C | CA344591055 | LAMB3 | c.1436A>G (p.Glu479Gly) c.1244A>G (p.Glu415Gly) | |
| 1 | g.209627432T>G | CA344591056 | LAMB3 | c.1436A>C (p.Glu479Ala) c.1244A>C (p.Glu415Ala) | |
| 1 | g.209627433C>A | CA344591057 | LAMB3 | c.1435G>T (p.Glu479Ter) c.1243G>T (p.Glu415Ter) | ClinVar |
| 1 | g.209627433C>G | CA344591058 | LAMB3 | c.1435G>C (p.Glu479Gln) c.1243G>C (p.Glu415Gln) | |
| 1 | g.209627433C>T | CA344591059 | LAMB3 | c.1435G>A (p.Glu479Lys) c.1243G>A (p.Glu415Lys) | gnomAD v4 |
| 1 | g.209627434A>C | CA344591060 | LAMB3 | c.1434T>G (p.Cys478Trp) c.1242T>G (p.Cys414Trp) | |
| 1 | g.209627434A>G | CA423031526 | LAMB3 | c.1434T>C (p.Cys478=) c.1242T>C (p.Cys414=) | gnomAD v4 |
| 1 | g.209627434A>T | CA344591061 | LAMB3 | c.1434T>A (p.Cys478Ter) c.1242T>A (p.Cys414Ter) | |
| 1 | g.209627435C>A | CA344591062 | LAMB3 | c.1433G>T (p.Cys478Phe) c.1241G>T (p.Cys414Phe) | |
| 1 | g.209627435C= | CA1148731055 | LAMB3 | c.1433G= (p.Cys478=) c.1241G= (p.Cys414=) | |
| 1 | g.209627435C>G | CA344591063 | LAMB3 | c.1433G>C (p.Cys478Ser) c.1241G>C (p.Cys414Ser) | |
| 1 | g.209627435C>T | CA1375602 | LAMB3 | c.1433G>A (p.Cys478Tyr) c.1241G>A (p.Cys414Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627436A>C | CA344591066 | LAMB3 | c.1432T>G (p.Cys478Gly) c.1240T>G (p.Cys414Gly) | gnomAD v4 |
| 1 | g.209627436A>G | CA344591065 | LAMB3 | c.1432T>C (p.Cys478Arg) c.1240T>C (p.Cys414Arg) | |
| 1 | g.209627436A>T | CA344591064 | LAMB3 | c.1432T>A (p.Cys478Ser) c.1240T>A (p.Cys414Ser) | |
| 1 | g.209627437G>A | CA1375603 | LAMB3 | c.1431C>T (p.Gly477=) c.1239C>T (p.Gly413=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627437G>C | CA423031528 | LAMB3 | c.1431C>G (p.Gly477=) c.1239C>G (p.Gly413=) | |
| 1 | g.209627437G= | CA1144131171 | LAMB3 | c.1431C= (p.Gly477=) c.1239C= (p.Gly413=) | |
| 1 | g.209627437G>T | CA423031529 | LAMB3 | c.1431C>A (p.Gly477=) c.1239C>A (p.Gly413=) | |
| 1 | g.209627438C>A | CA344591067 | LAMB3 | c.1430G>T (p.Gly477Val) c.1238G>T (p.Gly413Val) | |
| 1 | g.209627438C>G | CA344591068 | LAMB3 | c.1430G>C (p.Gly477Ala) c.1238G>C (p.Gly413Ala) | |
| 1 | g.209627438C>T | CA344591069 | LAMB3 | c.1430G>A (p.Gly477Asp) c.1238G>A (p.Gly413Asp) | |
| 1 | g.209627439C>A | CA344591070 | LAMB3 | c.1429G>T (p.Gly477Cys) c.1237G>T (p.Gly413Cys) | |
| 1 | g.209627439C= | CA1144041328 | LAMB3 | c.1429G= (p.Gly477=) c.1237G= (p.Gly413=) | |
| 1 | g.209627439C>G | CA344591071 | LAMB3 | c.1429G>C (p.Gly477Arg) c.1237G>C (p.Gly413Arg) | |
| 1 | g.209627439C>T | CA1375604 | LAMB3 | c.1429G>A (p.Gly477Ser) c.1237G>A (p.Gly413Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627440C>A | CA344591073 | LAMB3 | c.1428G>T (p.Gln476His) c.1236G>T (p.Gln412His) | |
| 1 | g.209627440C>G | CA344591072 | LAMB3 | c.1428G>C (p.Gln476His) c.1236G>C (p.Gln412His) | |
| 1 | g.209627440C>T | CA423031531 | LAMB3 | c.1428G>A (p.Gln476=) c.1236G>A (p.Gln412=) | |
| 1 | g.209627441T>A | CA344591074 | LAMB3 | c.1427A>T (p.Gln476Leu) c.1235A>T (p.Gln412Leu) | |
| 1 | g.209627441T>C | CA344591075 | LAMB3 | c.1427A>G (p.Gln476Arg) c.1235A>G (p.Gln412Arg) | |
| 1 | g.209627441T>G | CA344591076 | LAMB3 | c.1427A>C (p.Gln476Pro) c.1235A>C (p.Gln412Pro) | |
| 1 | g.209627441dup | CA2499214425 | LAMB3 | c.1427dup (p.Cys478LeufsTer2) c.1235dup (p.Cys414LeufsTer2) | ClinVar dbSNP |
| 1 | g.209627442G>A | CA344591077 | LAMB3 | c.1426C>T (p.Gln476Ter) c.1234C>T (p.Gln412Ter) | ClinVar dbSNP |
| 1 | g.209627442G>C | CA344591078 | LAMB3 | c.1426C>G (p.Gln476Glu) c.1234C>G (p.Gln412Glu) | |
| 1 | g.209627442G= | CA2484299921 | LAMB3 | c.1426C= (p.Gln476=) c.1234C= (p.Gln412=) | |
