| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.49123054_49123132del | CA2756174323 | LAMB2 | c.4224+4_4227del n.458_536del | |
| 3 | g.49123119A>C | CA2665695481 | LAMB2 | c.4224+13T>G (n.4224+13T>G) n.467T>G | gnomAD v4 |
| 3 | g.49123119A>T | CA2577594216 | LAMB2 | c.4224+13T>A (n.4224+13T>A) n.467T>A | |
| 3 | g.49123120C>T | CA2665695482 | LAMB2 | c.4224+12G>A (n.4224+12G>A) n.466G>A | gnomAD v4 |
| 3 | g.49123123C= | CA1363339982 | LAMB2 | c.4224+9G= (n.4224+9G=) n.463G= | |
| 3 | g.49123123C>G | CA1363339983 | LAMB2 | c.4224+9G>C (n.4224+9G>C) n.463G>C | dbSNP |
| 3 | g.49123124A= | CA1363339984 | LAMB2 | c.4224+8T= (n.4224+8T=) n.462T= | |
| 3 | g.49123124A>G | CA543048575 | LAMB2 | c.4224+8T>C (n.4224+8T>C) n.462T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123130A>C | CA352695256 | LAMB2 | c.4224+2T>G (n.4224+2T>G) n.456T>G | |
| 3 | g.49123130A>G | CA352695257 | LAMB2 | c.4224+2T>C (n.4224+2T>C) n.456T>C | |
| 3 | g.49123130A>T | CA352695258 | LAMB2 | c.4224+2T>A (n.4224+2T>A) n.456T>A | |
| 3 | g.49123131C>A | CA352695261 | LAMB2 | c.4224+1G>T (n.4224+1G>T) n.455G>T | |
| 3 | g.49123131C>G | CA352695267 | LAMB2 | c.4224+1G>C (n.4224+1G>C) n.455G>C | |
| 3 | g.49123131C>T | CA352695263 | LAMB2 | c.4224+1G>A (n.4224+1G>A) n.455G>A | |
| 3 | g.49123132C>A | CA433634015 | LAMB2 | c.4224G>T (p.Leu1408=) n.454G>T | |
| 3 | g.49123132C>G | CA433634014 | LAMB2 | c.4224G>C (p.Leu1408=) n.454G>C | |
| 3 | g.49123132C>T | CA433634013 | LAMB2 | c.4224G>A (p.Leu1408=) n.454G>A | |
| 3 | g.49123133A= | CA1363339986 | LAMB2 | c.4223T= (p.Leu1408=) n.453T= | |
| 3 | g.49123133A>C | CA352695268 | LAMB2 | c.4223T>G (p.Leu1408Arg) n.453T>G | |
| 3 | g.49123133A>G | CA352695269 | LAMB2 | c.4223T>C (p.Leu1408Pro) n.453T>C | dbSNP gnomAD v4 |
| 3 | g.49123133A>T | CA352695271 | LAMB2 | c.4223T>A (p.Leu1408Gln) n.453T>A | |
| 3 | g.49123134G>A | CA2393847 | LAMB2 | c.4222C>T (p.Leu1408=) n.452C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123134G>C | CA352695284 | LAMB2 | c.4222C>G (p.Leu1408Val) n.452C>G | |
| 3 | g.49123134G= | CA1363339987 | LAMB2 | c.4222C= (p.Leu1408=) n.452C= | |
| 3 | g.49123134G>T | CA352695286 | LAMB2 | c.4222C>A (p.Leu1408Met) n.452C>A | |
| 3 | g.49123135C>A | CA352695289 | LAMB2 | c.4221G>T (p.Glu1407Asp) n.451G>T | |
| 3 | g.49123135C>G | CA352695291 | LAMB2 | c.4221G>C (p.Glu1407Asp) n.451G>C | |
| 3 | g.49123135C>T | CA433634017 | LAMB2 | c.4221G>A (p.Glu1407=) n.451G>A | |
| 3 | g.49123136T>A | CA352695297 | LAMB2 | c.4220A>T (p.Glu1407Val) n.450A>T | |
| 3 | g.49123136T>C | CA352695301 | LAMB2 | c.4220A>G (p.Glu1407Gly) n.450A>G | |
| 3 | g.49123136T>G | CA352695302 | LAMB2 | c.4220A>C (p.Glu1407Ala) n.450A>C | |
| 3 | g.49123137C>A | CA352695308 | LAMB2 | c.4219G>T (p.Glu1407Ter) n.449G>T | |
| 3 | g.49123137C>G | CA352695332 | LAMB2 | c.4219G>C (p.Glu1407Gln) n.449G>C | |
| 3 | g.49123137C>T | CA352695322 | LAMB2 | c.4219G>A (p.Glu1407Lys) n.449G>A | |
| 3 | g.49123138A>C | CA352695337 | LAMB2 | c.4218T>G (p.Asn1406Lys) n.448T>G | gnomAD v4 |
| 3 | g.49123138A>G | CA433634022 | LAMB2 | c.4218T>C (p.Asn1406=) n.448T>C | |
| 3 | g.49123138A>T | CA352695345 | LAMB2 | c.4218T>A (p.Asn1406Lys) n.448T>A | |
| 3 | g.49123139T>A | CA352695351 | LAMB2 | c.4217A>T (p.Asn1406Ile) n.447A>T | |
| 3 | g.49123139T>C | CA352695359 | LAMB2 | c.4217A>G (p.Asn1406Ser) n.447A>G | gnomAD v4 |
