| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.49123217T>A | CA352695975 | LAMB2 | c.4139A>T (p.Asn1380Ile) n.369A>T | |
| 3 | g.49123217T>C | CA2393864 | LAMB2 | c.4139A>G (p.Asn1380Ser) n.369A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123217T>G | CA352695977 | LAMB2 | c.4139A>C (p.Asn1380Thr) n.369A>C | |
| 3 | g.49123217T= | CA1363340076 | LAMB2 | c.4139A= (p.Asn1380=) n.369A= | |
| 3 | g.49123218T>A | CA352695979 | LAMB2 | c.4138A>T (p.Asn1380Tyr) n.368A>T | |
| 3 | g.49123218T>C | CA352695980 | LAMB2 | c.4138A>G (p.Asn1380Asp) n.368A>G | gnomAD v4 |
| 3 | g.49123218T>G | CA352695983 | LAMB2 | c.4138A>C (p.Asn1380His) n.368A>C | |
| 3 | g.49123219G>A | CA433634103 | LAMB2 | c.4137C>T (p.Phe1379=) n.367C>T | dbSNP |
| 3 | g.49123219G>C | CA352695988 | LAMB2 | c.4137C>G (p.Phe1379Leu) n.367C>G | |
| 3 | g.49123219G= | CA1363340078 | LAMB2 | c.4137C= (p.Phe1379=) n.367C= | |
| 3 | g.49123219G>T | CA352695987 | LAMB2 | c.4137C>A (p.Phe1379Leu) n.367C>A | |
| 3 | g.49123220A>C | CA352695989 | LAMB2 | c.4136T>G (p.Phe1379Cys) n.366T>G | |
| 3 | g.49123220A>G | CA352695993 | LAMB2 | c.4136T>C (p.Phe1379Ser) n.366T>C | |
| 3 | g.49123220A>T | CA352695994 | LAMB2 | c.4136T>A (p.Phe1379Tyr) n.366T>A | |
| 3 | g.49123221A>C | CA352695997 | LAMB2 | c.4135T>G (p.Phe1379Val) n.365T>G | |
| 3 | g.49123221A>G | CA352695999 | LAMB2 | c.4135T>C (p.Phe1379Leu) n.365T>C | |
| 3 | g.49123221A>T | CA352696005 | LAMB2 | c.4135T>A (p.Phe1379Ile) n.365T>A | |
| 3 | g.49123222G>A | CA2393865 | LAMB2 | c.4134C>T (p.Asp1378=) n.364C>T | ClinVar dbSNP ExAC gnomAD v4 |
| 3 | g.49123222G>C | CA352696014 | LAMB2 | c.4134C>G (p.Asp1378Glu) n.364C>G | |
| 3 | g.49123222G= | CA1363340081 | LAMB2 | c.4134C= (p.Asp1378=) n.364C= | |
| 3 | g.49123222G>T | CA352696020 | LAMB2 | c.4134C>A (p.Asp1378Glu) n.364C>A | |
| 3 | g.49123222_49123225delinsGTCC | CA1363340084 | LAMB2 | c.4131_4134delinsGGAC (p.Glu1377=) n.361_364delinsGGAC | |
| 3 | g.49123223T>A | CA352696028 | LAMB2 | c.4133A>T (p.Asp1378Val) n.363A>T | |
| 3 | g.49123223T>C | CA352696033 | LAMB2 | c.4133A>G (p.Asp1378Gly) n.363A>G | ClinVar gnomAD v4 |
| 3 | g.49123223T>G | CA352696025 | LAMB2 | c.4133A>C (p.Asp1378Ala) n.363A>C | |
| 3 | g.49123227_49123229del | CA352696021 | LAMB2 | c.4131_4133del (p.Glu1377del) n.361_363del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123224C>A | CA352696039 | LAMB2 | c.4132G>T (p.Asp1378Tyr) n.362G>T | |
| 3 | g.49123224C= | CA1363340089 | LAMB2 | c.4132G= (p.Asp1378=) n.362G= | |
| 3 | g.49123224C>G | CA352696047 | LAMB2 | c.4132G>C (p.Asp1378His) n.362G>C | |
| 3 | g.49123224C>T | CA352696050 | LAMB2 | c.4132G>A (p.Asp1378Asn) n.362G>A | dbSNP |
| 3 | g.49123225C>A | CA352696057 | LAMB2 | c.4131G>T (p.Glu1377Asp) n.361G>T | |
| 3 | g.49123225C>G | CA352696072 | LAMB2 | c.4131G>C (p.Glu1377Asp) n.361G>C | |
| 3 | g.49123225C>T | CA433634120 | LAMB2 | c.4131G>A (p.Glu1377=) n.361G>A | |
| 3 | g.49123226T>A | CA352696073 | LAMB2 | c.4130A>T (p.Glu1377Val) n.360A>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123226T>C | CA352696075 | LAMB2 | c.4130A>G (p.Glu1377Gly) n.360A>G | |
| 3 | g.49123226T>G | CA352696078 | LAMB2 | c.4130A>C (p.Glu1377Ala) n.360A>C | |
| 3 | g.49123226T= | CA1363340092 | LAMB2 | c.4130A= (p.Glu1377=) n.360A= | |
| 3 | g.49123227C>A | CA352696083 | LAMB2 | c.4129G>T (p.Glu1377Ter) n.359G>T | |
| 3 | g.49123227C>G | CA352696089 | LAMB2 | c.4129G>C (p.Glu1377Gln) n.359G>C | |
| 3 | g.49123227C>T | CA352696085 | LAMB2 | c.4129G>A (p.Glu1377Lys) n.359G>A | gnomAD v4 |
| 3 | g.49123227_49123230delinsCCTT | CA1363340094 | LAMB2 | c.4126_4129delinsAAGG (p.Lys1376=) n.356_359delinsAAGG | |
| 3 | g.49123228C>A | CA352696093 | LAMB2 | c.4128G>T (p.Lys1376Asn) n.358G>T | |
