| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.49122942T>A | CA433634241 | LAMB2 | c.4335A>T (p.Ala1445=) n.644A>T | |
| 3 | g.49122942T>C | CA433634242 | LAMB2 | c.4335A>G (p.Ala1445=) n.644A>G | |
| 3 | g.49122942T>G | CA433634243 | LAMB2 | c.4335A>C (p.Ala1445=) n.644A>C | |
| 3 | g.49122943G>A | CA352694057 | LAMB2 | c.4334C>T (p.Ala1445Val) n.643C>T | gnomAD v4 |
| 3 | g.49122943G>C | CA352694061 | LAMB2 | c.4334C>G (p.Ala1445Gly) n.643C>G | |
| 3 | g.49122943G>T | CA352694069 | LAMB2 | c.4334C>A (p.Ala1445Glu) n.643C>A | gnomAD v4 COSMIC |
| 3 | g.49122944C>A | CA352694076 | LAMB2 | c.4333G>T (p.Ala1445Ser) n.642G>T | |
| 3 | g.49122944C>G | CA352694084 | LAMB2 | c.4333G>C (p.Ala1445Pro) n.642G>C | |
| 3 | g.49122944C>T | CA352694086 | LAMB2 | c.4333G>A (p.Ala1445Thr) n.642G>A | gnomAD v4 |
| 3 | g.49122945C>A | CA433634249 | LAMB2 | c.4332G>T (p.Gly1444=) n.641G>T | |
| 3 | g.49122945C= | CA1363339757 | LAMB2 | c.4332G= (p.Gly1444=) n.641G= | |
| 3 | g.49122945C>G | CA433634248 | LAMB2 | c.4332G>C (p.Gly1444=) n.641G>C | |
| 3 | g.49122945C>T | CA433634247 | LAMB2 | c.4332G>A (p.Gly1444=) n.641G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122946C>A | CA352694089 | LAMB2 | c.4331G>T (p.Gly1444Val) n.640G>T | |
| 3 | g.49122946C= | CA1363339759 | LAMB2 | c.4331G= (p.Gly1444=) n.640G= | |
| 3 | g.49122946C>G | CA352694091 | LAMB2 | c.4331G>C (p.Gly1444Ala) n.640G>C | dbSNP |
| 3 | g.49122946C>T | CA352694093 | LAMB2 | c.4331G>A (p.Gly1444Glu) n.640G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122947C>A | CA352694096 | LAMB2 | c.4330G>T (p.Gly1444Trp) n.639G>T | |
| 3 | g.49122947C>G | CA352694098 | LAMB2 | c.4330G>C (p.Gly1444Arg) n.639G>C | |
| 3 | g.49122947C>T | CA352694101 | LAMB2 | c.4330G>A (p.Gly1444Arg) n.639G>A | |
| 3 | g.49122948A>C | CA352694106 | LAMB2 | c.4329T>G (p.Asn1443Lys) n.638T>G | |
| 3 | g.49122948A>G | CA433633906 | LAMB2 | c.4329T>C (p.Asn1443=) n.638T>C | |
| 3 | g.49122948A>T | CA352694105 | LAMB2 | c.4329T>A (p.Asn1443Lys) n.638T>A | |
| 3 | g.49122949T>A | CA352694109 | LAMB2 | c.4328A>T (p.Asn1443Ile) n.637A>T | |
| 3 | g.49122949T>C | CA352694111 | LAMB2 | c.4328A>G (p.Asn1443Ser) n.637A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122949T>G | CA352694121 | LAMB2 | c.4328A>C (p.Asn1443Thr) n.637A>C | |
| 3 | g.49122949T= | CA1363339760 | LAMB2 | c.4328A= (p.Asn1443=) n.637A= | |
| 3 | g.49122950T>A | CA352694124 | LAMB2 | c.4327A>T (p.Asn1443Tyr) n.636A>T | |
| 3 | g.49122950T>C | CA352694125 | LAMB2 | c.4327A>G (p.Asn1443Asp) n.636A>G | |
| 3 | g.49122950T>G | CA352694126 | LAMB2 | c.4327A>C (p.Asn1443His) n.636A>C | |
| 3 | g.49122950_49122953delinsTGCA | CA1363339762 | LAMB2 | c.4324_4327delinsTGCA (p.Cys1442=) n.633_636delinsTGCA | |
| 3 | g.49122951G>A | CA433633907 | LAMB2 | c.4326C>T (p.Cys1442=) n.635C>T | |
| 3 | g.49122951G>C | CA352694128 | LAMB2 | c.4326C>G (p.Cys1442Trp) n.635C>G | |
| 3 | g.49122951G>T | CA352694130 | LAMB2 | c.4326C>A (p.Cys1442Ter) n.635C>A | gnomAD v4 |
| 3 | g.49122953_49122955del | CA907804851 | LAMB2 | c.4324_4326del (p.Cys1442del) n.633_635del | dbSNP gnomAD v4 |
| 3 | g.49122952C>A | CA352694135 | LAMB2 | c.4325G>T (p.Cys1442Phe) n.634G>T | |
| 3 | g.49122952C= | CA1363339766 | LAMB2 | c.4325G= (p.Cys1442=) n.634G= | |
| 3 | g.49122952C>G | CA352694137 | LAMB2 | c.4325G>C (p.Cys1442Ser) n.634G>C | |
| 3 | g.49122952C>T | CA352694139 | LAMB2 | c.4325G>A (p.Cys1442Tyr) n.634G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122953A>C | CA352694143 | LAMB2 | c.4324T>G (p.Cys1442Gly) n.633T>G | |
| 3 | g.49122953A>G | CA352694148 | LAMB2 | c.4324T>C (p.Cys1442Arg) n.633T>C | |
| 3 | g.49122953A>T | CA352694152 | LAMB2 | c.4324T>A (p.Cys1442Ser) n.633T>A | |
| 3 | g.49122954G>A | CA433633908 | LAMB2 | c.4323C>T (p.Ser1441=) n.632C>T | dbSNP gnomAD v4 |