| 1 | g.209627442G>T | CA344591079 | LAMB3 | c.1426C>A (p.Gln476Lys) c.1234C>A (p.Gln412Lys) | |
| 1 | g.209627443G>A | CA423031535 | LAMB3 | c.1425C>T (p.Gly475=) c.1233C>T (p.Gly411=) | |
| 1 | g.209627443G>C | CA423031533 | LAMB3 | c.1425C>G (p.Gly475=) c.1233C>G (p.Gly411=) | |
| 1 | g.209627443G>T | CA423031534 | LAMB3 | c.1425C>A (p.Gly475=) c.1233C>A (p.Gly411=) | |
| 1 | g.209627444C>A | CA344591080 | LAMB3 | c.1424G>T (p.Gly475Val) c.1232G>T (p.Gly411Val) | |
| 1 | g.209627444C>G | CA344591082 | LAMB3 | c.1424G>C (p.Gly475Ala) c.1232G>C (p.Gly411Ala) | |
| 1 | g.209627444C>T | CA344591081 | LAMB3 | c.1424G>A (p.Gly475Asp) c.1232G>A (p.Gly411Asp) | |
| 1 | g.209627445C>A | CA344591083 | LAMB3 | c.1423G>T (p.Gly475Cys) c.1231G>T (p.Gly411Cys) | |
| 1 | g.209627445C= | CA1142212436 | LAMB3 | c.1423G= (p.Gly475=) c.1231G= (p.Gly411=) | |
| 1 | g.209627445C>G | CA344591084 | LAMB3 | c.1423G>C (p.Gly475Arg) c.1231G>C (p.Gly411Arg) | |
| 1 | g.209627445C>T | CA1375605 | LAMB3 | c.1423G>A (p.Gly475Ser) c.1231G>A (p.Gly411Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627446A= | CA2484299922 | LAMB3 | c.1422T= (p.Ser474=) c.1230T= (p.Ser410=) | |
| 1 | g.209627446A>C | CA344591085 | LAMB3 | c.1422T>G (p.Ser474Arg) c.1230T>G (p.Ser410Arg) | |
| 1 | g.209627446A>G | CA423031537 | LAMB3 | c.1422T>C (p.Ser474=) c.1230T>C (p.Ser410=) | ClinVar |
| 1 | g.209627446A>T | CA344591086 | LAMB3 | c.1422T>A (p.Ser474Arg) c.1230T>A (p.Ser410Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209627447C>A | CA344591087 | LAMB3 | c.1421G>T (p.Ser474Ile) c.1229G>T (p.Ser410Ile) | |
| 1 | g.209627447C>G | CA344591088 | LAMB3 | c.1421G>C (p.Ser474Thr) c.1229G>C (p.Ser410Thr) | |
| 1 | g.209627447C>T | CA344591089 | LAMB3 | c.1421G>A (p.Ser474Asn) c.1229G>A (p.Ser410Asn) | |
| 1 | g.209627448T>A | CA344591090 | LAMB3 | c.1420A>T (p.Ser474Cys) c.1228A>T (p.Ser410Cys) | |
| 1 | g.209627448T>C | CA344591091 | LAMB3 | c.1420A>G (p.Ser474Gly) c.1228A>G (p.Ser410Gly) | |
| 1 | g.209627448T>G | CA344591092 | LAMB3 | c.1420A>C (p.Ser474Arg) c.1228A>C (p.Ser410Arg) | gnomAD v4 |
| 1 | g.209627449G>A | CA423031541 | LAMB3 | c.1419C>T (p.Ala473=) c.1227C>T (p.Ala409=) | |
| 1 | g.209627449G>C | CA423031542 | LAMB3 | c.1419C>G (p.Ala473=) c.1227C>G (p.Ala409=) | |
| 1 | g.209627449G>T | CA423031543 | LAMB3 | c.1419C>A (p.Ala473=) c.1227C>A (p.Ala409=) | COSMIC |
| 1 | g.209627450G>A | CA344591095 | LAMB3 | c.1418C>T (p.Ala473Val) c.1226C>T (p.Ala409Val) | |
| 1 | g.209627450G>C | CA344591093 | LAMB3 | c.1418C>G (p.Ala473Gly) c.1226C>G (p.Ala409Gly) | |
| 1 | g.209627450G>T | CA344591094 | LAMB3 | c.1418C>A (p.Ala473Asp) c.1226C>A (p.Ala409Asp) | |
| 1 | g.209627451C>A | CA344591096 | LAMB3 | c.1417G>T (p.Ala473Ser) c.1225G>T (p.Ala409Ser) | |
| 1 | g.209627451C>G | CA344591097 | LAMB3 | c.1417G>C (p.Ala473Pro) c.1225G>C (p.Ala409Pro) | |
| 1 | g.209627451C>T | CA344591098 | LAMB3 | c.1417G>A (p.Ala473Thr) c.1225G>A (p.Ala409Thr) | |
| 1 | g.209627452C>A | CA423031545 | LAMB3 | c.1416G>T (p.Leu472=) c.1224G>T (p.Leu408=) | |
| 1 | g.209627452C= | CA2484299923 | LAMB3 | c.1416G= (p.Leu472=) c.1224G= (p.Leu408=) | |
| 1 | g.209627452C>G | CA423031546 | LAMB3 | c.1416G>C (p.Leu472=) c.1224G>C (p.Leu408=) | dbSNP |
| 1 | g.209627452C>T | CA423031547 | LAMB3 | c.1416G>A (p.Leu472=) c.1224G>A (p.Leu408=) | |
| 1 | g.209627453A>C | CA344591099 | LAMB3 | c.1415T>G (p.Leu472Arg) c.1223T>G (p.Leu408Arg) | |
| 1 | g.209627453A>G | CA344591100 | LAMB3 | c.1415T>C (p.Leu472Pro) c.1223T>C (p.Leu408Pro) | |
| 1 | g.209627453A>T | CA344591101 | LAMB3 | c.1415T>A (p.Leu472Gln) c.1223T>A (p.Leu408Gln) | |