| 3 | g.49123228C>G | CA352696112 | LAMB2 | c.4128G>C (p.Lys1376Asn) n.358G>C | |
| 3 | g.49123228C>T | CA433634125 | LAMB2 | c.4128G>A (p.Lys1376=) n.358G>A | |
| 3 | g.49123230_49123232del | CA2393866 | LAMB2 | c.4126_4128del (p.Lys1376del) n.356_358del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123229T>A | CA352696124 | LAMB2 | c.4127A>T (p.Lys1376Met) n.357A>T | |
| 3 | g.49123229T>C | CA352696127 | LAMB2 | c.4127A>G (p.Lys1376Arg) n.357A>G | |
| 3 | g.49123229T>G | CA352696132 | LAMB2 | c.4127A>C (p.Lys1376Thr) n.357A>C | |
| 3 | g.49123230T>A | CA352696143 | LAMB2 | c.4126A>T (p.Lys1376Ter) n.356A>T | |
| 3 | g.49123230T>C | CA352696148 | LAMB2 | c.4126A>G (p.Lys1376Glu) n.356A>G | dbSNP gnomAD v4 |
| 3 | g.49123230T>G | CA352696146 | LAMB2 | c.4126A>C (p.Lys1376Gln) n.356A>C | |
| 3 | g.49123230T= | CA1363340098 | LAMB2 | c.4126A= (p.Lys1376=) n.356A= | |
| 3 | g.49123231C>A | CA352696151 | LAMB2 | c.4125G>T (p.Gln1375His) n.355G>T | dbSNP |
| 3 | g.49123231C= | CA1363340100 | LAMB2 | c.4125G= (p.Gln1375=) n.355G= | |
| 3 | g.49123231C>G | CA352696155 | LAMB2 | c.4125G>C (p.Gln1375His) n.355G>C | |
| 3 | g.49123231C>T | CA433634129 | LAMB2 | c.4125G>A (p.Gln1375=) n.355G>A | |
| 3 | g.49123232T>A | CA352696160 | LAMB2 | c.4124A>T (p.Gln1375Leu) n.354A>T | |
| 3 | g.49123232T>C | CA352696174 | LAMB2 | c.4124A>G (p.Gln1375Arg) n.354A>G | |
| 3 | g.49123232T>G | CA352696175 | LAMB2 | c.4124A>C (p.Gln1375Pro) n.354A>C | |
| 3 | g.49123233G>A | CA352696177 | LAMB2 | c.4123C>T (p.Gln1375Ter) n.353C>T | |
| 3 | g.49123233G>C | CA352696179 | LAMB2 | c.4123C>G (p.Gln1375Glu) n.353C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123233G= | CA1363340102 | LAMB2 | c.4123C= (p.Gln1375=) n.353C= | |
| 3 | g.49123233G>T | CA352696184 | LAMB2 | c.4123C>A (p.Gln1375Lys) n.353C>A | |
| 3 | g.49123234A>C | CA433634132 | LAMB2 | c.4122T>G (p.Ala1374=) n.352T>G | |
| 3 | g.49123234A>G | CA433634133 | LAMB2 | c.4122T>C (p.Ala1374=) n.352T>C | |
| 3 | g.49123234A>T | CA433634134 | LAMB2 | c.4122T>A (p.Ala1374=) n.352T>A | |
| 3 | g.49123235G>A | CA352696190 | LAMB2 | c.4121C>T (p.Ala1374Val) n.351C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123235G>C | CA352696192 | LAMB2 | c.4121C>G (p.Ala1374Gly) n.351C>G | |
| 3 | g.49123235G= | CA1363340104 | LAMB2 | c.4121C= (p.Ala1374=) n.351C= | |
| 3 | g.49123235G>T | CA352696194 | LAMB2 | c.4121C>A (p.Ala1374Asp) n.351C>A | |
| 3 | g.49123236C>A | CA352696198 | LAMB2 | c.4120G>T (p.Ala1374Ser) n.350G>T | |
| 3 | g.49123236C= | CA1363340105 | LAMB2 | c.4120G= (p.Ala1374=) n.350G= | |
| 3 | g.49123236C>G | CA352696201 | LAMB2 | c.4120G>C (p.Ala1374Pro) n.350G>C | |
| 3 | g.49123236C>T | CA74476985 | LAMB2 | c.4120G>A (p.Ala1374Thr) n.350G>A | dbSNP gnomAD v4 |
| 3 | g.49123237A>C | CA352696210 | LAMB2 | c.4119T>G (p.Asp1373Glu) n.349T>G | gnomAD v4 |
| 3 | g.49123237A>G | CA433634138 | LAMB2 | c.4119T>C (p.Asp1373=) n.349T>C | gnomAD v4 |
| 3 | g.49123237A>T | CA352696213 | LAMB2 | c.4119T>A (p.Asp1373Glu) n.349T>A | |
| 3 | g.49123238T>A | CA352696220 | LAMB2 | c.4118A>T (p.Asp1373Val) n.348A>T | |
| 3 | g.49123238T>C | CA2393867 | LAMB2 | c.4118A>G (p.Asp1373Gly) n.348A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49123238T>G | CA2393868 | LAMB2 | c.4118A>C (p.Asp1373Ala) n.348A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123238T= | CA1363340107 | LAMB2 | c.4118A= (p.Asp1373=) n.348A= | |
| 3 | g.49123239C>A | CA352696230 | LAMB2 | c.4117G>T (p.Asp1373Tyr) n.347G>T | |
| 3 | g.49123239C>G | CA352696233 | LAMB2 | c.4117G>C (p.Asp1373His) n.347G>C | |
| 3 | g.49123239C>T | CA352696237 | LAMB2 | c.4117G>A (p.Asp1373Asn) n.347G>A | |
| 3 | g.49123240C>A | CA352696238 | LAMB2 | c.4116G>T (p.Met1372Ile) n.346G>T | |