| 3 | g.49122954G>C | CA352694168 | LAMB2 | c.4323C>G (p.Ser1441Arg) n.632C>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.49122954G= | CA1363339768 | LAMB2 | c.4323C= (p.Ser1441=) n.632C= | |
| 3 | g.49122954G>T | CA352694178 | LAMB2 | c.4323C>A (p.Ser1441Arg) n.632C>A | gnomAD v4 |
| 3 | g.49122955C>A | CA352694189 | LAMB2 | c.4322G>T (p.Ser1441Ile) n.631G>T | |
| 3 | g.49122955C>G | CA352694196 | LAMB2 | c.4322G>C (p.Ser1441Thr) n.631G>C | |
| 3 | g.49122955C>T | CA352694200 | LAMB2 | c.4322G>A (p.Ser1441Asn) n.631G>A | |
| 3 | g.49122956T>A | CA352694208 | LAMB2 | c.4321A>T (p.Ser1441Cys) n.630A>T | |
| 3 | g.49122956T>C | CA352694212 | LAMB2 | c.4321A>G (p.Ser1441Gly) n.630A>G | |
| 3 | g.49122956T>G | CA352694216 | LAMB2 | c.4321A>C (p.Ser1441Arg) n.630A>C | |
| 3 | g.49122957G>A | CA433633909 | LAMB2 | c.4320C>T (p.Leu1440=) n.629C>T | |
| 3 | g.49122957G>C | CA433633910 | LAMB2 | c.4320C>G (p.Leu1440=) n.629C>G | COSMIC |
| 3 | g.49122957G>T | CA433633911 | LAMB2 | c.4320C>A (p.Leu1440=) n.629C>A | gnomAD v4 |
| 3 | g.49122958A>C | CA352694221 | LAMB2 | c.4319T>G (p.Leu1440Arg) n.628T>G | |
| 3 | g.49122958A>G | CA352694222 | LAMB2 | c.4319T>C (p.Leu1440Pro) n.628T>C | |
| 3 | g.49122958A>T | CA352694223 | LAMB2 | c.4319T>A (p.Leu1440His) n.628T>A | |
| 3 | g.49122959G>A | CA352694225 | LAMB2 | c.4318C>T (p.Leu1440Phe) n.627C>T | |
| 3 | g.49122959G>C | CA352694227 | LAMB2 | c.4318C>G (p.Leu1440Val) n.627C>G | |
| 3 | g.49122959G>T | CA352694229 | LAMB2 | c.4318C>A (p.Leu1440Ile) n.627C>A | gnomAD v4 |
| 3 | g.49122960G>A | CA433633912 | LAMB2 | c.4317C>T (p.Gly1439=) n.626C>T | |
| 3 | g.49122960G>C | CA433633913 | LAMB2 | c.4317C>G (p.Gly1439=) n.626C>G | |
| 3 | g.49122960G= | CA1363339771 | LAMB2 | c.4317C= (p.Gly1439=) n.626C= | |
| 3 | g.49122960G>T | CA433633914 | LAMB2 | c.4317C>A (p.Gly1439=) n.626C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122961C>A | CA352694238 | LAMB2 | c.4316G>T (p.Gly1439Val) n.625G>T | |
| 3 | g.49122961C>G | CA352694237 | LAMB2 | c.4316G>C (p.Gly1439Ala) n.625G>C | |
| 3 | g.49122961C>T | CA352694233 | LAMB2 | c.4316G>A (p.Gly1439Asp) n.625G>A | |
| 3 | g.49122965dup | CA2665695425 | LAMB2 | c.4316dup (p.Leu1440ProfsTer?) n.625dup | gnomAD v4 |
| 3 | g.49122965del | CA2665695426 | LAMB2 | c.4316del (p.Gly1439AlafsTer13) n.625del | gnomAD v4 |
| 3 | g.49122962C>A | CA352694240 | LAMB2 | c.4315G>T (p.Gly1439Cys) n.624G>T | |
| 3 | g.49122962C= | CA1363339773 | LAMB2 | c.4315G= (p.Gly1439=) n.624G= | |
| 3 | g.49122962C>G | CA352694253 | LAMB2 | c.4315G>C (p.Gly1439Arg) n.624G>C | |
| 3 | g.49122962C>T | CA2393811 | LAMB2 | c.4315G>A (p.Gly1439Ser) n.624G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122963C>A | CA433633915 | LAMB2 | c.4314G>T (p.Gly1438=) n.623G>T | |
| 3 | g.49122963C= | CA1363339775 | LAMB2 | c.4314G= (p.Gly1438=) n.623G= | |
| 3 | g.49122963C>G | CA433633916 | LAMB2 | c.4314G>C (p.Gly1438=) n.623G>C | dbSNP |
| 3 | g.49122963C>T | CA433633917 | LAMB2 | c.4314G>A (p.Gly1438=) n.623G>A | |
| 3 | g.49122964C>A | CA352694258 | LAMB2 | c.4313G>T (p.Gly1438Val) n.622G>T | gnomAD v4 |
| 3 | g.49122964C>G | CA352694261 | LAMB2 | c.4313G>C (p.Gly1438Ala) n.622G>C | |
| 3 | g.49122964C>T | CA352694260 | LAMB2 | c.4313G>A (p.Gly1438Glu) n.622G>A | |
| 3 | g.49122965C>A | CA352694263 | LAMB2 | c.4312G>T (p.Gly1438Trp) n.621G>T | |
| 3 | g.49122965C>G | CA352694268 | LAMB2 | c.4312G>C (p.Gly1438Arg) n.621G>C | gnomAD v4 |
| 3 | g.49122965C>T | CA352694275 | LAMB2 | c.4312G>A (p.Gly1438Arg) n.621G>A | gnomAD v4 |
| 3 | g.49122966A>C | CA352694280 | LAMB2 | c.4311T>G (p.Cys1437Trp) n.620T>G | |
| 3 | g.49122966A>G | CA433633918 | LAMB2 | c.4311T>C (p.Cys1437=) n.620T>C | |
| 3 | g.49122966A>T | CA352694283 | LAMB2 | c.4311T>A (p.Cys1437Ter) n.620T>A | |
| 3 | g.49122967C>A | CA352694291 | LAMB2 | c.4310G>T (p.Cys1437Phe) n.619G>T | |