| 1 | g.209627454G>A | CA423031549 | LAMB3 | c.1414C>T (p.Leu472=) c.1222C>T (p.Leu408=) | |
| 1 | g.209627454G>C | CA344591103 | LAMB3 | c.1414C>G (p.Leu472Val) c.1222C>G (p.Leu408Val) | |
| 1 | g.209627454G>T | CA344591102 | LAMB3 | c.1414C>A (p.Leu472Met) c.1222C>A (p.Leu408Met) | |
| 1 | g.209627455C>A | CA344591104 | LAMB3 | c.1413G>T (p.Lys471Asn) c.1221G>T (p.Lys407Asn) | |
| 1 | g.209627455C= | CA1141262565 | LAMB3 | c.1413G= (p.Lys471=) c.1221G= (p.Lys407=) | |
| 1 | g.209627455C>G | CA344591105 | LAMB3 | c.1413G>C (p.Lys471Asn) c.1221G>C (p.Lys407Asn) | |
| 1 | g.209627455C>T | CA1375606 | LAMB3 | c.1413G>A (p.Lys471=) c.1221G>A (p.Lys407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627456T>A | CA344591106 | LAMB3 | c.1412A>T (p.Lys471Met) c.1220A>T (p.Lys407Met) | |
| 1 | g.209627456T>C | CA344591107 | LAMB3 | c.1412A>G (p.Lys471Arg) c.1220A>G (p.Lys407Arg) | |
| 1 | g.209627456T>G | CA344591108 | LAMB3 | c.1412A>C (p.Lys471Thr) c.1220A>C (p.Lys407Thr) | |
| 1 | g.209627457T>A | CA344591109 | LAMB3 | c.1411A>T (p.Lys471Ter) c.1219A>T (p.Lys407Ter) | |
| 1 | g.209627457T>C | CA344591111 | LAMB3 | c.1411A>G (p.Lys471Glu) c.1219A>G (p.Lys407Glu) | |
| 1 | g.209627457T>G | CA344591110 | LAMB3 | c.1411A>C (p.Lys471Gln) c.1219A>C (p.Lys407Gln) | |
| 1 | g.209627458C>A | CA344591112 | LAMB3 | c.1410G>T (p.Trp470Cys) c.1218G>T (p.Trp406Cys) | |
| 1 | g.209627458C>G | CA344591113 | LAMB3 | c.1410G>C (p.Trp470Cys) c.1218G>C (p.Trp406Cys) | gnomAD v4 |
| 1 | g.209627458C>T | CA344591114 | LAMB3 | c.1410G>A (p.Trp470Ter) c.1218G>A (p.Trp406Ter) | ClinVar |
| 1 | g.209627459C>A | CA344591115 | LAMB3 | c.1409G>T (p.Trp470Leu) c.1217G>T (p.Trp406Leu) | |
| 1 | g.209627459C>G | CA344591116 | LAMB3 | c.1409G>C (p.Trp470Ser) c.1217G>C (p.Trp406Ser) | |
| 1 | g.209627459C>T | CA344591117 | LAMB3 | c.1409G>A (p.Trp470Ter) c.1217G>A (p.Trp406Ter) | |
| 1 | g.209627460A>C | CA344591118 | LAMB3 | c.1408T>G (p.Trp470Gly) c.1216T>G (p.Trp406Gly) | |
| 1 | g.209627460A>G | CA344591119 | LAMB3 | c.1408T>C (p.Trp470Arg) c.1216T>C (p.Trp406Arg) | |
| 1 | g.209627460A>T | CA344591120 | LAMB3 | c.1408T>A (p.Trp470Arg) c.1216T>A (p.Trp406Arg) | |
| 1 | g.209627461G>A | CA423031563 | LAMB3 | c.1407C>T (p.His469=) c.1215C>T (p.His405=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209627461G>C | CA344591121 | LAMB3 | c.1407C>G (p.His469Gln) c.1215C>G (p.His405Gln) | gnomAD v4 |
| 1 | g.209627461G= | CA2484299924 | LAMB3 | c.1407C= (p.His469=) c.1215C= (p.His405=) | |
| 1 | g.209627461G>T | CA344591122 | LAMB3 | c.1407C>A (p.His469Gln) c.1215C>A (p.His405Gln) | |
| 1 | g.209627462T>A | CA344591123 | LAMB3 | c.1406A>T (p.His469Leu) c.1214A>T (p.His405Leu) | |
| 1 | g.209627462T>C | CA344591125 | LAMB3 | c.1406A>G (p.His469Arg) c.1214A>G (p.His405Arg) | gnomAD v4 |
| 1 | g.209627462T>G | CA344591124 | LAMB3 | c.1406A>C (p.His469Pro) c.1214A>C (p.His405Pro) | |
| 1 | g.209627463G>A | CA344591126 | LAMB3 | c.1405C>T (p.His469Tyr) c.1213C>T (p.His405Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627463G>C | CA344591128 | LAMB3 | c.1405C>G (p.His469Asp) c.1213C>G (p.His405Asp) | |
| 1 | g.209627463G= | CA2484299925 | LAMB3 | c.1405C= (p.His469=) c.1213C= (p.His405=) | |
| 1 | g.209627463G>T | CA344591127 | LAMB3 | c.1405C>A (p.His469Asn) c.1213C>A (p.His405Asn) | gnomAD v4 |
| 1 | g.209627464G>A | CA423031565 | LAMB3 | c.1404C>T (p.Tyr468=) c.1212C>T (p.Tyr404=) | |
| 1 | g.209627464G>C | CA344591129 | LAMB3 | c.1404C>G (p.Tyr468Ter) c.1212C>G (p.Tyr404Ter) | |
| 1 | g.209627464G>T | CA344591130 | LAMB3 | c.1404C>A (p.Tyr468Ter) c.1212C>A (p.Tyr404Ter) | |