| 3 | g.49123240C>G | CA352696239 | LAMB2 | c.4116G>C (p.Met1372Ile) n.346G>C | |
| 3 | g.49123240C>T | CA352696241 | LAMB2 | c.4116G>A (p.Met1372Ile) n.346G>A | |
| 3 | g.49123241A>C | CA352696247 | LAMB2 | c.4115T>G (p.Met1372Arg) n.345T>G | |
| 3 | g.49123241A>G | CA352696251 | LAMB2 | c.4115T>C (p.Met1372Thr) n.345T>C | gnomAD v4 |
| 3 | g.49123241A>T | CA352696257 | LAMB2 | c.4115T>A (p.Met1372Lys) n.345T>A | |
| 3 | g.49123242T>A | CA352696297 | LAMB2 | c.4114A>T (p.Met1372Leu) n.344A>T | |
| 3 | g.49123242T>C | CA352696293 | LAMB2 | c.4114A>G (p.Met1372Val) n.344A>G | gnomAD v4 |
| 3 | g.49123242T>G | CA352696264 | LAMB2 | c.4114A>C (p.Met1372Leu) n.344A>C | |
| 3 | g.49123243C>A | CA433634144 | LAMB2 | c.4113G>T (p.Leu1371=) n.343G>T | |
| 3 | g.49123243C= | CA1363340110 | LAMB2 | c.4113G= (p.Leu1371=) n.343G= | |
| 3 | g.49123243C>G | CA433634146 | LAMB2 | c.4113G>C (p.Leu1371=) n.343G>C | |
| 3 | g.49123243C>T | CA2393869 | LAMB2 | c.4113G>A (p.Leu1371=) n.343G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123244A= | CA1363340112 | LAMB2 | c.4112T= (p.Leu1371=) n.342T= | |
| 3 | g.49123244A>C | CA352696310 | LAMB2 | c.4112T>G (p.Leu1371Arg) n.342T>G | |
| 3 | g.49123244A>G | CA2393870 | LAMB2 | c.4112T>C (p.Leu1371Pro) n.342T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123244A>T | CA352696315 | LAMB2 | c.4112T>A (p.Leu1371Gln) n.342T>A | |
| 3 | g.49123245G>A | CA433634148 | LAMB2 | c.4111C>T (p.Leu1371=) n.341C>T | |
| 3 | g.49123245G>C | CA352696330 | LAMB2 | c.4111C>G (p.Leu1371Val) n.341C>G | |
| 3 | g.49123245G= | CA1363340113 | LAMB2 | c.4111C= (p.Leu1371=) n.341C= | |
| 3 | g.49123245G>T | CA2393871 | LAMB2 | c.4111C>A (p.Leu1371Met) n.341C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123246T>A | CA433634149 | LAMB2 | c.4110A>T (p.Ala1370=) n.340A>T | |
| 3 | g.49123246T>C | CA433634151 | LAMB2 | c.4110A>G (p.Ala1370=) n.340A>G | dbSNP |
| 3 | g.49123246T>G | CA433634154 | LAMB2 | c.4110A>C (p.Ala1370=) n.340A>C | |
| 3 | g.49123246T= | CA1363340115 | LAMB2 | c.4110A= (p.Ala1370=) n.340A= | |
| 3 | g.49123247G>A | CA352696342 | LAMB2 | c.4109C>T (p.Ala1370Val) n.339C>T | |
| 3 | g.49123247G>C | CA352696357 | LAMB2 | c.4109C>G (p.Ala1370Gly) n.339C>G | |
| 3 | g.49123247G>T | CA352696361 | LAMB2 | c.4109C>A (p.Ala1370Glu) n.339C>A | |
| 3 | g.49123248C>A | CA352696366 | LAMB2 | c.4108G>T (p.Ala1370Ser) n.338G>T | |
| 3 | g.49123248C>G | CA352696368 | LAMB2 | c.4108G>C (p.Ala1370Pro) n.338G>C | gnomAD v4 |
| 3 | g.49123248C>T | CA352696372 | LAMB2 | c.4108G>A (p.Ala1370Thr) n.338G>A | COSMIC |
| 3 | g.49123249C>A | CA352696377 | LAMB2 | c.4107G>T (p.Glu1369Asp) n.337G>T | |
| 3 | g.49123249C>G | CA352696381 | LAMB2 | c.4107G>C (p.Glu1369Asp) n.337G>C | |
| 3 | g.49123249C>T | CA433634162 | LAMB2 | c.4107G>A (p.Glu1369=) n.337G>A | |
| 3 | g.49123250T>A | CA352696385 | LAMB2 | c.4106A>T (p.Glu1369Val) n.336A>T | |
| 3 | g.49123250T>C | CA352696386 | LAMB2 | c.4106A>G (p.Glu1369Gly) n.336A>G | |
| 3 | g.49123250T>G | CA352696388 | LAMB2 | c.4106A>C (p.Glu1369Ala) n.336A>C | |
| 3 | g.49123251C>A | CA352696406 | LAMB2 | c.4105G>T (p.Glu1369Ter) n.335G>T | |
| 3 | g.49123251C>G | CA352696393 | LAMB2 | c.4105G>C (p.Glu1369Gln) n.335G>C | |
| 3 | g.49123251C>T | CA352696397 | LAMB2 | c.4105G>A (p.Glu1369Lys) n.335G>A | gnomAD v4 COSMIC |
| 3 | g.49123252T>A | CA433634164 | LAMB2 | c.4104A>T (p.Thr1368=) n.334A>T | |
| 3 | g.49123252T>C | CA433634165 | LAMB2 | c.4104A>G (p.Thr1368=) n.334A>G | |
| 3 | g.49123252T>G | CA433634167 | LAMB2 | c.4104A>C (p.Thr1368=) n.334A>C | |
| 3 | g.49123253G>A | CA352696415 | LAMB2 | c.4103C>T (p.Thr1368Ile) n.333C>T | |
| 3 | g.49123253G>C | CA352696418 | LAMB2 | c.4103C>G (p.Thr1368Arg) n.333C>G | |
| 3 | g.49123253G>T | CA352696421 | LAMB2 | c.4103C>A (p.Thr1368Lys) n.333C>A | |