| 3 | g.49122967C>G | CA352694293 | LAMB2 | c.4310G>C (p.Cys1437Ser) n.619G>C | |
| 3 | g.49122967C>T | CA352694296 | LAMB2 | c.4310G>A (p.Cys1437Tyr) n.619G>A | gnomAD v4 |
| 3 | g.49122968A>C | CA352694300 | LAMB2 | c.4309T>G (p.Cys1437Gly) n.618T>G | |
| 3 | g.49122968A>G | CA352694301 | LAMB2 | c.4309T>C (p.Cys1437Arg) n.618T>C | |
| 3 | g.49122968A>T | CA352694302 | LAMB2 | c.4309T>A (p.Cys1437Ser) n.618T>A | |
| 3 | g.49122969G>A | CA2393812 | LAMB2 | c.4308C>T (p.Arg1436=) n.617C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122969G>C | CA433633920 | LAMB2 | c.4308C>G (p.Arg1436=) n.617C>G | |
| 3 | g.49122969G= | CA1363339779 | LAMB2 | c.4308C= (p.Arg1436=) n.617C= | |
| 3 | g.49122969G>T | CA433633919 | LAMB2 | c.4308C>A (p.Arg1436=) n.617C>A | gnomAD v4 |
| 3 | g.49122970C>A | CA352694309 | LAMB2 | c.4307G>T (p.Arg1436Leu) n.616G>T | |
| 3 | g.49122970C= | CA1363339784 | LAMB2 | c.4307G= (p.Arg1436=) n.616G= | |
| 3 | g.49122970C>G | CA352694310 | LAMB2 | c.4307G>C (p.Arg1436Pro) n.616G>C | |
| 3 | g.49122970C>T | CA2393813 | LAMB2 | c.4307G>A (p.Arg1436His) n.616G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122971G>A | CA2393814 | LAMB2 | c.4306C>T (p.Arg1436Cys) n.615C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122971G>C | CA352694318 | LAMB2 | c.4306C>G (p.Arg1436Gly) n.615C>G | |
| 3 | g.49122971G= | CA1363339787 | LAMB2 | c.4306C= (p.Arg1436=) n.615C= | |
| 3 | g.49122971G>T | CA352694325 | LAMB2 | c.4306C>A (p.Arg1436Ser) n.615C>A | gnomAD v4 |
| 3 | g.49122972C>A | CA433633922 | LAMB2 | c.4305G>T (p.Pro1435=) n.614G>T | gnomAD v4 |
| 3 | g.49122972C= | CA1363339791 | LAMB2 | c.4305G= (p.Pro1435=) n.614G= | |
| 3 | g.49122972C>G | CA433633921 | LAMB2 | c.4305G>C (p.Pro1435=) n.614G>C | dbSNP |
| 3 | g.49122972C>T | CA2393815 | LAMB2 | c.4305G>A (p.Pro1435=) n.614G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122973G>A | CA2393816 | LAMB2 | c.4304C>T (p.Pro1435Leu) n.613C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122973G>C | CA352694330 | LAMB2 | c.4304C>G (p.Pro1435Arg) n.613C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49122973G= | CA1363339794 | LAMB2 | c.4304C= (p.Pro1435=) n.613C= | |
| 3 | g.49122973G>T | CA352694331 | LAMB2 | c.4304C>A (p.Pro1435Gln) n.613C>A | gnomAD v4 |
| 3 | g.49122974G>A | CA352694340 | LAMB2 | c.4303C>T (p.Pro1435Ser) n.612C>T | gnomAD v4 |
| 3 | g.49122974G>C | CA352694356 | LAMB2 | c.4303C>G (p.Pro1435Ala) n.612C>G | |
| 3 | g.49122974G>T | CA352694359 | LAMB2 | c.4303C>A (p.Pro1435Thr) n.612C>A | gnomAD v4 |
| 3 | g.49122975C>A | CA352694361 | LAMB2 | c.4302G>T (p.Gln1434His) n.611G>T | |
| 3 | g.49122975C= | CA1363339797 | LAMB2 | c.4302G= (p.Gln1434=) n.611G= | |
| 3 | g.49122975C>G | CA352694360 | LAMB2 | c.4302G>C (p.Gln1434His) n.611G>C | |
| 3 | g.49122975C>T | CA433633923 | LAMB2 | c.4302G>A (p.Gln1434=) n.611G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122976T>A | CA352694362 | LAMB2 | c.4301A>T (p.Gln1434Leu) n.610A>T | |
| 3 | g.49122976T>C | CA352694365 | LAMB2 | c.4301A>G (p.Gln1434Arg) n.610A>G | gnomAD v4 |
| 3 | g.49122976T>G | CA352694367 | LAMB2 | c.4301A>C (p.Gln1434Pro) n.610A>C | |
| 3 | g.49122977G>A | CA352694370 | LAMB2 | c.4300C>T (p.Gln1434Ter) n.609C>T | |
| 3 | g.49122977G>C | CA352694371 | LAMB2 | c.4300C>G (p.Gln1434Glu) n.609C>G | |
| 3 | g.49122977G>T | CA352694374 | LAMB2 | c.4300C>A (p.Gln1434Lys) n.609C>A | gnomAD v4 |
| 3 | g.49122978C>A | CA433633924 | LAMB2 | c.4299G>T (p.Gly1433=) n.608G>T | |
| 3 | g.49122978C= | CA1363339801 | LAMB2 | c.4299G= (p.Gly1433=) n.608G= | |
| 3 | g.49122978C>G | CA433633925 | LAMB2 | c.4299G>C (p.Gly1433=) n.608G>C | |
| 3 | g.49122978C>T | CA433633926 | LAMB2 | c.4299G>A (p.Gly1433=) n.608G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122979C>A | CA352694393 | LAMB2 | c.4298G>T (p.Gly1433Val) n.607G>T | |