| 1 | g.209627465T>A | CA344591131 | LAMB3 | c.1403A>T (p.Tyr468Phe) c.1211A>T (p.Tyr404Phe) | |
| 1 | g.209627465T>C | CA344591132 | LAMB3 | c.1403A>G (p.Tyr468Cys) c.1211A>G (p.Tyr404Cys) | |
| 1 | g.209627465T>G | CA344591133 | LAMB3 | c.1403A>C (p.Tyr468Ser) c.1211A>C (p.Tyr404Ser) | dbSNP gnomAD v4 |
| 1 | g.209627465T= | CA2484299926 | LAMB3 | c.1403A= (p.Tyr468=) c.1211A= (p.Tyr404=) | |
| 1 | g.209627466A>C | CA344591136 | LAMB3 | c.1402T>G (p.Tyr468Asp) c.1210T>G (p.Tyr404Asp) | |
| 1 | g.209627466A>G | CA344591135 | LAMB3 | c.1402T>C (p.Tyr468His) c.1210T>C (p.Tyr404His) | |
| 1 | g.209627466A>T | CA344591134 | LAMB3 | c.1402T>A (p.Tyr468Asn) c.1210T>A (p.Tyr404Asn) | |
| 1 | g.209627467G>A | CA423031572 | LAMB3 | c.1401C>T (p.Pro467=) c.1209C>T (p.Pro403=) | |
| 1 | g.209627467G>C | CA423031574 | LAMB3 | c.1401C>G (p.Pro467=) c.1209C>G (p.Pro403=) | |
| 1 | g.209627467G>T | CA423031570 | LAMB3 | c.1401C>A (p.Pro467=) c.1209C>A (p.Pro403=) | |
| 1 | g.209627468G>A | CA344591137 | LAMB3 | c.1400C>T (p.Pro467Leu) c.1208C>T (p.Pro403Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627468G>C | CA36757316 | LAMB3 | c.1400C>G (p.Pro467Arg) c.1208C>G (p.Pro403Arg) | dbSNP |
| 1 | g.209627468G= | CA2484299927 | LAMB3 | c.1400C= (p.Pro467=) c.1208C= (p.Pro403=) | |
| 1 | g.209627468G>T | CA344591138 | LAMB3 | c.1400C>A (p.Pro467His) c.1208C>A (p.Pro403His) | |
| 1 | g.209627469G>A | CA1375607 | LAMB3 | c.1399C>T (p.Pro467Ser) c.1207C>T (p.Pro403Ser) | dbSNP ExAC gnomAD v2 |
| 1 | g.209627469G>C | CA344591139 | LAMB3 | c.1399C>G (p.Pro467Ala) c.1207C>G (p.Pro403Ala) | |
| 1 | g.209627469G= | CA2484299928 | LAMB3 | c.1399C= (p.Pro467=) c.1207C= (p.Pro403=) | |
| 1 | g.209627469G>T | CA344591140 | LAMB3 | c.1399C>A (p.Pro467Thr) c.1207C>A (p.Pro403Thr) | |
| 1 | g.209627470del | CA2650322605 | LAMB3 | c.1398del (p.Tyr468ThrfsTer?) c.1206del (p.Tyr404ThrfsTer?) | gnomAD v4 |
| 1 | g.209627470A= | CA2484299929 | LAMB3 | c.1398T= (p.Ala466=) c.1206T= (p.Ala402=) | |
| 1 | g.209627470A>C | CA423031583 | LAMB3 | c.1398T>G (p.Ala466=) c.1206T>G (p.Ala402=) | |
| 1 | g.209627470A>G | CA423031581 | LAMB3 | c.1398T>C (p.Ala466=) c.1206T>C (p.Ala402=) | ClinVar dbSNP |
| 1 | g.209627470A>T | CA423031582 | LAMB3 | c.1398T>A (p.Ala466=) c.1206T>A (p.Ala402=) | |
| 1 | g.209627471G>A | CA344591141 | LAMB3 | c.1397C>T (p.Ala466Val) c.1205C>T (p.Ala402Val) | |
| 1 | g.209627471G>C | CA344591143 | LAMB3 | c.1397C>G (p.Ala466Gly) c.1205C>G (p.Ala402Gly) | |
| 1 | g.209627471G>T | CA344591142 | LAMB3 | c.1397C>A (p.Ala466Asp) c.1205C>A (p.Ala402Asp) | |
| 1 | g.209627472C>A | CA344591144 | LAMB3 | c.1396G>T (p.Ala466Ser) c.1204G>T (p.Ala402Ser) | |
| 1 | g.209627472C>G | CA344591145 | LAMB3 | c.1396G>C (p.Ala466Pro) c.1204G>C (p.Ala402Pro) | |
| 1 | g.209627472C>T | CA344591146 | LAMB3 | c.1396G>A (p.Ala466Thr) c.1204G>A (p.Ala402Thr) | |
| 1 | g.209627473A>C | CA344591147 | LAMB3 | c.1395T>G (p.Cys465Trp) c.1203T>G (p.Cys401Trp) | |
| 1 | g.209627473A>G | CA423031585 | LAMB3 | c.1395T>C (p.Cys465=) c.1203T>C (p.Cys401=) | |
| 1 | g.209627473A>T | CA344591148 | LAMB3 | c.1395T>A (p.Cys465Ter) c.1203T>A (p.Cys401Ter) | |
| 1 | g.209627474C>A | CA344591149 | LAMB3 | c.1394G>T (p.Cys465Phe) c.1202G>T (p.Cys401Phe) | |
| 1 | g.209627474C>G | CA344591150 | LAMB3 | c.1394G>C (p.Cys465Ser) c.1202G>C (p.Cys401Ser) | |
| 1 | g.209627474C>T | CA344591151 | LAMB3 | c.1394G>A (p.Cys465Tyr) c.1202G>A (p.Cys401Tyr) | |
| 1 | g.209627475A>C | CA344591152 | LAMB3 | c.1393T>G (p.Cys465Gly) c.1201T>G (p.Cys401Gly) | |
| 1 | g.209627475A>G | CA344591153 | LAMB3 | c.1393T>C (p.Cys465Arg) c.1201T>C (p.Cys401Arg) | COSMIC |