| 3 | g.49123254T>A | CA352696429 | LAMB2 | c.4102A>T (p.Thr1368Ser) n.332A>T | dbSNP |
| 3 | g.49123254T>C | CA352696436 | LAMB2 | c.4102A>G (p.Thr1368Ala) n.332A>G | |
| 3 | g.49123254T>G | CA352696444 | LAMB2 | c.4102A>C (p.Thr1368Pro) n.332A>C | |
| 3 | g.49123254T= | CA1363340117 | LAMB2 | c.4102A= (p.Thr1368=) n.332A= | |
| 3 | g.49123255C>A | CA433634172 | LAMB2 | c.4101G>T (p.Arg1367=) n.331G>T | |
| 3 | g.49123255C>G | CA433634174 | LAMB2 | c.4101G>C (p.Arg1367=) n.331G>C | |
| 3 | g.49123255C>T | CA433634175 | LAMB2 | c.4101G>A (p.Arg1367=) n.331G>A | |
| 3 | g.49123256C>A | CA352696455 | LAMB2 | c.4100G>T (p.Arg1367Leu) n.330G>T | |
| 3 | g.49123256C= | CA1363340118 | LAMB2 | c.4100G= (p.Arg1367=) n.330G= | |
| 3 | g.49123256C>G | CA2393872 | LAMB2 | c.4100G>C (p.Arg1367Pro) n.330G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123256C>T | CA352696458 | LAMB2 | c.4100G>A (p.Arg1367Gln) n.330G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123257G>A | CA2393873 | LAMB2 | c.4099C>T (p.Arg1367Trp) n.329C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123257G>C | CA352696463 | LAMB2 | c.4099C>G (p.Arg1367Gly) n.329C>G | |
| 3 | g.49123257G= | CA1363340120 | LAMB2 | c.4099C= (p.Arg1367=) n.329C= | |
| 3 | g.49123257G>T | CA433634179 | LAMB2 | c.4099C>A (p.Arg1367=) n.329C>A | |
| 3 | g.49123258A>C | CA352696483 | LAMB2 | c.4098T>G (p.His1366Gln) n.328T>G | |
| 3 | g.49123258A>G | CA433634181 | LAMB2 | c.4098T>C (p.His1366=) n.328T>C | gnomAD v4 |
| 3 | g.49123258A>T | CA352696468 | LAMB2 | c.4098T>A (p.His1366Gln) n.328T>A | |
| 3 | g.49123259T>A | CA352696489 | LAMB2 | c.4097A>T (p.His1366Leu) n.327A>T | dbSNP gnomAD v4 |
| 3 | g.49123259T>C | CA2393874 | LAMB2 | c.4097A>G (p.His1366Arg) n.327A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123259T>G | CA352696491 | LAMB2 | c.4097A>C (p.His1366Pro) n.327A>C | |
| 3 | g.49123259T= | CA1363340121 | LAMB2 | c.4097A= (p.His1366=) n.327A= | |
| 3 | g.49123260G>A | CA352696496 | LAMB2 | c.4096C>T (p.His1366Tyr) n.326C>T | |
| 3 | g.49123260G>C | CA352696520 | LAMB2 | c.4096C>G (p.His1366Asp) n.326C>G | |
| 3 | g.49123260G>T | CA352696525 | LAMB2 | c.4096C>A (p.His1366Asn) n.326C>A | |
| 3 | g.49123261C>A | CA433634188 | LAMB2 | c.4095G>T (p.Arg1365=) n.325G>T | |
| 3 | g.49123261C= | CA1363340124 | LAMB2 | c.4095G= (p.Arg1365=) n.325G= | |
| 3 | g.49123261C>G | CA433634187 | LAMB2 | c.4095G>C (p.Arg1365=) n.325G>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.49123261C>T | CA433634184 | LAMB2 | c.4095G>A (p.Arg1365=) n.325G>A | |
| 3 | g.49123262C>A | CA352696548 | LAMB2 | c.4094G>T (p.Arg1365Leu) n.324G>T | gnomAD v4 |
| 3 | g.49123262C= | CA1363340126 | LAMB2 | c.4094G= (p.Arg1365=) n.324G= | |
| 3 | g.49123262C>G | CA352696529 | LAMB2 | c.4094G>C (p.Arg1365Pro) n.324G>C | |
| 3 | g.49123262C>T | CA74477052 | LAMB2 | c.4094G>A (p.Arg1365Gln) n.324G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123263G>A | CA2393875 | LAMB2 | c.4093C>T (p.Arg1365Trp) n.323C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.49123263G>C | CA352696553 | LAMB2 | c.4093C>G (p.Arg1365Gly) n.323C>G | gnomAD v4 |
| 3 | g.49123263G= | CA1363340128 | LAMB2 | c.4093C= (p.Arg1365=) n.323C= | |
| 3 | g.49123263G>T | CA433634190 | LAMB2 | c.4093C>A (p.Arg1365=) n.323C>A | |
| 3 | g.49123264A>C | CA433634191 | LAMB2 | c.4092T>G (p.Ala1364=) n.322T>G | |
| 3 | g.49123264A>G | CA433634193 | LAMB2 | c.4092T>C (p.Ala1364=) n.322T>C | |
| 3 | g.49123264A>T | CA433634192 | LAMB2 | c.4092T>A (p.Ala1364=) n.322T>A | |
| 3 | g.49123265G>A | CA352696556 | LAMB2 | c.4091C>T (p.Ala1364Val) n.321C>T | |
| 3 | g.49123265G>C | CA352696560 | LAMB2 | c.4091C>G (p.Ala1364Gly) n.321C>G | |