| 3 | g.49122979C>G | CA352694380 | LAMB2 | c.4298G>C (p.Gly1433Ala) n.607G>C | |
| 3 | g.49122979C>T | CA352694389 | LAMB2 | c.4298G>A (p.Gly1433Glu) n.607G>A | |
| 3 | g.49122980C>A | CA352694399 | LAMB2 | c.4297G>T (p.Gly1433Trp) n.606G>T | gnomAD v4 |
| 3 | g.49122980C>G | CA352694403 | LAMB2 | c.4297G>C (p.Gly1433Arg) n.606G>C | |
| 3 | g.49122980C>T | CA352694408 | LAMB2 | c.4297G>A (p.Gly1433Arg) n.606G>A | |
| 3 | g.49122981A= | CA1363339807 | LAMB2 | c.4296T= (p.Asp1432=) n.605T= | |
| 3 | g.49122981A>C | CA352694412 | LAMB2 | c.4296T>G (p.Asp1432Glu) n.605T>G | dbSNP |
| 3 | g.49122981A>G | CA433633927 | LAMB2 | c.4296T>C (p.Asp1432=) n.605T>C | ClinVar |
| 3 | g.49122981A>T | CA352694434 | LAMB2 | c.4296T>A (p.Asp1432Glu) n.605T>A | |
| 3 | g.49122981_49122984delinsATCC | CA1363339808 | LAMB2 | c.4293_4296delinsGGAT (p.Glu1431=) n.602_605delinsGGAT | |
| 3 | g.49122982T>A | CA352694437 | LAMB2 | c.4295A>T (p.Asp1432Val) n.604A>T | |
| 3 | g.49122982T>C | CA352694442 | LAMB2 | c.4295A>G (p.Asp1432Gly) n.604A>G | |
| 3 | g.49122982T>G | CA352694439 | LAMB2 | c.4295A>C (p.Asp1432Ala) n.604A>C | |
| 3 | g.49122984_49122986del | CA543048569 | LAMB2 | c.4293_4295del (p.Glu1431del) n.602_604del | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122983C>A | CA352694443 | LAMB2 | c.4294G>T (p.Asp1432Tyr) n.603G>T | |
| 3 | g.49122983C>G | CA352694444 | LAMB2 | c.4294G>C (p.Asp1432His) n.603G>C | |
| 3 | g.49122983C>T | CA352694445 | LAMB2 | c.4294G>A (p.Asp1432Asn) n.603G>A | |
| 3 | g.49122984C>A | CA352694449 | LAMB2 | c.4293G>T (p.Glu1431Asp) n.602G>T | |
| 3 | g.49122984C>G | CA352694450 | LAMB2 | c.4293G>C (p.Glu1431Asp) n.602G>C | |
| 3 | g.49122984C>T | CA433633928 | LAMB2 | c.4293G>A (p.Glu1431=) n.602G>A | gnomAD v4 |
| 3 | g.49122985T>A | CA352694451 | LAMB2 | c.4292A>T (p.Glu1431Val) n.601A>T | |
| 3 | g.49122985T>C | CA352694457 | LAMB2 | c.4292A>G (p.Glu1431Gly) n.601A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122985T>G | CA352694460 | LAMB2 | c.4292A>C (p.Glu1431Ala) n.601A>C | |
| 3 | g.49122985T= | CA1363339813 | LAMB2 | c.4292A= (p.Glu1431=) n.601A= | |
| 3 | g.49122986C>A | CA352694465 | LAMB2 | c.4291G>T (p.Glu1431Ter) n.600G>T | |
| 3 | g.49122986C>G | CA352694479 | LAMB2 | c.4291G>C (p.Glu1431Gln) n.600G>C | |
| 3 | g.49122986C>T | CA352694482 | LAMB2 | c.4291G>A (p.Glu1431Lys) n.600G>A | |
| 3 | g.49122987A= | CA1363339818 | LAMB2 | c.4290T= (p.Asp1430=) n.599T= | |
| 3 | g.49122987A>C | CA352694483 | LAMB2 | c.4290T>G (p.Asp1430Glu) n.599T>G | |
| 3 | g.49122987A>G | CA433633929 | LAMB2 | c.4290T>C (p.Asp1430=) n.599T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122987A>T | CA352694484 | LAMB2 | c.4290T>A (p.Asp1430Glu) n.599T>A | |
| 3 | g.49122988T>A | CA352694485 | LAMB2 | c.4289A>T (p.Asp1430Val) n.598A>T | |
| 3 | g.49122988T>C | CA352694490 | LAMB2 | c.4289A>G (p.Asp1430Gly) n.598A>G | |
| 3 | g.49122988T>G | CA352694488 | LAMB2 | c.4289A>C (p.Asp1430Ala) n.598A>C | gnomAD v4 |
| 3 | g.49122989C>A | CA352694495 | LAMB2 | c.4288G>T (p.Asp1430Tyr) n.597G>T | gnomAD v4 |
| 3 | g.49122989C>G | CA352694497 | LAMB2 | c.4288G>C (p.Asp1430His) n.597G>C | |
| 3 | g.49122989C>T | CA352694502 | LAMB2 | c.4288G>A (p.Asp1430Asn) n.597G>A | |
| 3 | g.49122990T>A | CA433633930 | LAMB2 | c.4287A>T (p.Arg1429=) n.596A>T | |
| 3 | g.49122990T>C | CA433633932 | LAMB2 | c.4287A>G (p.Arg1429=) n.596A>G | gnomAD v4 |
| 3 | g.49122990T>G | CA433633931 | LAMB2 | c.4287A>C (p.Arg1429=) n.596A>C | |
| 3 | g.49122991C>A | CA352694507 | LAMB2 | c.4286G>T (p.Arg1429Leu) n.595G>T | |
| 3 | g.49122991C= | CA1363339822 | LAMB2 | c.4286G= (p.Arg1429=) n.595G= | |
| 3 | g.49122991C>G | CA352694508 | LAMB2 | c.4286G>C (p.Arg1429Pro) n.595G>C | gnomAD v4 |