| 3 | g.49123139T>G | CA352695356 | LAMB2 | c.4217A>C (p.Asn1406Thr) n.447A>C | |
| 3 | g.49123140T>A | CA352695373 | LAMB2 | c.4216A>T (p.Asn1406Tyr) n.446A>T | |
| 3 | g.49123140T>C | CA352695376 | LAMB2 | c.4216A>G (p.Asn1406Asp) n.446A>G | |
| 3 | g.49123140T>G | CA352695379 | LAMB2 | c.4216A>C (p.Asn1406His) n.446A>C | |
| 3 | g.49123141T>A | CA433634026 | LAMB2 | c.4215A>T (p.Ile1405=) n.445A>T | |
| 3 | g.49123141T>C | CA352695384 | LAMB2 | c.4215A>G (p.Ile1405Met) n.445A>G | |
| 3 | g.49123141T>G | CA433634027 | LAMB2 | c.4215A>C (p.Ile1405=) n.445A>C | |
| 3 | g.49123142A>C | CA352695389 | LAMB2 | c.4214T>G (p.Ile1405Arg) n.444T>G | |
| 3 | g.49123142A>G | CA352695391 | LAMB2 | c.4214T>C (p.Ile1405Thr) n.444T>C | |
| 3 | g.49123142A>T | CA352695394 | LAMB2 | c.4214T>A (p.Ile1405Lys) n.444T>A | |
| 3 | g.49123143T>A | CA352695398 | LAMB2 | c.4213A>T (p.Ile1405Leu) n.443A>T | |
| 3 | g.49123143T>C | CA352695403 | LAMB2 | c.4213A>G (p.Ile1405Val) n.443A>G | gnomAD v4 |
| 3 | g.49123143T>G | CA352695404 | LAMB2 | c.4213A>C (p.Ile1405Leu) n.443A>C | |
| 3 | g.49123147_49123150del | CA2665695483 | LAMB2 | c.4210_4213del (p.Asp1404Ter) n.440_443del | gnomAD v4 |
| 3 | g.49123144G>A | CA433634029 | LAMB2 | c.4212C>T (p.Asp1404=) n.442C>T | |
| 3 | g.49123144G>C | CA352695406 | LAMB2 | c.4212C>G (p.Asp1404Glu) n.442C>G | gnomAD v4 |
| 3 | g.49123144G= | CA1363339989 | LAMB2 | c.4212C= (p.Asp1404=) n.442C= | |
| 3 | g.49123144G>T | CA2393848 | LAMB2 | c.4212C>A (p.Asp1404Glu) n.442C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123145T>A | CA352695417 | LAMB2 | c.4211A>T (p.Asp1404Val) n.441A>T | |
| 3 | g.49123145T>C | CA352695423 | LAMB2 | c.4211A>G (p.Asp1404Gly) n.441A>G | |
| 3 | g.49123145T>G | CA352695420 | LAMB2 | c.4211A>C (p.Asp1404Ala) n.441A>C | |
| 3 | g.49123146_49123147del | CA645538934 | LAMB2 | c.4210_4211del (p.Asp1404HisfsTer3) n.440_441del | COSMIC |
| 3 | g.49123146C>A | CA352695432 | LAMB2 | c.4210G>T (p.Asp1404Tyr) n.440G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123146C= | CA1363339991 | LAMB2 | c.4210G= (p.Asp1404=) n.440G= | |
| 3 | g.49123146C>G | CA352695435 | LAMB2 | c.4210G>C (p.Asp1404His) n.440G>C | |
| 3 | g.49123146C>T | CA352695438 | LAMB2 | c.4210G>A (p.Asp1404Asn) n.440G>A | |
| 3 | g.49123147T>A | CA433634033 | LAMB2 | c.4209A>T (p.Thr1403=) n.439A>T | |
| 3 | g.49123147T>C | CA433634034 | LAMB2 | c.4209A>G (p.Thr1403=) n.439A>G | |
| 3 | g.49123147T>G | CA433634035 | LAMB2 | c.4209A>C (p.Thr1403=) n.439A>C | |
| 3 | g.49123148G>A | CA352695450 | LAMB2 | c.4208C>T (p.Thr1403Ile) n.438C>T | gnomAD v4 |
| 3 | g.49123148G>C | CA352695453 | LAMB2 | c.4208C>G (p.Thr1403Arg) n.438C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123148G= | CA1363339993 | LAMB2 | c.4208C= (p.Thr1403=) n.438C= | |
| 3 | g.49123148G>T | CA352695454 | LAMB2 | c.4208C>A (p.Thr1403Lys) n.438C>A | dbSNP gnomAD v2 |
| 3 | g.49123149T>A | CA352695457 | LAMB2 | c.4207A>T (p.Thr1403Ser) n.437A>T | |
| 3 | g.49123149T>C | CA2393849 | LAMB2 | c.4207A>G (p.Thr1403Ala) n.437A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123149T>G | CA352695465 | LAMB2 | c.4207A>C (p.Thr1403Pro) n.437A>C | |
| 3 | g.49123149T= | CA1363339995 | LAMB2 | c.4207A= (p.Thr1403=) n.437A= | |
| 3 | g.49123150C>A | CA433634037 | LAMB2 | c.4206G>T (p.Leu1402=) n.436G>T | |
| 3 | g.49123150C= | CA1363339997 | LAMB2 | c.4206G= (p.Leu1402=) n.436G= | |