| 3 | g.49123265G>T | CA352696572 | LAMB2 | c.4091C>A (p.Ala1364Asp) n.321C>A | |
| 3 | g.49123266C>A | CA352696577 | LAMB2 | c.4090G>T (p.Ala1364Ser) n.320G>T | gnomAD v4 |
| 3 | g.49123266C= | CA1363340130 | LAMB2 | c.4090G= (p.Ala1364=) n.320G= | |
| 3 | g.49123266C>G | CA352696583 | LAMB2 | c.4090G>C (p.Ala1364Pro) n.320G>C | |
| 3 | g.49123266C>T | CA352696581 | LAMB2 | c.4090G>A (p.Ala1364Thr) n.320G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123267A>C | CA352696589 | LAMB2 | c.4089T>G (p.Ser1363Arg) n.319T>G | gnomAD v4 |
| 3 | g.49123267A>G | CA433634201 | LAMB2 | c.4089T>C (p.Ser1363=) n.319T>C | COSMIC |
| 3 | g.49123267A>T | CA352696603 | LAMB2 | c.4089T>A (p.Ser1363Arg) n.319T>A | |
| 3 | g.49123268C>A | CA352696607 | LAMB2 | c.4088G>T (p.Ser1363Ile) n.318G>T | |
| 3 | g.49123268C>G | CA352696608 | LAMB2 | c.4088G>C (p.Ser1363Thr) n.318G>C | gnomAD v4 |
| 3 | g.49123268C>T | CA352696612 | LAMB2 | c.4088G>A (p.Ser1363Asn) n.318G>A | |
| 3 | g.49123269T>A | CA352696619 | LAMB2 | c.4087A>T (p.Ser1363Cys) n.317A>T | |
| 3 | g.49123269T>C | CA352696626 | LAMB2 | c.4087A>G (p.Ser1363Gly) n.317A>G | |
| 3 | g.49123269T>G | CA352696637 | LAMB2 | c.4087A>C (p.Ser1363Arg) n.317A>C | gnomAD v4 |
| 3 | g.49123270T>A | CA433634207 | LAMB2 | c.4086A>T (p.Ala1362=) n.316A>T | |
| 3 | g.49123270T>C | CA433634209 | LAMB2 | c.4086A>G (p.Ala1362=) n.316A>G | |
| 3 | g.49123270T>G | CA433634211 | LAMB2 | c.4086A>C (p.Ala1362=) n.316A>C | |
| 3 | g.49123271G>A | CA352696654 | LAMB2 | c.4085C>T (p.Ala1362Val) n.315C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123271G>C | CA352696657 | LAMB2 | c.4085C>G (p.Ala1362Gly) n.315C>G | dbSNP |
| 3 | g.49123271G= | CA1363340131 | LAMB2 | c.4085C= (p.Ala1362=) n.315C= | |
| 3 | g.49123271G>T | CA352696662 | LAMB2 | c.4085C>A (p.Ala1362Glu) n.315C>A | |
| 3 | g.49123272C>A | CA352696675 | LAMB2 | c.4084G>T (p.Ala1362Ser) n.314G>T | |
| 3 | g.49123272C= | CA1363340133 | LAMB2 | c.4084G= (p.Ala1362=) n.314G= | |
| 3 | g.49123272C>G | CA2393876 | LAMB2 | c.4084G>C (p.Ala1362Pro) n.314G>C | dbSNP ExAC gnomAD v2 |
| 3 | g.49123272C>T | CA352696671 | LAMB2 | c.4084G>A (p.Ala1362Thr) n.314G>A | |
| 3 | g.49123273C>A | CA433634216 | LAMB2 | c.4083G>T (p.Ser1361=) n.313G>T | |
| 3 | g.49123273C= | CA1363340134 | LAMB2 | c.4083G= (p.Ser1361=) n.313G= | |
| 3 | g.49123273C>G | CA433634217 | LAMB2 | c.4083G>C (p.Ser1361=) n.313G>C | |
| 3 | g.49123273C>T | CA433634218 | LAMB2 | c.4083G>A (p.Ser1361=) n.313G>A | dbSNP gnomAD v4 |
| 3 | g.49123274G>A | CA2393877 | LAMB2 | c.4082C>T (p.Ser1361Leu) n.312C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123274G>C | CA352696676 | LAMB2 | c.4082C>G (p.Ser1361Trp) n.312C>G | |
| 3 | g.49123274G= | CA1363340135 | LAMB2 | c.4082C= (p.Ser1361=) n.312C= | |
| 3 | g.49123274G>T | CA352696678 | LAMB2 | c.4082C>A (p.Ser1361Ter) n.312C>A | |
| 3 | g.49123275A>C | CA352696682 | LAMB2 | c.4081T>G (p.Ser1361Ala) n.311T>G | |
| 3 | g.49123275A>G | CA352696683 | LAMB2 | c.4081T>C (p.Ser1361Pro) n.311T>C | |
| 3 | g.49123275A>T | CA352696688 | LAMB2 | c.4081T>A (p.Ser1361Thr) n.311T>A | |
| 3 | g.49123276G>A | CA433634224 | LAMB2 | c.4080C>T (p.Asn1360=) n.310C>T | |
| 3 | g.49123276G>C | CA352696689 | LAMB2 | c.4080C>G (p.Asn1360Lys) n.310C>G | |
| 3 | g.49123276G>T | CA352696691 | LAMB2 | c.4080C>A (p.Asn1360Lys) n.310C>A | |
| 3 | g.49123277T>A | CA352696699 | LAMB2 | c.4079A>T (p.Asn1360Ile) n.309A>T | gnomAD v4 |
| 3 | g.49123277T>C | CA352696700 | LAMB2 | c.4079A>G (p.Asn1360Ser) n.309A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123277T>G | CA352696701 | LAMB2 | c.4079A>C (p.Asn1360Thr) n.309A>C | |
| 3 | g.49123277T= | CA1363340137 | LAMB2 | c.4079A= (p.Asn1360=) n.309A= | |
| 3 | g.49123278T>A | CA352696702 | LAMB2 | c.4078A>T (p.Asn1360Tyr) n.308A>T | |