| 3 | g.49122991C>T | CA2393817 | LAMB2 | c.4286G>A (p.Arg1429Gln) n.595G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122992G>A | CA352694514 | LAMB2 | c.4285C>T (p.Arg1429Ter) n.594C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122992G>C | CA352694520 | LAMB2 | c.4285C>G (p.Arg1429Gly) n.594C>G | |
| 3 | g.49122992G= | CA1363339827 | LAMB2 | c.4285C= (p.Arg1429=) n.594C= | |
| 3 | g.49122992G>T | CA433633933 | LAMB2 | c.4285C>A (p.Arg1429=) n.594C>A | dbSNP gnomAD v4 |
| 3 | g.49122993A>C | CA352694534 | LAMB2 | c.4284T>G (p.Cys1428Trp) n.593T>G | |
| 3 | g.49122993A>G | CA433633934 | LAMB2 | c.4284T>C (p.Cys1428=) n.593T>C | gnomAD v4 |
| 3 | g.49122993A>T | CA352694538 | LAMB2 | c.4284T>A (p.Cys1428Ter) n.593T>A | |
| 3 | g.49122994C>A | CA352694543 | LAMB2 | c.4283G>T (p.Cys1428Phe) n.592G>T | |
| 3 | g.49122994C>G | CA352694545 | LAMB2 | c.4283G>C (p.Cys1428Ser) n.592G>C | |
| 3 | g.49122994C>T | CA352694548 | LAMB2 | c.4283G>A (p.Cys1428Tyr) n.592G>A | |
| 3 | g.49122995A>C | CA352694564 | LAMB2 | c.4282T>G (p.Cys1428Gly) n.591T>G | |
| 3 | g.49122995A>G | CA352694577 | LAMB2 | c.4282T>C (p.Cys1428Arg) n.591T>C | |
| 3 | g.49122995A>T | CA352694571 | LAMB2 | c.4282T>A (p.Cys1428Ser) n.591T>A | |
| 3 | g.49122996G>A | CA433633935 | LAMB2 | c.4281C>T (p.Gly1427=) n.590C>T | gnomAD v4 |
| 3 | g.49122996G>C | CA433633937 | LAMB2 | c.4281C>G (p.Gly1427=) n.590C>G | |
| 3 | g.49122996G>T | CA433633936 | LAMB2 | c.4281C>A (p.Gly1427=) n.590C>A | gnomAD v4 |
| 3 | g.49122997C>A | CA352694586 | LAMB2 | c.4280G>T (p.Gly1427Val) n.589G>T | |
| 3 | g.49122997C>G | CA352694589 | LAMB2 | c.4280G>C (p.Gly1427Ala) n.589G>C | |
| 3 | g.49122997C>T | CA352694591 | LAMB2 | c.4280G>A (p.Gly1427Asp) n.589G>A | gnomAD v4 |
| 3 | g.49122998C>A | CA352694599 | LAMB2 | c.4279G>T (p.Gly1427Cys) n.588G>T | gnomAD v4 |
| 3 | g.49122998C= | CA1363339830 | LAMB2 | c.4279G= (p.Gly1427=) n.588G= | |
| 3 | g.49122998C>G | CA352694605 | LAMB2 | c.4279G>C (p.Gly1427Arg) n.588G>C | |
| 3 | g.49122998C>T | CA2393818 | LAMB2 | c.4279G>A (p.Gly1427Ser) n.588G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49122999G>A | CA2393819 | LAMB2 | c.4278C>T (p.Ala1426=) n.587C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122999G>C | CA433633939 | LAMB2 | c.4278C>G (p.Ala1426=) n.587C>G | |
| 3 | g.49122999G= | CA1363339834 | LAMB2 | c.4278C= (p.Ala1426=) n.587C= | |
| 3 | g.49122999G>T | CA433633940 | LAMB2 | c.4278C>A (p.Ala1426=) n.587C>A | gnomAD v4 |
| 3 | g.49123000G>A | CA352694626 | LAMB2 | c.4277C>T (p.Ala1426Val) n.586C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123000G>C | CA352694629 | LAMB2 | c.4277C>G (p.Ala1426Gly) n.586C>G | |
| 3 | g.49123000G= | CA1363339837 | LAMB2 | c.4277C= (p.Ala1426=) n.586C= | |
| 3 | g.49123000G>T | CA352694636 | LAMB2 | c.4277C>A (p.Ala1426Asp) n.586C>A | gnomAD v4 |
| 3 | g.49123001C>A | CA352694653 | LAMB2 | c.4276G>T (p.Ala1426Ser) n.585G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123001C= | CA1363339847 | LAMB2 | c.4276G= (p.Ala1426=) n.585G= | |
| 3 | g.49123001C>G | CA352694648 | LAMB2 | c.4276G>C (p.Ala1426Pro) n.585G>C | |
| 3 | g.49123001C>T | CA2393820 | LAMB2 | c.4276G>A (p.Ala1426Thr) n.585G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123001dup | CA658820885 | LAMB2 | c.4276dup (p.Ala1426GlyfsTer6) n.585dup | ClinVar dbSNP |
| 3 | g.49123002A>C | CA433633944 | LAMB2 | c.4275T>G (p.Gly1425=) n.584T>G | |
| 3 | g.49123002A>G | CA433633945 | LAMB2 | c.4275T>C (p.Gly1425=) n.584T>C | |
| 3 | g.49123002A>T | CA433633946 | LAMB2 | c.4275T>A (p.Gly1425=) n.584T>A | |
| 3 | g.49123003C>A | CA352694658 | LAMB2 | c.4274G>T (p.Gly1425Val) n.583G>T | COSMIC |
| 3 | g.49123003C= | CA1363339853 | LAMB2 | c.4274G= (p.Gly1425=) n.583G= | |
| 3 | g.49123003C>G | CA2393821 | LAMB2 | c.4274G>C (p.Gly1425Ala) n.583G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123003C>T | CA352694681 | LAMB2 | c.4274G>A (p.Gly1425Asp) n.583G>A | gnomAD v4 |