| 1 | g.209627475A>T | CA344591154 | LAMB3 | c.1393T>A (p.Cys465Ser) c.1201T>A (p.Cys401Ser) | |
| 1 | g.209627476C>A | CA344591155 | LAMB3 | c.1392G>T (p.Gln464His) c.1200G>T (p.Gln400His) | |
| 1 | g.209627476C= | CA2484299930 | LAMB3 | c.1392G= (p.Gln464=) c.1200G= (p.Gln400=) | |
| 1 | g.209627476C>G | CA36757322 | LAMB3 | c.1392G>C (p.Gln464His) c.1200G>C (p.Gln400His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627476C>T | CA423031590 | LAMB3 | c.1392G>A (p.Gln464=) c.1200G>A (p.Gln400=) | gnomAD v4 |
| 1 | g.209627477T>A | CA344591156 | LAMB3 | c.1391A>T (p.Gln464Leu) c.1199A>T (p.Gln400Leu) | |
| 1 | g.209627477T>C | CA344591157 | LAMB3 | c.1391A>G (p.Gln464Arg) c.1199A>G (p.Gln400Arg) | |
| 1 | g.209627477T>G | CA344591158 | LAMB3 | c.1391A>C (p.Gln464Pro) c.1199A>C (p.Gln400Pro) | |
| 1 | g.209627477_209627478delinsTG | CA2484299931 | LAMB3 | c.1390_1391delinsCA (p.Gln464=) c.1198_1199delinsCA (p.Gln400=) | |
| 1 | g.209627478G>A | CA344591159 | LAMB3 | c.1390C>T (p.Gln464Ter) c.1198C>T (p.Gln400Ter) | |
| 1 | g.209627478G>C | CA344591160 | LAMB3 | c.1390C>G (p.Gln464Glu) c.1198C>G (p.Gln400Glu) | |
| 1 | g.209627478G>T | CA344591161 | LAMB3 | c.1390C>A (p.Gln464Lys) c.1198C>A (p.Gln400Lys) | |
| 1 | g.209627479del | CA529000263 | LAMB3 | c.1390del (p.Gln464SerfsTer?) c.1198del (p.Gln400SerfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627479G>A | CA423031591 | LAMB3 | c.1389C>T (p.Asp463=) c.1197C>T (p.Asp399=) | ClinVar |
| 1 | g.209627479G>C | CA344591162 | LAMB3 | c.1389C>G (p.Asp463Glu) c.1197C>G (p.Asp399Glu) | |
| 1 | g.209627479G>T | CA344591163 | LAMB3 | c.1389C>A (p.Asp463Glu) c.1197C>A (p.Asp399Glu) | gnomAD v4 |
| 1 | g.209627480T>A | CA344591164 | LAMB3 | c.1388A>T (p.Asp463Val) c.1196A>T (p.Asp399Val) | |
| 1 | g.209627480T>C | CA344591165 | LAMB3 | c.1388A>G (p.Asp463Gly) c.1196A>G (p.Asp399Gly) | |
| 1 | g.209627480T>G | CA344591166 | LAMB3 | c.1388A>C (p.Asp463Ala) c.1196A>C (p.Asp399Ala) | dbSNP |
| 1 | g.209627480T= | CA2484299933 | LAMB3 | c.1388A= (p.Asp463=) c.1196A= (p.Asp399=) | |
| 1 | g.209627480_209627481delinsTC | CA2484299932 | LAMB3 | c.1387_1388delinsGA (p.Asp463=) c.1195_1196delinsGA (p.Asp399=) | |
| 1 | g.209627481del | CA1375608 | LAMB3 | c.1387del (p.Asp463ThrfsTer?) c.1195del (p.Asp399ThrfsTer?) | dbSNP ExAC gnomAD v2 |
| 1 | g.209627481C>A | CA344591168 | LAMB3 | c.1387G>T (p.Asp463Tyr) c.1195G>T (p.Asp399Tyr) | |
| 1 | g.209627481C= | CA1149040572 | LAMB3 | c.1387G= (p.Asp463=) c.1195G= (p.Asp399=) | |
| 1 | g.209627481C>G | CA344591169 | LAMB3 | c.1387G>C (p.Asp463His) c.1195G>C (p.Asp399His) | |
| 1 | g.209627481C>T | CA344591167 | LAMB3 | c.1387G>A (p.Asp463Asn) c.1195G>A (p.Asp399Asn) | |
| 1 | g.209627482A>C | CA344591170 | LAMB3 | c.1386T>G (p.Cys462Trp) c.1194T>G (p.Cys398Trp) | |
| 1 | g.209627482A>G | CA423031594 | LAMB3 | c.1386T>C (p.Cys462=) c.1194T>C (p.Cys398=) | |
| 1 | g.209627482A>T | CA344591171 | LAMB3 | c.1386T>A (p.Cys462Ter) c.1194T>A (p.Cys398Ter) | |
| 1 | g.209627483C>A | CA344591172 | LAMB3 | c.1385G>T (p.Cys462Phe) c.1193G>T (p.Cys398Phe) | |
| 1 | g.209627483C>G | CA344591173 | LAMB3 | c.1385G>C (p.Cys462Ser) c.1193G>C (p.Cys398Ser) | |
| 1 | g.209627483C>T | CA344591174 | LAMB3 | c.1385G>A (p.Cys462Tyr) c.1193G>A (p.Cys398Tyr) | |
| 1 | g.209627484A>C | CA344591177 | LAMB3 | c.1384T>G (p.Cys462Gly) c.1192T>G (p.Cys398Gly) | |
| 1 | g.209627484A>G | CA344591175 | LAMB3 | c.1384T>C (p.Cys462Arg) c.1192T>C (p.Cys398Arg) | |
| 1 | g.209627484A>T | CA344591176 | LAMB3 | c.1384T>A (p.Cys462Ser) c.1192T>A (p.Cys398Ser) | |
| 1 | g.209627485T>A | CA344591178 | LAMB3 | c.1383A>T (p.Lys461Asn) c.1191A>T (p.Lys397Asn) | |