| 3 | g.49123150C>G | CA433634038 | LAMB2 | c.4206G>C (p.Leu1402=) n.436G>C | |
| 3 | g.49123150C>T | CA2393850 | LAMB2 | c.4206G>A (p.Leu1402=) n.436G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123151A>C | CA352695474 | LAMB2 | c.4205T>G (p.Leu1402Arg) n.435T>G | |
| 3 | g.49123151A>G | CA352695478 | LAMB2 | c.4205T>C (p.Leu1402Pro) n.435T>C | |
| 3 | g.49123151A>T | CA352695471 | LAMB2 | c.4205T>A (p.Leu1402Gln) n.435T>A | |
| 3 | g.49123152G>A | CA74476826 | LAMB2 | c.4204C>T (p.Leu1402=) n.434C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123152G>C | CA352695495 | LAMB2 | c.4204C>G (p.Leu1402Val) n.434C>G | |
| 3 | g.49123152G= | CA1363339999 | LAMB2 | c.4204C= (p.Leu1402=) n.434C= | |
| 3 | g.49123152G>T | CA352695497 | LAMB2 | c.4204C>A (p.Leu1402Met) n.434C>A | |
| 3 | g.49123153G>A | CA433634040 | LAMB2 | c.4203C>T (p.Ser1401=) n.433C>T | |
| 3 | g.49123153G>C | CA352695501 | LAMB2 | c.4203C>G (p.Ser1401Arg) n.433C>G | |
| 3 | g.49123153G= | CA1363340001 | LAMB2 | c.4203C= (p.Ser1401=) n.433C= | |
| 3 | g.49123153G>T | CA352695506 | LAMB2 | c.4203C>A (p.Ser1401Arg) n.433C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123154C>A | CA352695509 | LAMB2 | c.4202G>T (p.Ser1401Ile) n.432G>T | |
| 3 | g.49123154C= | CA1363340004 | LAMB2 | c.4202G= (p.Ser1401=) n.432G= | |
| 3 | g.49123154C>G | CA352695510 | LAMB2 | c.4202G>C (p.Ser1401Thr) n.432G>C | |
| 3 | g.49123154C>T | CA352695512 | LAMB2 | c.4202G>A (p.Ser1401Asn) n.432G>A | dbSNP gnomAD v2 |
| 3 | g.49123154_49123155delinsCT | CA1363340003 | LAMB2 | c.4201_4202delinsAG (p.Ser1401=) n.431_432delinsAG | |
| 3 | g.49123155del | CA2393851 | LAMB2 | c.4201del (p.Ser1401AlafsTer2) n.431del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123155T>A | CA352695515 | LAMB2 | c.4201A>T (p.Ser1401Cys) n.431A>T | |
| 3 | g.49123155T>C | CA352695517 | LAMB2 | c.4201A>G (p.Ser1401Gly) n.431A>G | |
| 3 | g.49123155T>G | CA352695519 | LAMB2 | c.4201A>C (p.Ser1401Arg) n.431A>C | |
| 3 | g.49123156C>A | CA433634044 | LAMB2 | c.4200G>T (p.Leu1400=) n.430G>T | |
| 3 | g.49123156C>G | CA433634045 | LAMB2 | c.4200G>C (p.Leu1400=) n.430G>C | |
| 3 | g.49123156C>T | CA433634046 | LAMB2 | c.4200G>A (p.Leu1400=) n.430G>A | ClinVar gnomAD v4 |
| 3 | g.49123157A>C | CA352695527 | LAMB2 | c.4199T>G (p.Leu1400Arg) n.429T>G | |
| 3 | g.49123157A>G | CA352695532 | LAMB2 | c.4199T>C (p.Leu1400Pro) n.429T>C | |
| 3 | g.49123157A>T | CA352695525 | LAMB2 | c.4199T>A (p.Leu1400Gln) n.429T>A | |
| 3 | g.49123157_49123158del | CA2580070075 | LAMB2 | c.4198_4199del (p.Leu1400GlufsTer7) n.428_429del | ClinVar gnomAD v4 |
| 3 | g.49123158G>A | CA433634049 | LAMB2 | c.4198C>T (p.Leu1400=) n.428C>T | |
| 3 | g.49123158G>C | CA352695534 | LAMB2 | c.4198C>G (p.Leu1400Val) n.428C>G | gnomAD v4 |
| 3 | g.49123158G= | CA1363340006 | LAMB2 | c.4198C= (p.Leu1400=) n.428C= | |
| 3 | g.49123158G>T | CA352695539 | LAMB2 | c.4198C>A (p.Leu1400Met) n.428C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123159G>A | CA433634050 | LAMB2 | c.4197C>T (p.Thr1399=) n.427C>T | |
| 3 | g.49123159G>C | CA433634051 | LAMB2 | c.4197C>G (p.Thr1399=) n.427C>G | |
| 3 | g.49123159G>T | CA433634052 | LAMB2 | c.4197C>A (p.Thr1399=) n.427C>A | |
| 3 | g.49123160G>A | CA2393852 | LAMB2 | c.4196C>T (p.Thr1399Ile) n.426C>T | dbSNP ExAC gnomAD v4 |
| 3 | g.49123160G>C | CA352695549 | LAMB2 | c.4196C>G (p.Thr1399Ser) n.426C>G | |