| 3 | g.49123278T>C | CA352696704 | LAMB2 | c.4078A>G (p.Asn1360Asp) n.308A>G | |
| 3 | g.49123278T>G | CA352696707 | LAMB2 | c.4078A>C (p.Asn1360His) n.308A>C | |
| 3 | g.49123279G>A | CA433634229 | LAMB2 | c.4077C>T (p.Ser1359=) n.307C>T | |
| 3 | g.49123279G>C | CA352696716 | LAMB2 | c.4077C>G (p.Ser1359Arg) n.307C>G | |
| 3 | g.49123279G>T | CA352696712 | LAMB2 | c.4077C>A (p.Ser1359Arg) n.307C>A | |
| 3 | g.49123280C>A | CA352696732 | LAMB2 | c.4076G>T (p.Ser1359Ile) n.306G>T | |
| 3 | g.49123280C>G | CA352696733 | LAMB2 | c.4076G>C (p.Ser1359Thr) n.306G>C | |
| 3 | g.49123280C>T | CA352696734 | LAMB2 | c.4076G>A (p.Ser1359Asn) n.306G>A | gnomAD v4 |
| 3 | g.49123281T>A | CA352696740 | LAMB2 | c.4075A>T (p.Ser1359Cys) n.305A>T | |
| 3 | g.49123281T>C | CA352696744 | LAMB2 | c.4075A>G (p.Ser1359Gly) n.305A>G | ClinVar dbSNP |
| 3 | g.49123281T>G | CA352696749 | LAMB2 | c.4075A>C (p.Ser1359Arg) n.305A>C | |
| 3 | g.49123282C>A | CA433634234 | LAMB2 | c.4074G>T (p.Val1358=) n.304G>T | |
| 3 | g.49123282C>G | CA433634236 | LAMB2 | c.4074G>C (p.Val1358=) n.304G>C | |
| 3 | g.49123282C>T | CA433634237 | LAMB2 | c.4074G>A (p.Val1358=) n.304G>A | gnomAD v4 |
| 3 | g.49123283A>C | CA352696753 | LAMB2 | c.4073T>G (p.Val1358Gly) n.303T>G | |
| 3 | g.49123283A>G | CA352696761 | LAMB2 | c.4073T>C (p.Val1358Ala) n.303T>C | |
| 3 | g.49123283A>T | CA352696766 | LAMB2 | c.4073T>A (p.Val1358Glu) n.303T>A | gnomAD v4 |
| 3 | g.49123284C>A | CA352696786 | LAMB2 | c.4072G>T (p.Val1358Leu) n.302G>T | |
| 3 | g.49123284C>G | CA352696787 | LAMB2 | c.4072G>C (p.Val1358Leu) n.302G>C | |
| 3 | g.49123284C>T | CA352696791 | LAMB2 | c.4072G>A (p.Val1358Met) n.302G>A | |
| 3 | g.49123285A= | CA1363340139 | LAMB2 | c.4071T= (p.Pro1357=) n.301T= | |
| 3 | g.49123285A>C | CA433634246 | LAMB2 | c.4071T>G (p.Pro1357=) n.301T>G | |
| 3 | g.49123285A>G | CA2393878 | LAMB2 | c.4071T>C (p.Pro1357=) n.301T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123285A>T | CA433634245 | LAMB2 | c.4071T>A (p.Pro1357=) n.301T>A | |
| 3 | g.49123286G>A | CA2393879 | LAMB2 | c.4070C>T (p.Pro1357Leu) n.300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123286G>C | CA352696802 | LAMB2 | c.4070C>G (p.Pro1357Arg) n.300C>G | |
| 3 | g.49123286G= | CA1363340141 | LAMB2 | c.4070C= (p.Pro1357=) n.300C= | |
| 3 | g.49123286G>T | CA352696798 | LAMB2 | c.4070C>A (p.Pro1357His) n.300C>A | |
| 3 | g.49123287G>A | CA352696806 | LAMB2 | c.4069C>T (p.Pro1357Ser) n.299C>T | |
| 3 | g.49123287G>C | CA352696814 | LAMB2 | c.4069C>G (p.Pro1357Ala) n.299C>G | |
| 3 | g.49123287G>T | CA352696810 | LAMB2 | c.4069C>A (p.Pro1357Thr) n.299C>A | |
| 3 | g.49123288G>A | CA433634253 | LAMB2 | c.4068C>T (p.Ser1356=) n.298C>T | |
| 3 | g.49123288G>C | CA352696819 | LAMB2 | c.4068C>G (p.Ser1356Arg) n.298C>G | |
| 3 | g.49123288G>T | CA352696822 | LAMB2 | c.4068C>A (p.Ser1356Arg) n.298C>A | |
| 3 | g.49123289C>A | CA352696834 | LAMB2 | c.4067G>T (p.Ser1356Ile) n.297G>T | |
| 3 | g.49123289C= | CA1363340144 | LAMB2 | c.4067G= (p.Ser1356=) n.297G= | |
| 3 | g.49123289C>G | CA352696842 | LAMB2 | c.4067G>C (p.Ser1356Thr) n.297G>C | gnomAD v4 |
| 3 | g.49123289C>T | CA352696851 | LAMB2 | c.4067G>A (p.Ser1356Asn) n.297G>A | ClinVar dbSNP |
| 3 | g.49123290T>A | CA352696854 | LAMB2 | c.4066A>T (p.Ser1356Cys) n.296A>T | |
| 3 | g.49123290T>C | CA352696859 | LAMB2 | c.4066A>G (p.Ser1356Gly) n.296A>G | |
| 3 | g.49123290T>G | CA352696860 | LAMB2 | c.4066A>C (p.Ser1356Arg) n.296A>C | |
| 3 | g.49123291A>C | CA433634255 | LAMB2 | c.4065T>G (p.Pro1355=) n.295T>G | |
| 3 | g.49123291A>G | CA433634257 | LAMB2 | c.4065T>C (p.Pro1355=) n.295T>C | gnomAD v4 |
| 3 | g.49123291A>T | CA433634256 | LAMB2 | c.4065T>A (p.Pro1355=) n.295T>A | |