| 1 | g.209627485T>C | CA423031596 | LAMB3 | c.1383A>G (p.Lys461=) c.1191A>G (p.Lys397=) | gnomAD v4 |
| 1 | g.209627485T>G | CA344591179 | LAMB3 | c.1383A>C (p.Lys461Asn) c.1191A>C (p.Lys397Asn) | |
| 1 | g.209627486T>A | CA344591180 | LAMB3 | c.1382A>T (p.Lys461Ile) c.1190A>T (p.Lys397Ile) | |
| 1 | g.209627486T>C | CA344591181 | LAMB3 | c.1382A>G (p.Lys461Arg) c.1190A>G (p.Lys397Arg) | |
| 1 | g.209627486T>G | CA344591182 | LAMB3 | c.1382A>C (p.Lys461Thr) c.1190A>C (p.Lys397Thr) | |
| 1 | g.209627487T>A | CA344591183 | LAMB3 | c.1381A>T (p.Lys461Ter) c.1189A>T (p.Lys397Ter) | |
| 1 | g.209627487T>C | CA344591185 | LAMB3 | c.1381A>G (p.Lys461Glu) c.1189A>G (p.Lys397Glu) | |
| 1 | g.209627487T>G | CA344591184 | LAMB3 | c.1381A>C (p.Lys461Gln) c.1189A>C (p.Lys397Gln) | |
| 1 | g.209627487_209627488insTTTTTTAATGATAC | CA2650322618 | LAMB3 | c.1380_1381insGTATCATTAAAAAA (p.Lys461ValfsTer?) c.1188_1189insGTATCATTAAAAAA (p.Lys397ValfsTer?) | gnomAD v4 |
| 1 | g.209627488G>A | CA423031603 | LAMB3 | c.1380C>T (p.Pro460=) c.1188C>T (p.Pro396=) | |
| 1 | g.209627488G>C | CA423031605 | LAMB3 | c.1380C>G (p.Pro460=) c.1188C>G (p.Pro396=) | gnomAD v4 |
| 1 | g.209627488G>T | CA423031602 | LAMB3 | c.1380C>A (p.Pro460=) c.1188C>A (p.Pro396=) | |
| 1 | g.209627489G>A | CA344591186 | LAMB3 | c.1379C>T (p.Pro460Leu) c.1187C>T (p.Pro396Leu) | |
| 1 | g.209627489G>C | CA344591187 | LAMB3 | c.1379C>G (p.Pro460Arg) c.1187C>G (p.Pro396Arg) | |
| 1 | g.209627489G= | CA2484299934 | LAMB3 | c.1379C= (p.Pro460=) c.1187C= (p.Pro396=) | |
| 1 | g.209627489G>T | CA344591188 | LAMB3 | c.1379C>A (p.Pro460His) c.1187C>A (p.Pro396His) | dbSNP |
| 1 | g.209627489_209627490insC | CA2650322619 | LAMB3 | c.1378_1379insG (p.Pro460ArgfsTer4) c.1186_1187insG (p.Pro396ArgfsTer4) | gnomAD v4 |
| 1 | g.209627490G>A | CA344591189 | LAMB3 | c.1378C>T (p.Pro460Ser) c.1186C>T (p.Pro396Ser) | dbSNP |
| 1 | g.209627490G>C | CA344591190 | LAMB3 | c.1378C>G (p.Pro460Ala) c.1186C>G (p.Pro396Ala) | |
| 1 | g.209627490G>T | CA344591191 | LAMB3 | c.1378C>A (p.Pro460Thr) c.1186C>A (p.Pro396Thr) | |
| 1 | g.209627491A>C | CA423031611 | LAMB3 | c.1377T>G (p.Gly459=) c.1185T>G (p.Gly395=) | |
| 1 | g.209627491A>G | CA423031610 | LAMB3 | c.1377T>C (p.Gly459=) c.1185T>C (p.Gly395=) | ClinVar |
| 1 | g.209627491A>T | CA423031609 | LAMB3 | c.1377T>A (p.Gly459=) c.1185T>A (p.Gly395=) | gnomAD v4 |
| 1 | g.209627492C>A | CA344591194 | LAMB3 | c.1376G>T (p.Gly459Val) c.1184G>T (p.Gly395Val) | |
| 1 | g.209627492C= | CA2484299935 | LAMB3 | c.1376G= (p.Gly459=) c.1184G= (p.Gly395=) | |
| 1 | g.209627492C>G | CA344591193 | LAMB3 | c.1376G>C (p.Gly459Ala) c.1184G>C (p.Gly395Ala) | |
| 1 | g.209627492C>T | CA344591192 | LAMB3 | c.1376G>A (p.Gly459Asp) c.1184G>A (p.Gly395Asp) | dbSNP |
| 1 | g.209627494del | CA2650322621 | LAMB3 | c.1376del (p.Gly459ValfsTer?) c.1184del (p.Gly395ValfsTer?) | gnomAD v4 |
| 1 | g.209627493C>A | CA344591195 | LAMB3 | c.1375G>T (p.Gly459Cys) c.1183G>T (p.Gly395Cys) | |
| 1 | g.209627493C>G | CA344591196 | LAMB3 | c.1375G>C (p.Gly459Arg) c.1183G>C (p.Gly395Arg) | |
| 1 | g.209627493C>T | CA344591197 | LAMB3 | c.1375G>A (p.Gly459Ser) c.1183G>A (p.Gly395Ser) | gnomAD v4 |
| 1 | g.209627494C>A | CA423031613 | LAMB3 | c.1374G>T (p.Val458=) c.1182G>T (p.Val394=) | |
| 1 | g.209627494C>G | CA423031615 | LAMB3 | c.1374G>C (p.Val458=) c.1182G>C (p.Val394=) | |
| 1 | g.209627494C>T | CA423031614 | LAMB3 | c.1374G>A (p.Val458=) c.1182G>A (p.Val394=) | gnomAD v4 |
| 1 | g.209627495A= | CA1143490995 | LAMB3 | c.1373T= (p.Val458=) c.1181T= (p.Val394=) | |