| 3 | g.49123004C>A | CA352694702 | LAMB2 | c.4273G>T (p.Gly1425Cys) n.582G>T | gnomAD v4 |
| 3 | g.49123004C>G | CA352694708 | LAMB2 | c.4273G>C (p.Gly1425Arg) n.582G>C | |
| 3 | g.49123004C>T | CA352694712 | LAMB2 | c.4273G>A (p.Gly1425Ser) n.582G>A | |
| 3 | g.49123005C>A | CA433633950 | LAMB2 | c.4272G>T (p.Gly1424=) n.581G>T | |
| 3 | g.49123005C>G | CA433633948 | LAMB2 | c.4272G>C (p.Gly1424=) n.581G>C | |
| 3 | g.49123005C>T | CA433633949 | LAMB2 | c.4272G>A (p.Gly1424=) n.581G>A | gnomAD v4 |
| 3 | g.49123006C>A | CA352694716 | LAMB2 | c.4271G>T (p.Gly1424Val) n.580G>T | |
| 3 | g.49123006C>G | CA352694713 | LAMB2 | c.4271G>C (p.Gly1424Ala) n.580G>C | |
| 3 | g.49123006C>T | CA352694714 | LAMB2 | c.4271G>A (p.Gly1424Glu) n.580G>A | |
| 3 | g.49123007C>A | CA2393822 | LAMB2 | c.4270G>T (p.Gly1424Trp) n.579G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123007C= | CA1363339856 | LAMB2 | c.4270G= (p.Gly1424=) n.579G= | |
| 3 | g.49123007C>G | CA352694728 | LAMB2 | c.4270G>C (p.Gly1424Arg) n.579G>C | |
| 3 | g.49123007C>T | CA2393823 | LAMB2 | c.4270G>A (p.Gly1424Arg) n.579G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123008A= | CA1363339861 | LAMB2 | c.4269T= (p.Cys1423=) n.578T= | |
| 3 | g.49123008A>C | CA352694729 | LAMB2 | c.4269T>G (p.Cys1423Trp) n.578T>G | |
| 3 | g.49123008A>G | CA433633952 | LAMB2 | c.4269T>C (p.Cys1423=) n.578T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123008A>T | CA352694731 | LAMB2 | c.4269T>A (p.Cys1423Ter) n.578T>A | |
| 3 | g.49123009C>A | CA352694735 | LAMB2 | c.4268G>T (p.Cys1423Phe) n.577G>T | |
| 3 | g.49123009C= | CA1363339864 | LAMB2 | c.4268G= (p.Cys1423=) n.577G= | |
| 3 | g.49123009C>G | CA352694744 | LAMB2 | c.4268G>C (p.Cys1423Ser) n.577G>C | |
| 3 | g.49123009C>T | CA352694738 | LAMB2 | c.4268G>A (p.Cys1423Tyr) n.577G>A | dbSNP gnomAD v2 |
| 3 | g.49123010A>C | CA352694749 | LAMB2 | c.4267T>G (p.Cys1423Gly) n.576T>G | |
| 3 | g.49123010A>G | CA352694754 | LAMB2 | c.4267T>C (p.Cys1423Arg) n.576T>C | |
| 3 | g.49123010A>T | CA352694756 | LAMB2 | c.4267T>A (p.Cys1423Ser) n.576T>A | |
| 3 | g.49123011del | CA2586972500 | LAMB2 | c.4267del (p.Cys1423ValfsTer29) n.576del | |
| 3 | g.49123011A>C | CA433633955 | LAMB2 | c.4266T>G (p.Pro1422=) n.575T>G | |
| 3 | g.49123011A>G | CA433633954 | LAMB2 | c.4266T>C (p.Pro1422=) n.575T>C | |
| 3 | g.49123011A>T | CA433633956 | LAMB2 | c.4266T>A (p.Pro1422=) n.575T>A | |
| 3 | g.49123012G>A | CA74476672 | LAMB2 | c.4265C>T (p.Pro1422Leu) n.574C>T | dbSNP gnomAD v2 |
| 3 | g.49123012G>C | CA352694764 | LAMB2 | c.4265C>G (p.Pro1422Arg) n.574C>G | |
| 3 | g.49123012G= | CA1363339868 | LAMB2 | c.4265C= (p.Pro1422=) n.574C= | |
| 3 | g.49123012G>T | CA352694768 | LAMB2 | c.4265C>A (p.Pro1422His) n.574C>A | gnomAD v4 |
| 3 | g.49123013G>A | CA352694773 | LAMB2 | c.4264C>T (p.Pro1422Ser) n.573C>T | |
| 3 | g.49123013G>C | CA352694776 | LAMB2 | c.4264C>G (p.Pro1422Ala) n.573C>G | |
| 3 | g.49123013G>T | CA352694778 | LAMB2 | c.4264C>A (p.Pro1422Thr) n.573C>A | gnomAD v4 |
| 3 | g.49123014G>A | CA433633960 | LAMB2 | c.4263C>T (p.Ser1421=) n.572C>T | gnomAD v4 |
| 3 | g.49123014G>C | CA352694782 | LAMB2 | c.4263C>G (p.Ser1421Arg) n.572C>G | gnomAD v4 |
| 3 | g.49123014G>T | CA352694784 | LAMB2 | c.4263C>A (p.Ser1421Arg) n.572C>A | gnomAD v4 |
| 3 | g.49123015C>A | CA352694789 | LAMB2 | c.4262G>T (p.Ser1421Ile) n.571G>T | gnomAD v4 |
| 3 | g.49123015C>G | CA352694790 | LAMB2 | c.4262G>C (p.Ser1421Thr) n.571G>C | |
| 3 | g.49123015C>T | CA352694787 | LAMB2 | c.4262G>A (p.Ser1421Asn) n.571G>A | |
| 3 | g.49123016T>A | CA352694791 | LAMB2 | c.4261A>T (p.Ser1421Cys) n.570A>T | |
| 3 | g.49123016T>C | CA352694793 | LAMB2 | c.4261A>G (p.Ser1421Gly) n.570A>G | dbSNP |
| 3 | g.49123016T>G | CA352694794 | LAMB2 | c.4261A>C (p.Ser1421Arg) n.570A>C | |
| 3 | g.49123016T= | CA1363339873 | LAMB2 | c.4261A= (p.Ser1421=) n.570A= | |