| 3 | g.49123292G>A | CA74477149 | LAMB2 | c.4064C>T (p.Pro1355Leu) n.294C>T | dbSNP gnomAD v4 |
| 3 | g.49123292G>C | CA352696866 | LAMB2 | c.4064C>G (p.Pro1355Arg) n.294C>G | |
| 3 | g.49123292G= | CA1363340145 | LAMB2 | c.4064C= (p.Pro1355=) n.294C= | |
| 3 | g.49123292G>T | CA352696875 | LAMB2 | c.4064C>A (p.Pro1355His) n.294C>A | |
| 3 | g.49123293G>A | CA352696888 | LAMB2 | c.4063C>T (p.Pro1355Ser) n.293C>T | dbSNP |
| 3 | g.49123293G>C | CA352696881 | LAMB2 | c.4063C>G (p.Pro1355Ala) n.293C>G | gnomAD v4 |
| 3 | g.49123293G= | CA1363340147 | LAMB2 | c.4063C= (p.Pro1355=) n.293C= | |
| 3 | g.49123293G>T | CA352696879 | LAMB2 | c.4063C>A (p.Pro1355Thr) n.293C>A | |
| 3 | g.49123294T>A | CA433634260 | LAMB2 | c.4062A>T (p.Val1354=) n.292A>T | |
| 3 | g.49123294T>C | CA433634261 | LAMB2 | c.4062A>G (p.Val1354=) n.292A>G | |
| 3 | g.49123294T>G | CA433634262 | LAMB2 | c.4062A>C (p.Val1354=) n.292A>C | |
| 3 | g.49123295A= | CA1363340148 | LAMB2 | c.4061T= (p.Val1354=) n.291T= | |
| 3 | g.49123295A>C | CA352696892 | LAMB2 | c.4061T>G (p.Val1354Gly) n.291T>G | |
| 3 | g.49123295A>G | CA2393880 | LAMB2 | c.4061T>C (p.Val1354Ala) n.291T>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.49123295A>T | CA352696896 | LAMB2 | c.4061T>A (p.Val1354Glu) n.291T>A | |
| 3 | g.49123296C>A | CA352696898 | LAMB2 | c.4060G>T (p.Val1354Leu) n.290G>T | |
| 3 | g.49123296C= | CA1363340150 | LAMB2 | c.4060G= (p.Val1354=) n.290G= | |
| 3 | g.49123296C>G | CA352696913 | LAMB2 | c.4060G>C (p.Val1354Leu) n.290G>C | gnomAD v4 |
| 3 | g.49123296C>T | CA74477162 | LAMB2 | c.4060G>A (p.Val1354Ile) n.290G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49123297T>A | CA433634266 | LAMB2 | c.4059A>T (p.Ala1353=) n.289A>T | |
| 3 | g.49123297T>C | CA2393881 | LAMB2 | c.4059A>G (p.Ala1353=) n.289A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123297T>G | CA433634267 | LAMB2 | c.4059A>C (p.Ala1353=) n.289A>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123297T= | CA1363340152 | LAMB2 | c.4059A= (p.Ala1353=) n.289A= | |
| 3 | g.49123298G>A | CA352696927 | LAMB2 | c.4058C>T (p.Ala1353Val) n.288C>T | gnomAD v3 gnomAD v4 |
| 3 | g.49123298G>C | CA352696930 | LAMB2 | c.4058C>G (p.Ala1353Gly) n.288C>G | |
| 3 | g.49123298G>T | CA352696933 | LAMB2 | c.4058C>A (p.Ala1353Glu) n.288C>A | |
| 3 | g.49123299C>A | CA352696945 | LAMB2 | c.4057G>T (p.Ala1353Ser) n.287G>T | |
| 3 | g.49123299C>G | CA352696958 | LAMB2 | c.4057G>C (p.Ala1353Pro) n.287G>C | |
| 3 | g.49123299C>T | CA352696976 | LAMB2 | c.4057G>A (p.Ala1353Thr) n.287G>A | |
| 3 | g.49123300C>A | CA433634269 | LAMB2 | c.4056G>T (p.Leu1352=) n.286G>T | |
| 3 | g.49123300C>G | CA433634270 | LAMB2 | c.4056G>C (p.Leu1352=) n.286G>C | gnomAD v4 |
| 3 | g.49123300C>T | CA433634271 | LAMB2 | c.4056G>A (p.Leu1352=) n.286G>A | |
| 3 | g.49123301A>C | CA352696988 | LAMB2 | c.4055T>G (p.Leu1352Arg) n.285T>G | |
| 3 | g.49123301A>G | CA352696993 | LAMB2 | c.4055T>C (p.Leu1352Pro) n.285T>C | |
| 3 | g.49123301A>T | CA352696982 | LAMB2 | c.4055T>A (p.Leu1352Gln) n.285T>A | |
| 3 | g.49123302G>A | CA433634273 | LAMB2 | c.4054C>T (p.Leu1352=) n.284C>T | gnomAD v4 |
| 3 | g.49123302G>C | CA352697003 | LAMB2 | c.4054C>G (p.Leu1352Val) n.284C>G | |
| 3 | g.49123302G>T | CA352697007 | LAMB2 | c.4054C>A (p.Leu1352Met) n.284C>A | |
| 3 | g.49123303G>A | CA433634274 | LAMB2 | c.4053C>T (p.Ala1351=) n.283C>T | |
| 3 | g.49123303G>C | CA433634275 | LAMB2 | c.4053C>G (p.Ala1351=) n.283C>G | |
| 3 | g.49123303G>T | CA433634276 | LAMB2 | c.4053C>A (p.Ala1351=) n.283C>A | |
| 3 | g.49123304G>A | CA352697012 | LAMB2 | c.4052C>T (p.Ala1351Val) n.282C>T | |
| 3 | g.49123304G>C | CA352697019 | LAMB2 | c.4052C>G (p.Ala1351Gly) n.282C>G | |
| 3 | g.49123304G>T | CA352697014 | LAMB2 | c.4052C>A (p.Ala1351Asp) n.282C>A | |