| 1 | g.209627495A>C | CA344591198 | LAMB3 | c.1373T>G (p.Val458Gly) c.1181T>G (p.Val394Gly) | |
| 1 | g.209627495A>G | CA36757330 | LAMB3 | c.1373T>C (p.Val458Ala) c.1181T>C (p.Val394Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627495A>T | CA344591199 | LAMB3 | c.1373T>A (p.Val458Glu) c.1181T>A (p.Val394Glu) | |
| 1 | g.209627496C>A | CA344591200 | LAMB3 | c.1372G>T (p.Val458Leu) c.1180G>T (p.Val394Leu) | |
| 1 | g.209627496C>G | CA344591202 | LAMB3 | c.1372G>C (p.Val458Leu) c.1180G>C (p.Val394Leu) | |
| 1 | g.209627496C>T | CA344591201 | LAMB3 | c.1372G>A (p.Val458Met) c.1180G>A (p.Val394Met) | |
| 1 | g.209627497C>A | CA423031620 | LAMB3 | c.1371G>T (p.Val457=) c.1179G>T (p.Val393=) | |
| 1 | g.209627497C= | CA2484299936 | LAMB3 | c.1371G= (p.Val457=) c.1179G= (p.Val393=) | |
| 1 | g.209627497C>G | CA423031621 | LAMB3 | c.1371G>C (p.Val457=) c.1179G>C (p.Val393=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209627497C>T | CA423031622 | LAMB3 | c.1371G>A (p.Val457=) c.1179G>A (p.Val393=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209627498_209627499del | CA2650322625 | LAMB3 | c.1370_1371del (p.Val457GlyfsTer6) c.1178_1179del (p.Val393GlyfsTer6) | gnomAD v4 |
| 1 | g.209627498A>C | CA344591203 | LAMB3 | c.1370T>G (p.Val457Gly) c.1178T>G (p.Val393Gly) | |
| 1 | g.209627498A>G | CA344591204 | LAMB3 | c.1370T>C (p.Val457Ala) c.1178T>C (p.Val393Ala) | |
| 1 | g.209627498A>T | CA344591205 | LAMB3 | c.1370T>A (p.Val457Glu) c.1178T>A (p.Val393Glu) | |
| 1 | g.209627499C>A | CA344591206 | LAMB3 | c.1369G>T (p.Val457Leu) c.1177G>T (p.Val393Leu) | |
| 1 | g.209627499C= | CA1143707160 | LAMB3 | c.1369G= (p.Val457=) c.1177G= (p.Val393=) | |
| 1 | g.209627499C>G | CA344591207 | LAMB3 | c.1369G>C (p.Val457Leu) c.1177G>C (p.Val393Leu) | |
| 1 | g.209627499C>T | CA1375609 | LAMB3 | c.1369G>A (p.Val457Met) c.1177G>A (p.Val393Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627500G>A | CA423031625 | LAMB3 | c.1368C>T (p.Asn456=) c.1176C>T (p.Asn392=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209627500G>C | CA344591208 | LAMB3 | c.1368C>G (p.Asn456Lys) c.1176C>G (p.Asn392Lys) | gnomAD v4 |
| 1 | g.209627500G= | CA2484299937 | LAMB3 | c.1368C= (p.Asn456=) c.1176C= (p.Asn392=) | |
| 1 | g.209627500G>T | CA344591209 | LAMB3 | c.1368C>A (p.Asn456Lys) c.1176C>A (p.Asn392Lys) | gnomAD v4 |
| 1 | g.209627501T>A | CA344591210 | LAMB3 | c.1367A>T (p.Asn456Ile) c.1175A>T (p.Asn392Ile) | |
| 1 | g.209627501T>C | CA344591211 | LAMB3 | c.1367A>G (p.Asn456Ser) c.1175A>G (p.Asn392Ser) | |
| 1 | g.209627501T>G | CA344591212 | LAMB3 | c.1367A>C (p.Asn456Thr) c.1175A>C (p.Asn392Thr) | |
| 1 | g.209627501_209627503delinsTTG | CA2484299938 | LAMB3 | c.1365_1367delinsCAA (p.Pro455=) c.1173_1175delinsCAA (p.Pro391=) | |
| 1 | g.209627501_209627506del | CA2650322638 | LAMB3 | c.1362_1367del (p.Pro455_Asn456del) c.1170_1175del (p.Pro391_Asn392del) | gnomAD v4 |
| 1 | g.209627502T>A | CA344591213 | LAMB3 | c.1366A>T (p.Asn456Tyr) c.1174A>T (p.Asn392Tyr) | |
| 1 | g.209627502T>C | CA344591214 | LAMB3 | c.1366A>G (p.Asn456Asp) c.1174A>G (p.Asn392Asp) | |
| 1 | g.209627502T>G | CA344591215 | LAMB3 | c.1366A>C (p.Asn456His) c.1174A>C (p.Asn392His) | |
| 1 | g.209627502_209627503del | CA274239 | LAMB3 | c.1365_1366del (p.Asn456ArgfsTer7) c.1173_1174del (p.Asn392ArgfsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627503G>A | CA423031632 | LAMB3 | c.1365C>T (p.Pro455=) c.1173C>T (p.Pro391=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209627503G>C | CA423031633 | LAMB3 | c.1365C>G (p.Pro455=) c.1173C>G (p.Pro391=) | |
| 1 | g.209627503G>T | CA423031634 | LAMB3 | c.1365C>A (p.Pro455=) c.1173C>A (p.Pro391=) | |