| 3 | g.49123160G= | CA1363340008 | LAMB2 | c.4196C= (p.Thr1399=) n.426C= | |
| 3 | g.49123160G>T | CA352695551 | LAMB2 | c.4196C>A (p.Thr1399Asn) n.426C>A | gnomAD v4 |
| 3 | g.49123161T>A | CA352695560 | LAMB2 | c.4195A>T (p.Thr1399Ser) n.425A>T | |
| 3 | g.49123161T>C | CA352695555 | LAMB2 | c.4195A>G (p.Thr1399Ala) n.425A>G | |
| 3 | g.49123161T>G | CA352695557 | LAMB2 | c.4195A>C (p.Thr1399Pro) n.425A>C | dbSNP |
| 3 | g.49123161T= | CA1363340010 | LAMB2 | c.4195A= (p.Thr1399=) n.425A= | |
| 3 | g.49123162G>A | CA433634056 | LAMB2 | c.4194C>T (p.His1398=) n.424C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123162G>C | CA352695563 | LAMB2 | c.4194C>G (p.His1398Gln) n.424C>G | |
| 3 | g.49123162G= | CA1363340012 | LAMB2 | c.4194C= (p.His1398=) n.424C= | |
| 3 | g.49123162G>T | CA352695565 | LAMB2 | c.4194C>A (p.His1398Gln) n.424C>A | |
| 3 | g.49123163T>A | CA352695568 | LAMB2 | c.4193A>T (p.His1398Leu) n.423A>T | |
| 3 | g.49123163T>C | CA352695571 | LAMB2 | c.4193A>G (p.His1398Arg) n.423A>G | |
| 3 | g.49123163T>G | CA352695573 | LAMB2 | c.4193A>C (p.His1398Pro) n.423A>C | |
| 3 | g.49123164G>A | CA352695579 | LAMB2 | c.4192C>T (p.His1398Tyr) n.422C>T | dbSNP gnomAD v4 |
| 3 | g.49123164G>C | CA352695578 | LAMB2 | c.4192C>G (p.His1398Asp) n.422C>G | |
| 3 | g.49123164G= | CA1363340013 | LAMB2 | c.4192C= (p.His1398=) n.422C= | |
| 3 | g.49123164G>T | CA352695576 | LAMB2 | c.4192C>A (p.His1398Asn) n.422C>A | |
| 3 | g.49123165G>A | CA433634058 | LAMB2 | c.4191C>T (p.Thr1397=) n.421C>T | |
| 3 | g.49123165G>C | CA433634060 | LAMB2 | c.4191C>G (p.Thr1397=) n.421C>G | dbSNP |
| 3 | g.49123165G= | CA1363340015 | LAMB2 | c.4191C= (p.Thr1397=) n.421C= | |
| 3 | g.49123165G>T | CA433634059 | LAMB2 | c.4191C>A (p.Thr1397=) n.421C>A | |
| 3 | g.49123166G>A | CA2393853 | LAMB2 | c.4190C>T (p.Thr1397Ile) n.420C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123166G>C | CA352695584 | LAMB2 | c.4190C>G (p.Thr1397Ser) n.420C>G | |
| 3 | g.49123166G= | CA1363340017 | LAMB2 | c.4190C= (p.Thr1397=) n.420C= | |
| 3 | g.49123166G>T | CA74476855 | LAMB2 | c.4190C>A (p.Thr1397Asn) n.420C>A | dbSNP gnomAD v4 |
| 3 | g.49123167T>A | CA352695586 | LAMB2 | c.4189A>T (p.Thr1397Ser) n.419A>T | |
| 3 | g.49123167T>C | CA352695587 | LAMB2 | c.4189A>G (p.Thr1397Ala) n.419A>G | |
| 3 | g.49123167T>G | CA352695589 | LAMB2 | c.4189A>C (p.Thr1397Pro) n.419A>C | dbSNP |
| 3 | g.49123167T= | CA1363340019 | LAMB2 | c.4189A= (p.Thr1397=) n.419A= | |
| 3 | g.49123168A>C | CA352695592 | LAMB2 | c.4188T>G (p.His1396Gln) n.418T>G | |
| 3 | g.49123168A>G | CA433634064 | LAMB2 | c.4188T>C (p.His1396=) n.418T>C | gnomAD v4 |
| 3 | g.49123168A>T | CA352695594 | LAMB2 | c.4188T>A (p.His1396Gln) n.418T>A | |
| 3 | g.49123169T>A | CA352695596 | LAMB2 | c.4187A>T (p.His1396Leu) n.417A>T | |
| 3 | g.49123169T>C | CA2393854 | LAMB2 | c.4187A>G (p.His1396Arg) n.417A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123169T>G | CA352695599 | LAMB2 | c.4187A>C (p.His1396Pro) n.417A>C | |
| 3 | g.49123169T= | CA1363340021 | LAMB2 | c.4187A= (p.His1396=) n.417A= | |
| 3 | g.49123170G>A | CA352695602 | LAMB2 | c.4186C>T (p.His1396Tyr) n.416C>T | |
| 3 | g.49123170G>C | CA352695604 | LAMB2 | c.4186C>G (p.His1396Asp) n.416C>G | |
| 3 | g.49123170G>T | CA352695605 | LAMB2 | c.4186C>A (p.His1396Asn) n.416C>A | |
| 3 | g.49123171G>A | CA433634068 | LAMB2 | c.4185C>T (p.Ala1395=) n.415C>T | |