| 3 | g.49123305C>A | CA352697020 | LAMB2 | c.4051G>T (p.Ala1351Ser) n.281G>T | |
| 3 | g.49123305C>G | CA352697026 | LAMB2 | c.4051G>C (p.Ala1351Pro) n.281G>C | |
| 3 | g.49123305C>T | CA352697023 | LAMB2 | c.4051G>A (p.Ala1351Thr) n.281G>A | |
| 3 | g.49123306T>A | CA433634278 | LAMB2 | c.4050A>T (p.Ser1350=) n.280A>T | |
| 3 | g.49123306T>C | CA433634279 | LAMB2 | c.4050A>G (p.Ser1350=) n.280A>G | |
| 3 | g.49123306T>G | CA433634280 | LAMB2 | c.4050A>C (p.Ser1350=) n.280A>C | gnomAD v4 |
| 3 | g.49123307G>A | CA352697043 | LAMB2 | c.4049C>T (p.Ser1350Leu) n.279C>T | |
| 3 | g.49123307G>C | CA352697051 | LAMB2 | c.4049C>G (p.Ser1350Ter) n.279C>G | |
| 3 | g.49123307G>T | CA352697058 | LAMB2 | c.4049C>A (p.Ser1350Ter) n.279C>A | |
| 3 | g.49123308A= | CA1363340155 | LAMB2 | c.4048T= (p.Ser1350=) n.278T= | |
| 3 | g.49123308A>C | CA352697071 | LAMB2 | c.4048T>G (p.Ser1350Ala) n.278T>G | |
| 3 | g.49123308A>G | CA352697083 | LAMB2 | c.4048T>C (p.Ser1350Pro) n.278T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123308A>T | CA352697089 | LAMB2 | c.4048T>A (p.Ser1350Thr) n.278T>A | |
| 3 | g.49123309G>A | CA433634283 | LAMB2 | c.4047C>T (p.Thr1349=) n.277C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123309G>C | CA433634284 | LAMB2 | c.4047C>G (p.Thr1349=) n.277C>G | dbSNP |
| 3 | g.49123309G= | CA1363340156 | LAMB2 | c.4047C= (p.Thr1349=) n.277C= | |
| 3 | g.49123309G>T | CA433634285 | LAMB2 | c.4047C>A (p.Thr1349=) n.277C>A | |
| 3 | g.49123310G>A | CA352697093 | LAMB2 | c.4046C>T (p.Thr1349Ile) n.276C>T | |
| 3 | g.49123310G>C | CA352697094 | LAMB2 | c.4046C>G (p.Thr1349Ser) n.276C>G | |
| 3 | g.49123310G>T | CA352697096 | LAMB2 | c.4046C>A (p.Thr1349Asn) n.276C>A | |
| 3 | g.49123311T>A | CA352697110 | LAMB2 | c.4045A>T (p.Thr1349Ser) n.275A>T | |
| 3 | g.49123311T>C | CA352697107 | LAMB2 | c.4045A>G (p.Thr1349Ala) n.275A>G | |
| 3 | g.49123311T>G | CA352697105 | LAMB2 | c.4045A>C (p.Thr1349Pro) n.275A>C | |
| 3 | g.49123312A>C | CA352697117 | LAMB2 | c.4044T>G (p.Asn1348Lys) n.274T>G | |
| 3 | g.49123312A>G | CA433634287 | LAMB2 | c.4044T>C (p.Asn1348=) n.274T>C | ClinVar |
| 3 | g.49123312A>T | CA352697119 | LAMB2 | c.4044T>A (p.Asn1348Lys) n.274T>A | |
| 3 | g.49123313T>A | CA2393883 | LAMB2 | c.4043A>T (p.Asn1348Ile) n.273A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123313T>C | CA2393882 | LAMB2 | c.4043A>G (p.Asn1348Ser) n.273A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123313T>G | CA352697137 | LAMB2 | c.4043A>C (p.Asn1348Thr) n.273A>C | |
| 3 | g.49123313T= | CA1363340158 | LAMB2 | c.4043A= (p.Asn1348=) n.273A= | |
| 3 | g.49123314T>A | CA352697141 | LAMB2 | c.4042A>T (p.Asn1348Tyr) n.272A>T | |
| 3 | g.49123314T>C | CA352697146 | LAMB2 | c.4042A>G (p.Asn1348Asp) n.272A>G | dbSNP |
| 3 | g.49123314T>G | CA352697148 | LAMB2 | c.4042A>C (p.Asn1348His) n.272A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123314T= | CA1363340160 | LAMB2 | c.4042A= (p.Asn1348=) n.272A= | |
| 3 | g.49123315G>A | CA433634293 | LAMB2 | c.4041C>T (p.Ala1347=) n.271C>T | |
| 3 | g.49123315G>C | CA433634292 | LAMB2 | c.4041C>G (p.Ala1347=) n.271C>G | |
| 3 | g.49123315G>T | CA433634291 | LAMB2 | c.4041C>A (p.Ala1347=) n.271C>A | |
| 3 | g.49123316G>A | CA352697149 | LAMB2 | c.4040C>T (p.Ala1347Val) n.270C>T | |
| 3 | g.49123316G>C | CA352697152 | LAMB2 | c.4040C>G (p.Ala1347Gly) n.270C>G | |
| 3 | g.49123316G>T | CA352697162 | LAMB2 | c.4040C>A (p.Ala1347Asp) n.270C>A | |
| 3 | g.49123317C>A | CA352697175 | LAMB2 | c.4039G>T (p.Ala1347Ser) n.269G>T | |
| 3 | g.49123317C>G | CA352697178 | LAMB2 | c.4039G>C (p.Ala1347Pro) n.269G>C | |
| 3 | g.49123317C>T | CA352697173 | LAMB2 | c.4039G>A (p.Ala1347Thr) n.269G>A | ClinVar dbSNP gnomAD v4 |