| 1 | g.209627505del | CA645532778 | LAMB3 | c.1365del (p.Asn456ThrfsTer?) c.1173del (p.Asn392ThrfsTer?) | COSMIC |
| 1 | g.209627504G>A | CA344591216 | LAMB3 | c.1364C>T (p.Pro455Leu) c.1172C>T (p.Pro391Leu) | |
| 1 | g.209627504G>C | CA344591217 | LAMB3 | c.1364C>G (p.Pro455Arg) c.1172C>G (p.Pro391Arg) | gnomAD v4 |
| 1 | g.209627504G= | CA2484299939 | LAMB3 | c.1364C= (p.Pro455=) c.1172C= (p.Pro391=) | |
| 1 | g.209627504G>T | CA344591218 | LAMB3 | c.1364C>A (p.Pro455His) c.1172C>A (p.Pro391His) | dbSNP gnomAD v4 |
| 1 | g.209627505G>A | CA344591219 | LAMB3 | c.1363C>T (p.Pro455Ser) c.1171C>T (p.Pro391Ser) | |
| 1 | g.209627505G>C | CA344591220 | LAMB3 | c.1363C>G (p.Pro455Ala) c.1171C>G (p.Pro391Ala) | |
| 1 | g.209627505G>T | CA344591221 | LAMB3 | c.1363C>A (p.Pro455Thr) c.1171C>A (p.Pro391Thr) | |
| 1 | g.209627506C>A | CA423031638 | LAMB3 | c.1362G>T (p.Leu454=) c.1170G>T (p.Leu390=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627506C= | CA2484299940 | LAMB3 | c.1362G= (p.Leu454=) c.1170G= (p.Leu390=) | |
| 1 | g.209627506C>G | CA423031640 | LAMB3 | c.1362G>C (p.Leu454=) c.1170G>C (p.Leu390=) | |
| 1 | g.209627506C>T | CA423031641 | LAMB3 | c.1362G>A (p.Leu454=) c.1170G>A (p.Leu390=) | gnomAD v4 |
| 1 | g.209627507A= | CA2484299941 | LAMB3 | c.1361T= (p.Leu454=) c.1169T= (p.Leu390=) | |
| 1 | g.209627507A>C | CA344591222 | LAMB3 | c.1361T>G (p.Leu454Arg) c.1169T>G (p.Leu390Arg) | |
| 1 | g.209627507A>G | CA344591223 | LAMB3 | c.1361T>C (p.Leu454Pro) c.1169T>C (p.Leu390Pro) | |
| 1 | g.209627507A>T | CA344591224 | LAMB3 | c.1361T>A (p.Leu454Gln) c.1169T>A (p.Leu390Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627508G>A | CA423031645 | LAMB3 | c.1360C>T (p.Leu454=) c.1168C>T (p.Leu390=) | |
| 1 | g.209627508G>C | CA344591225 | LAMB3 | c.1360C>G (p.Leu454Val) c.1168C>G (p.Leu390Val) | |
| 1 | g.209627508G= | CA2484299942 | LAMB3 | c.1360C= (p.Leu454=) c.1168C= (p.Leu390=) | |
| 1 | g.209627508G>T | CA344591226 | LAMB3 | c.1360C>A (p.Leu454Met) c.1168C>A (p.Leu390Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627509A>C | CA344591228 | LAMB3 | c.1359T>G (p.Cys453Trp) c.1167T>G (p.Cys389Trp) | |
| 1 | g.209627509A>G | CA423031647 | LAMB3 | c.1359T>C (p.Cys453=) c.1167T>C (p.Cys389=) | |
| 1 | g.209627509A>T | CA344591227 | LAMB3 | c.1359T>A (p.Cys453Ter) c.1167T>A (p.Cys389Ter) | |
| 1 | g.209627509_209627510insT | CA2650322658 | LAMB3 | c.1358_1359insA (p.Cys453Ter) c.1166_1167insA (p.Cys389Ter) | gnomAD v4 |
| 1 | g.209627510C>A | CA344591229 | LAMB3 | c.1358G>T (p.Cys453Phe) c.1166G>T (p.Cys389Phe) | |
| 1 | g.209627510C>G | CA344591230 | LAMB3 | c.1358G>C (p.Cys453Ser) c.1166G>C (p.Cys389Ser) | |
| 1 | g.209627510C>T | CA344591231 | LAMB3 | c.1358G>A (p.Cys453Tyr) c.1166G>A (p.Cys389Tyr) | |
| 1 | g.209627511A= | CA2484299943 | LAMB3 | c.1357T= (p.Cys453=) c.1165T= (p.Cys389=) | |
| 1 | g.209627511A>C | CA1375610 | LAMB3 | c.1357T>G (p.Cys453Gly) c.1165T>G (p.Cys389Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627511A>G | CA344591232 | LAMB3 | c.1357T>C (p.Cys453Arg) c.1165T>C (p.Cys389Arg) | |
| 1 | g.209627511A>T | CA344591233 | LAMB3 | c.1357T>A (p.Cys453Ser) c.1165T>A (p.Cys389Ser) | gnomAD v4 |
| 1 | g.209627513del | CA2697554892 | LAMB3 | c.1357del (p.Cys453ValfsTer?) c.1165del (p.Cys389ValfsTer?) | ClinVar |
| 1 | g.209627512A>C | CA423031653 | LAMB3 | c.1356T>G (p.Leu452=) c.1164T>G (p.Leu388=) | |
| 1 | g.209627512A>G | CA423031652 | LAMB3 | c.1356T>C (p.Leu452=) c.1164T>C (p.Leu388=) | |
| 1 | g.209627512A>T | CA423031651 | LAMB3 | c.1356T>A (p.Leu452=) c.1164T>A (p.Leu388=) |