| 3 | g.49123171G>C | CA433634069 | LAMB2 | c.4185C>G (p.Ala1395=) n.415C>G | |
| 3 | g.49123171G>T | CA433634070 | LAMB2 | c.4185C>A (p.Ala1395=) n.415C>A | |
| 3 | g.49123172G>A | CA352695611 | LAMB2 | c.4184C>T (p.Ala1395Val) n.414C>T | |
| 3 | g.49123172G>C | CA352695609 | LAMB2 | c.4184C>G (p.Ala1395Gly) n.414C>G | |
| 3 | g.49123172G>T | CA352695608 | LAMB2 | c.4184C>A (p.Ala1395Asp) n.414C>A | gnomAD v4 |
| 3 | g.49123173C>A | CA352695614 | LAMB2 | c.4183G>T (p.Ala1395Ser) n.413G>T | |
| 3 | g.49123173C>G | CA352695615 | LAMB2 | c.4183G>C (p.Ala1395Pro) n.413G>C | |
| 3 | g.49123173C>T | CA352695616 | LAMB2 | c.4183G>A (p.Ala1395Thr) n.413G>A | |
| 3 | g.49123174A>C | CA433634075 | LAMB2 | c.4182T>G (p.Ser1394=) n.412T>G | |
| 3 | g.49123174A>G | CA433634076 | LAMB2 | c.4182T>C (p.Ser1394=) n.412T>C | |
| 3 | g.49123174A>T | CA433634074 | LAMB2 | c.4182T>A (p.Ser1394=) n.412T>A | |
| 3 | g.49123175G>A | CA352695618 | LAMB2 | c.4181C>T (p.Ser1394Phe) n.411C>T | |
| 3 | g.49123175G>C | CA352695620 | LAMB2 | c.4181C>G (p.Ser1394Cys) n.411C>G | |
| 3 | g.49123175G>T | CA352695622 | LAMB2 | c.4181C>A (p.Ser1394Tyr) n.411C>A | |
| 3 | g.49123176A>C | CA352695625 | LAMB2 | c.4180T>G (p.Ser1394Ala) n.410T>G | |
| 3 | g.49123176A>G | CA352695626 | LAMB2 | c.4180T>C (p.Ser1394Pro) n.410T>C | |
| 3 | g.49123176A>T | CA352695629 | LAMB2 | c.4180T>A (p.Ser1394Thr) n.410T>A | |
| 3 | g.49123177G>A | CA433634077 | LAMB2 | c.4179C>T (p.Leu1393=) n.409C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123177G>C | CA433634078 | LAMB2 | c.4179C>G (p.Leu1393=) n.409C>G | |
| 3 | g.49123177G= | CA1363340023 | LAMB2 | c.4179C= (p.Leu1393=) n.409C= | |
| 3 | g.49123177G>T | CA433634079 | LAMB2 | c.4179C>A (p.Leu1393=) n.409C>A | |
| 3 | g.49123178A>C | CA352695631 | LAMB2 | c.4178T>G (p.Leu1393Arg) n.408T>G | |
| 3 | g.49123178A>G | CA352695632 | LAMB2 | c.4178T>C (p.Leu1393Pro) n.408T>C | gnomAD v4 |
| 3 | g.49123178A>T | CA352695633 | LAMB2 | c.4178T>A (p.Leu1393His) n.408T>A | |
| 3 | g.49123179G>A | CA074319 | LAMB2 | c.4177C>T (p.Leu1393Phe) n.407C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.[49123179G>A;49123216G>T] | CA074324 | LAMB2 | c.[4140C>A;4177C>T] (p.[Asn1380Lys;Leu1393Phe]) n.[370C>A;407C>T] | |
| 3 | g.49123179G>C | CA352695638 | LAMB2 | c.4177C>G (p.Leu1393Val) n.407C>G | |
| 3 | g.49123179G= | CA1363340026 | LAMB2 | c.4177C= (p.Leu1393=) n.407C= | |
| 3 | g.49123179G>T | CA352695636 | LAMB2 | c.4177C>A (p.Leu1393Ile) n.407C>A | |
| 3 | g.49123180C>A | CA352695643 | LAMB2 | c.4176G>T (p.Lys1392Asn) n.406G>T | |
| 3 | g.49123180C>G | CA352695645 | LAMB2 | c.4176G>C (p.Lys1392Asn) n.406G>C | |
| 3 | g.49123180C>T | CA433634083 | LAMB2 | c.4176G>A (p.Lys1392=) n.406G>A | gnomAD v4 |
| 3 | g.49123181T>A | CA352695650 | LAMB2 | c.4175A>T (p.Lys1392Met) n.405A>T | |
| 3 | g.49123181T>C | CA352695657 | LAMB2 | c.4175A>G (p.Lys1392Arg) n.405A>G | |
| 3 | g.49123181T>G | CA352695660 | LAMB2 | c.4175A>C (p.Lys1392Thr) n.405A>C | |
| 3 | g.49123182T>A | CA352695671 | LAMB2 | c.4174A>T (p.Lys1392Ter) n.404A>T | |
| 3 | g.49123182T>C | CA352695667 | LAMB2 | c.4174A>G (p.Lys1392Glu) n.404A>G | |
| 3 | g.49123182T>G | CA352695663 | LAMB2 | c.4174A>C (p.Lys1392Gln) n.404A>C | |
| 3 | g.49123183G>A | CA433634087 | LAMB2 | c.4173C>T (p.Gly1391=) n.403C>T | |