| 3 | g.49123017T>A | CA433633962 | LAMB2 | c.4260A>T (p.Thr1420=) n.569A>T | |
| 3 | g.49123017T>C | CA433633963 | LAMB2 | c.4260A>G (p.Thr1420=) n.569A>G | |
| 3 | g.49123017T>G | CA433633964 | LAMB2 | c.4260A>C (p.Thr1420=) n.569A>C | |
| 3 | g.49123018G>A | CA352694801 | LAMB2 | c.4259C>T (p.Thr1420Ile) n.568C>T | dbSNP |
| 3 | g.49123018G>C | CA352694804 | LAMB2 | c.4259C>G (p.Thr1420Arg) n.568C>G | |
| 3 | g.49123018G= | CA1363339876 | LAMB2 | c.4259C= (p.Thr1420=) n.568C= | |
| 3 | g.49123018G>T | CA352694806 | LAMB2 | c.4259C>A (p.Thr1420Lys) n.568C>A | gnomAD v4 |
| 3 | g.49123019T>A | CA352694808 | LAMB2 | c.4258A>T (p.Thr1420Ser) n.567A>T | |
| 3 | g.49123019T>C | CA352694812 | LAMB2 | c.4258A>G (p.Thr1420Ala) n.567A>G | |
| 3 | g.49123019T>G | CA352694815 | LAMB2 | c.4258A>C (p.Thr1420Pro) n.567A>C | |
| 3 | g.49123020A= | CA1363339881 | LAMB2 | c.4257T= (p.Ala1419=) n.566T= | |
| 3 | g.49123020A>C | CA433633965 | LAMB2 | c.4257T>G (p.Ala1419=) n.566T>G | |
| 3 | g.49123020A>G | CA2393824 | LAMB2 | c.4257T>C (p.Ala1419=) n.566T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123020A>T | CA433633966 | LAMB2 | c.4257T>A (p.Ala1419=) n.566T>A | |
| 3 | g.49123021G>A | CA2393825 | LAMB2 | c.4256C>T (p.Ala1419Val) n.565C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123021G>C | CA352694820 | LAMB2 | c.4256C>G (p.Ala1419Gly) n.565C>G | gnomAD v4 |
| 3 | g.49123021G= | CA1363339887 | LAMB2 | c.4256C= (p.Ala1419=) n.565C= | |
| 3 | g.49123021G>T | CA352694821 | LAMB2 | c.4256C>A (p.Ala1419Asp) n.565C>A | gnomAD v4 |
| 3 | g.49123022C>A | CA352694825 | LAMB2 | c.4255G>T (p.Ala1419Ser) n.564G>T | |
| 3 | g.49123022C>G | CA352694824 | LAMB2 | c.4255G>C (p.Ala1419Pro) n.564G>C | |
| 3 | g.49123022C>T | CA352694822 | LAMB2 | c.4255G>A (p.Ala1419Thr) n.564G>A | gnomAD v4 |
| 3 | g.49123023A>C | CA352694828 | LAMB2 | c.4254T>G (p.Cys1418Trp) n.563T>G | |
| 3 | g.49123023A>G | CA433633968 | LAMB2 | c.4254T>C (p.Cys1418=) n.563T>C | |
| 3 | g.49123023A>T | CA352694830 | LAMB2 | c.4254T>A (p.Cys1418Ter) n.563T>A | |
| 3 | g.49123024C>A | CA352694833 | LAMB2 | c.4253G>T (p.Cys1418Phe) n.562G>T | |
| 3 | g.49123024C>G | CA352694836 | LAMB2 | c.4253G>C (p.Cys1418Ser) n.562G>C | |
| 3 | g.49123024C>T | CA352694838 | LAMB2 | c.4253G>A (p.Cys1418Tyr) n.562G>A | |
| 3 | g.49123025A= | CA1363339890 | LAMB2 | c.4252T= (p.Cys1418=) n.561T= | |
| 3 | g.49123025A>C | CA352694839 | LAMB2 | c.4252T>G (p.Cys1418Gly) n.561T>G | |
| 3 | g.49123025A>G | CA2393826 | LAMB2 | c.4252T>C (p.Cys1418Arg) n.561T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123025A>T | CA352694845 | LAMB2 | c.4252T>A (p.Cys1418Ser) n.561T>A | |
| 3 | g.49123026G>A | CA433633974 | LAMB2 | c.4251C>T (p.Pro1417=) n.560C>T | COSMIC |
| 3 | g.49123026G>C | CA433633973 | LAMB2 | c.4251C>G (p.Pro1417=) n.560C>G | |
| 3 | g.49123026G>T | CA433633972 | LAMB2 | c.4251C>A (p.Pro1417=) n.560C>A | |
| 3 | g.49123027G>A | CA352694856 | LAMB2 | c.4250C>T (p.Pro1417Leu) n.559C>T | gnomAD v4 |
| 3 | g.49123027G>C | CA352694861 | LAMB2 | c.4250C>G (p.Pro1417Arg) n.559C>G | gnomAD v4 |
| 3 | g.49123027G>T | CA352694867 | LAMB2 | c.4250C>A (p.Pro1417His) n.559C>A | gnomAD v4 |
| 3 | g.49123028G>A | CA352694871 | LAMB2 | c.4249C>T (p.Pro1417Ser) n.558C>T | dbSNP |
| 3 | g.49123028G>C | CA352694875 | LAMB2 | c.4249C>G (p.Pro1417Ala) n.558C>G | |
| 3 | g.49123028G= | CA1363339893 | LAMB2 | c.4249C= (p.Pro1417=) n.558C= | |
| 3 | g.49123028G>T | CA352694880 | LAMB2 | c.4249C>A (p.Pro1417Thr) n.558C>A | gnomAD v4 |
| 3 | g.49123029T>A | CA433633976 | LAMB2 | c.4248A>T (p.Ala1416=) n.557A>T | gnomAD v4 |
| 3 | g.49123029T>C | CA433633977 | LAMB2 | c.4248A>G (p.Ala1416=) n.557A>G | |
| 3 | g.49123029T>G | CA433633978 | LAMB2 | c.4248A>C (p.Ala1416=) n.557A>C | |
| 3 | g.49123030G>A | CA352694896 | LAMB2 | c.4247C>T (p.Ala1416Val) n.556C>T | dbSNP gnomAD v4 |