| 3 | g.49123183G>C | CA433634088 | LAMB2 | c.4173C>G (p.Gly1391=) n.403C>G | |
| 3 | g.49123183G>T | CA433634089 | LAMB2 | c.4173C>A (p.Gly1391=) n.403C>A | |
| 3 | g.49123184C>A | CA352695675 | LAMB2 | c.4172G>T (p.Gly1391Val) n.402G>T | |
| 3 | g.49123184C>G | CA352695676 | LAMB2 | c.4172G>C (p.Gly1391Ala) n.402G>C | |
| 3 | g.49123184C>T | CA352695680 | LAMB2 | c.4172G>A (p.Gly1391Asp) n.402G>A | |
| 3 | g.49123185C>A | CA352695686 | LAMB2 | c.4171G>T (p.Gly1391Cys) n.401G>T | |
| 3 | g.49123185C= | CA1363340029 | LAMB2 | c.4171G= (p.Gly1391=) n.401G= | |
| 3 | g.49123185C>G | CA352695688 | LAMB2 | c.4171G>C (p.Gly1391Arg) n.401G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123185C>T | CA352695692 | LAMB2 | c.4171G>A (p.Gly1391Ser) n.401G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123186A>C | CA433634090 | LAMB2 | c.4170T>G (p.Leu1390=) n.400T>G | |
| 3 | g.49123186A>G | CA433634091 | LAMB2 | c.4170T>C (p.Leu1390=) n.400T>C | |
| 3 | g.49123186A>T | CA433634092 | LAMB2 | c.4170T>A (p.Leu1390=) n.400T>A | |
| 3 | g.49123187A>C | CA352695698 | LAMB2 | c.4169T>G (p.Leu1390Arg) n.399T>G | |
| 3 | g.49123187A>G | CA352695708 | LAMB2 | c.4169T>C (p.Leu1390Pro) n.399T>C | |
| 3 | g.49123187A>T | CA352695703 | LAMB2 | c.4169T>A (p.Leu1390His) n.399T>A | |
| 3 | g.49123188G>A | CA2393855 | LAMB2 | c.4168C>T (p.Leu1390Phe) n.398C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123188G>C | CA352695719 | LAMB2 | c.4168C>G (p.Leu1390Val) n.398C>G | |
| 3 | g.49123188G= | CA1363340031 | LAMB2 | c.4168C= (p.Leu1390=) n.398C= | |
| 3 | g.49123188G>T | CA352695722 | LAMB2 | c.4168C>A (p.Leu1390Ile) n.398C>A | |
| 3 | g.49123189T>A | CA433634093 | LAMB2 | c.4167A>T (p.Ala1389=) n.397A>T | |
| 3 | g.49123189T>C | CA433634094 | LAMB2 | c.4167A>G (p.Ala1389=) n.397A>G | gnomAD v4 |
| 3 | g.49123189T>G | CA433634095 | LAMB2 | c.4167A>C (p.Ala1389=) n.397A>C | |
| 3 | g.49123190G>A | CA352695729 | LAMB2 | c.4166C>T (p.Ala1389Val) n.396C>T | |
| 3 | g.49123190G>C | CA352695733 | LAMB2 | c.4166C>G (p.Ala1389Gly) n.396C>G | |
| 3 | g.49123190G>T | CA352695736 | LAMB2 | c.4166C>A (p.Ala1389Glu) n.396C>A | |
| 3 | g.49123191C>A | CA352695741 | LAMB2 | c.4165G>T (p.Ala1389Ser) n.395G>T | |
| 3 | g.49123191C= | CA1363340033 | LAMB2 | c.4165G= (p.Ala1389=) n.395G= | |
| 3 | g.49123191C>G | CA352695745 | LAMB2 | c.4165G>C (p.Ala1389Pro) n.395G>C | |
| 3 | g.49123191C>T | CA2393856 | LAMB2 | c.4165G>A (p.Ala1389Thr) n.395G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123192C>A | CA433634100 | LAMB2 | c.4164G>T (p.Arg1388=) n.394G>T | |
| 3 | g.49123192C>G | CA433634101 | LAMB2 | c.4164G>C (p.Arg1388=) n.394G>C | |
| 3 | g.49123192C>T | CA433634102 | LAMB2 | c.4164G>A (p.Arg1388=) n.394G>A | |
| 3 | g.49123193C>A | CA352695754 | LAMB2 | c.4163G>T (p.Arg1388Leu) n.393G>T | |
| 3 | g.49123193C= | CA1363340036 | LAMB2 | c.4163G= (p.Arg1388=) n.393G= | |
| 3 | g.49123193C>G | CA352695758 | LAMB2 | c.4163G>C (p.Arg1388Pro) n.393G>C | |
| 3 | g.49123193C>T | CA2393857 | LAMB2 | c.4163G>A (p.Arg1388Gln) n.393G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49123194G>A | CA2393858 | LAMB2 | c.4162C>T (p.Arg1388Trp) n.392C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123194G>C | CA352695766 | LAMB2 | c.4162C>G (p.Arg1388Gly) n.392C>G | |
| 3 | g.49123194G= | CA1363340039 | LAMB2 | c.4162C= (p.Arg1388=) n.392C= | |
| 3 | g.49123194G>T | CA433634105 | LAMB2 | c.4162C>A (p.Arg1388=) n.392C>A | gnomAD v4 |
| 3 | g.49123195C>A | CA352695774 | LAMB2 | c.4161G>T (p.Gln1387His) n.391G>T | |
| 3 | g.49123195C>G | CA352695776 | LAMB2 | c.4161G>C (p.Gln1387His) n.391G>C | |
| 3 | g.49123195C>T | CA433634106 | LAMB2 | c.4161G>A (p.Gln1387=) n.391G>A | |
| 3 | g.49123196T>A | CA352695783 | LAMB2 | c.4160A>T (p.Gln1387Leu) n.390A>T | |
| 3 | g.49123196T>C | CA352695790 | LAMB2 | c.4160A>G (p.Gln1387Arg) n.390A>G | |
| 3 | g.49123196T>G | CA352695786 | LAMB2 | c.4160A>C (p.Gln1387Pro) n.390A>C | |
| 3 | g.49123197G>A | CA352695795 | LAMB2 | c.4159C>T (p.Gln1387Ter) n.389C>T | gnomAD v4 |
| 3 | g.49123197G>C | CA352695803 | LAMB2 | c.4159C>G (p.Gln1387Glu) n.389C>G | |
| 3 | g.49123197G>T | CA352695800 | LAMB2 | c.4159C>A (p.Gln1387Lys) n.389C>A | |
| 3 | g.49123198G>A | CA433634110 | LAMB2 | c.4158C>T (p.Asn1386=) n.388C>T | |
| 3 | g.49123198G>C | CA352695811 | LAMB2 | c.4158C>G (p.Asn1386Lys) n.388C>G | |
| 3 | g.49123198G>T | CA352695813 | LAMB2 | c.4158C>A (p.Asn1386Lys) n.388C>A | |
| 3 | g.49123199T>A | CA352695816 | LAMB2 | c.4157A>T (p.Asn1386Ile) n.387A>T | dbSNP |
| 3 | g.49123199T>C | CA2393859 | LAMB2 | c.4157A>G (p.Asn1386Ser) n.387A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123199T>G | CA352695820 | LAMB2 | c.4157A>C (p.Asn1386Thr) n.387A>C | |
| 3 | g.49123199T= | CA1363340041 | LAMB2 | c.4157A= (p.Asn1386=) n.387A= | |
| 3 | g.49123200T>A | CA352695821 | LAMB2 | c.4156A>T (p.Asn1386Tyr) n.386A>T | |
| 3 | g.49123200T>C | CA352695822 | LAMB2 | c.4156A>G (p.Asn1386Asp) n.386A>G | |
| 3 | g.49123200T>G | CA352695823 | LAMB2 | c.4156A>C (p.Asn1386His) n.386A>C | |
| 3 | g.49123201G>A | CA433634114 | LAMB2 | c.4155C>T (p.Ala1385=) n.385C>T | |
| 3 | g.49123201G>C | CA433634115 | LAMB2 | c.4155C>G (p.Ala1385=) n.385C>G | |
| 3 | g.49123201G>T | CA433634116 | LAMB2 | c.4155C>A (p.Ala1385=) n.385C>A | |
| 3 | g.49123202G>A | CA352695825 | LAMB2 | c.4154C>T (p.Ala1385Val) n.384C>T | gnomAD v4 |
| 3 | g.49123202G>C | CA352695826 | LAMB2 | c.4154C>G (p.Ala1385Gly) n.384C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123202G= | CA1363340042 | LAMB2 | c.4154C= (p.Ala1385=) n.384C= | |
| 3 | g.49123202G>T | CA352695828 | LAMB2 | c.4154C>A (p.Ala1385Asp) n.384C>A | |
| 3 | g.49123203C>A | CA352695833 | LAMB2 | c.4153G>T (p.Ala1385Ser) n.383G>T | |
| 3 | g.49123203C>G | CA352695832 | LAMB2 | c.4153G>C (p.Ala1385Pro) n.383G>C | |
| 3 | g.49123203C>T | CA352695831 | LAMB2 | c.4153G>A (p.Ala1385Thr) n.383G>A | gnomAD v4 |
| 3 | g.49123204C>A | CA352695835 | LAMB2 | c.4152G>T (p.Met1384Ile) n.382G>T | |
| 3 | g.49123204C>G | CA352695838 | LAMB2 | c.4152G>C (p.Met1384Ile) n.382G>C | |
| 3 | g.49123204C>T | CA352695846 | LAMB2 | c.4152G>A (p.Met1384Ile) n.382G>A | |
| 3 | g.49123205A>C | CA352695850 | LAMB2 | c.4151T>G (p.Met1384Arg) n.381T>G | |
| 3 | g.49123205A>G | CA352695854 | LAMB2 | c.4151T>C (p.Met1384Thr) n.381T>C | |
| 3 | g.49123205A>T | CA352695859 | LAMB2 | c.4151T>A (p.Met1384Lys) n.381T>A | |
| 3 | g.49123206T>A | CA352695860 | LAMB2 | c.4150A>T (p.Met1384Leu) n.380A>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.49123206T>C | CA2393860 | LAMB2 | c.4150A>G (p.Met1384Val) n.380A>G | dbSNP ExAC gnomAD v2 |
| 3 | g.49123206T>G | CA352695864 | LAMB2 | c.4150A>C (p.Met1384Leu) n.380A>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123206T= | CA1363340044 | LAMB2 | c.4150A= (p.Met1384=) n.380A= | |