| 3 | g.49123030G>C | CA352694889 | LAMB2 | c.4247C>G (p.Ala1416Gly) n.556C>G | |
| 3 | g.49123030G= | CA1363339895 | LAMB2 | c.4247C= (p.Ala1416=) n.556C= | |
| 3 | g.49123030G>T | CA352694887 | LAMB2 | c.4247C>A (p.Ala1416Glu) n.556C>A | gnomAD v4 |
| 3 | g.49123031C>A | CA352694900 | LAMB2 | c.4246G>T (p.Ala1416Ser) n.555G>T | |
| 3 | g.49123031C>G | CA352694911 | LAMB2 | c.4246G>C (p.Ala1416Pro) n.555G>C | |
| 3 | g.49123031C>T | CA352694915 | LAMB2 | c.4246G>A (p.Ala1416Thr) n.555G>A | gnomAD v4 |
| 3 | g.49123032A= | CA1363339898 | LAMB2 | c.4245T= (p.Asp1415=) n.554T= | |
| 3 | g.49123032A>C | CA352694938 | LAMB2 | c.4245T>G (p.Asp1415Glu) n.554T>G | |
| 3 | g.49123032A>G | CA2393827 | LAMB2 | c.4245T>C (p.Asp1415=) n.554T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123032A>T | CA352694939 | LAMB2 | c.4245T>A (p.Asp1415Glu) n.554T>A | |
| 3 | g.49123033T>A | CA352694950 | LAMB2 | c.4244A>T (p.Asp1415Val) n.553A>T | |
| 3 | g.49123033T>C | CA352694947 | LAMB2 | c.4244A>G (p.Asp1415Gly) n.553A>G | |
| 3 | g.49123033T>G | CA352694944 | LAMB2 | c.4244A>C (p.Asp1415Ala) n.553A>C | |
| 3 | g.49123034C>A | CA352694957 | LAMB2 | c.4243G>T (p.Asp1415Tyr) n.552G>T | |
| 3 | g.49123034C= | CA1363339901 | LAMB2 | c.4243G= (p.Asp1415=) n.552G= | |
| 3 | g.49123034C>G | CA352694962 | LAMB2 | c.4243G>C (p.Asp1415His) n.552G>C | |
| 3 | g.49123034C>T | CA352694967 | LAMB2 | c.4243G>A (p.Asp1415Asn) n.552G>A | dbSNP gnomAD v2 |
| 3 | g.49123035C>A | CA433633981 | LAMB2 | c.4242G>T (p.Gly1414=) n.551G>T | |
| 3 | g.49123035C>G | CA433633983 | LAMB2 | c.4242G>C (p.Gly1414=) n.551G>C | |
| 3 | g.49123035C>T | CA433633985 | LAMB2 | c.4242G>A (p.Gly1414=) n.551G>A | gnomAD v4 |
| 3 | g.49123036C>A | CA352694980 | LAMB2 | c.4241G>T (p.Gly1414Val) n.550G>T | |
| 3 | g.49123036C= | CA1363339903 | LAMB2 | c.4241G= (p.Gly1414=) n.550G= | |
| 3 | g.49123036C>G | CA352694991 | LAMB2 | c.4241G>C (p.Gly1414Ala) n.550G>C | gnomAD v4 |
| 3 | g.49123036C>T | CA352694993 | LAMB2 | c.4241G>A (p.Gly1414Glu) n.550G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123037C>A | CA352695007 | LAMB2 | c.4240G>T (p.Gly1414Trp) n.549G>T | |
| 3 | g.49123037C= | CA1363339905 | LAMB2 | c.4240G= (p.Gly1414=) n.549G= | |
| 3 | g.49123037C>G | CA352695015 | LAMB2 | c.4240G>C (p.Gly1414Arg) n.549G>C | gnomAD v4 |
| 3 | g.49123037C>T | CA352695010 | LAMB2 | c.4240G>A (p.Gly1414Arg) n.549G>A | dbSNP gnomAD v4 |
| 3 | g.49123038del | CA2586972501 | LAMB2 | c.4239del (p.Asp1415MetfsTer?) n.548del | |
| 3 | g.49123038T>A | CA433633986 | LAMB2 | c.4239A>T (p.Pro1413=) n.548A>T | |
| 3 | g.49123038T>C | CA433633987 | LAMB2 | c.4239A>G (p.Pro1413=) n.548A>G | gnomAD v4 |
| 3 | g.49123038T>G | CA433633988 | LAMB2 | c.4239A>C (p.Pro1413=) n.548A>C | |
| 3 | g.49123039G>A | CA352695020 | LAMB2 | c.4238C>T (p.Pro1413Leu) n.547C>T | |
| 3 | g.49123039G>C | CA352695025 | LAMB2 | c.4238C>G (p.Pro1413Arg) n.547C>G | |
| 3 | g.49123039G>T | CA352695030 | LAMB2 | c.4238C>A (p.Pro1413Gln) n.547C>A | |
| 3 | g.49123040G>A | CA352695035 | LAMB2 | c.4237C>T (p.Pro1413Ser) n.546C>T | |
| 3 | g.49123040G>C | CA352695039 | LAMB2 | c.4237C>G (p.Pro1413Ala) n.546C>G | |
| 3 | g.49123040G>T | CA352695041 | LAMB2 | c.4237C>A (p.Pro1413Thr) n.546C>A | |
| 3 | g.49123041T>A | CA433633990 | LAMB2 | c.4236A>T (p.Ala1412=) n.545A>T | |
| 3 | g.49123041T>C | CA433633991 | LAMB2 | c.4236A>G (p.Ala1412=) n.545A>G | |
| 3 | g.49123041T>G | CA433633992 | LAMB2 | c.4236A>C (p.Ala1412=) n.545A>C | |
| 3 | g.49123042G>A | CA352695046 | LAMB2 | c.4235C>T (p.Ala1412Val) n.544C>T | dbSNP |
| 3 | g.49123042G>C | CA352695050 | LAMB2 | c.4235C>G (p.Ala1412Gly) n.544C>G | |
| 3 | g.49123042G= | CA1363339908 | LAMB2 | c.4235C= (p.Ala1412=) n.544C= | |
| 3 | g.49123042G>T | CA352695051 | LAMB2 | c.4235C>A (p.Ala1412Glu) n.544C>A | gnomAD v4 |