| 3 | g.49123207G>A | CA433634072 | LAMB2 | c.4149C>T (p.His1383=) n.379C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123207G>C | CA352695865 | LAMB2 | c.4149C>G (p.His1383Gln) n.379C>G | |
| 3 | g.49123207G= | CA1363340048 | LAMB2 | c.4149C= (p.His1383=) n.379C= | |
| 3 | g.49123207G>T | CA2393861 | LAMB2 | c.4149C>A (p.His1383Gln) n.379C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123208del | CA2665695536 | LAMB2 | c.4148del (p.His1383ProfsTer18) n.378del | gnomAD v4 |
| 3 | g.49123208T>A | CA352695877 | LAMB2 | c.4148A>T (p.His1383Leu) n.378A>T | |
| 3 | g.49123208T>C | CA2393862 | LAMB2 | c.4148A>G (p.His1383Arg) n.378A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123208T>G | CA352695871 | LAMB2 | c.4148A>C (p.His1383Pro) n.378A>C | |
| 3 | g.49123208T= | CA1363340053 | LAMB2 | c.4148A= (p.His1383=) n.378A= | |
| 3 | g.49123209G>A | CA352695883 | LAMB2 | c.4147C>T (p.His1383Tyr) n.377C>T | gnomAD v4 |
| 3 | g.49123209G>C | CA352695887 | LAMB2 | c.4147C>G (p.His1383Asp) n.377C>G | |
| 3 | g.49123209G>T | CA352695891 | LAMB2 | c.4147C>A (p.His1383Asn) n.377C>A | |
| 3 | g.49123210T>A | CA352695897 | LAMB2 | c.4146A>T (p.Lys1382Asn) n.376A>T | |
| 3 | g.49123210T>C | CA433634081 | LAMB2 | c.4146A>G (p.Lys1382=) n.376A>G | dbSNP gnomAD v4 |
| 3 | g.49123210T>G | CA352695898 | LAMB2 | c.4146A>C (p.Lys1382Asn) n.376A>C | |
| 3 | g.49123210T= | CA1363340057 | LAMB2 | c.4146A= (p.Lys1382=) n.376A= | |
| 3 | g.49123211T>A | CA352695899 | LAMB2 | c.4145A>T (p.Lys1382Ile) n.375A>T | |
| 3 | g.49123211T>C | CA352695900 | LAMB2 | c.4145A>G (p.Lys1382Arg) n.375A>G | gnomAD v4 |
| 3 | g.49123211T>G | CA352695903 | LAMB2 | c.4145A>C (p.Lys1382Thr) n.375A>C | |
| 3 | g.49123212T>A | CA352695907 | LAMB2 | c.4144A>T (p.Lys1382Ter) n.374A>T | |
| 3 | g.49123212T>C | CA352695909 | LAMB2 | c.4144A>G (p.Lys1382Glu) n.374A>G | |
| 3 | g.49123212T>G | CA352695916 | LAMB2 | c.4144A>C (p.Lys1382Gln) n.374A>C | |
| 3 | g.49123213G>A | CA433634086 | LAMB2 | c.4143C>T (p.Ser1381=) n.373C>T | dbSNP gnomAD v2 |
| 3 | g.49123213G>C | CA352695920 | LAMB2 | c.4143C>G (p.Ser1381Arg) n.373C>G | |
| 3 | g.49123213G= | CA1363340060 | LAMB2 | c.4143C= (p.Ser1381=) n.373C= | |
| 3 | g.49123213G>T | CA352695922 | LAMB2 | c.4143C>A (p.Ser1381Arg) n.373C>A | dbSNP gnomAD v2 |
| 3 | g.49123214C>A | CA352695927 | LAMB2 | c.4142G>T (p.Ser1381Ile) n.372G>T | |
| 3 | g.49123214C= | CA1363340063 | LAMB2 | c.4142G= (p.Ser1381=) n.372G= | |
| 3 | g.49123214C>G | CA352695932 | LAMB2 | c.4142G>C (p.Ser1381Thr) n.372G>C | |
| 3 | g.49123214C>T | CA352695930 | LAMB2 | c.4142G>A (p.Ser1381Asn) n.372G>A | dbSNP gnomAD v2 |
| 3 | g.49123215T>A | CA352695937 | LAMB2 | c.4141A>T (p.Ser1381Cys) n.371A>T | |
| 3 | g.49123215T>C | CA2393863 | LAMB2 | c.4141A>G (p.Ser1381Gly) n.371A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123215T>G | CA352695943 | LAMB2 | c.4141A>C (p.Ser1381Arg) n.371A>C | |
| 3 | g.49123215T= | CA1363340065 | LAMB2 | c.4141A= (p.Ser1381=) n.371A= | |
| 3 | g.49123216G>A | CA433634096 | LAMB2 | c.4140C>T (p.Asn1380=) n.370C>T | |
| 3 | g.49123216G>C | CA352695956 | LAMB2 | c.4140C>G (p.Asn1380Lys) n.370C>G | |
| 3 | g.49123216G= | CA1363340068 | LAMB2 | c.4140C= (p.Asn1380=) n.370C= | |
| 3 | g.49123216G>T | CA074242 | LAMB2 | c.4140C>A (p.Asn1380Lys) n.370C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |