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 |
|---|---|---|---|---|---|
| 3 | g.49130738_49130741del | CA2586972430 | LAMB2 | c.1036+6_1036+9del | |
| 3 | g.49130738A>C | CA352744341 | LAMB2 | c.1036+2T>G (n.1036+2T>G) | |
| 3 | g.49130738A>G | CA352744345 | LAMB2 | c.1036+2T>C (n.1036+2T>C) | gnomAD v4 |
| 3 | g.49130738A>T | CA352744348 | LAMB2 | c.1036+2T>A (n.1036+2T>A) | |
| 3 | g.49130739C>A | CA352744351 | LAMB2 | c.1036+1G>T (n.1036+1G>T) | |
| 3 | g.49130739C>G | CA352744353 | LAMB2 | c.1036+1G>C (n.1036+1G>C) | |
| 3 | g.49130739C>T | CA352744355 | LAMB2 | c.1036+1G>A (n.1036+1G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49130740T>A | CA352744357 | LAMB2 | c.1036A>T (p.Lys346Ter) | |
| 3 | g.49130740T>C | CA352744363 | LAMB2 | c.1036A>G (p.Lys346Glu) | |
| 3 | g.49130740T>G | CA352744360 | LAMB2 | c.1036A>C (p.Lys346Gln) | |
| 3 | g.49130740_49130741delinsTC | CA1363342659 | LAMB2 | c.1035_1036delinsGA (p.Arg345=) | |
| 3 | g.49130741C>A | CA352744380 | LAMB2 | c.1035G>T (p.Arg345Ser) | |
| 3 | g.49130741C>G | CA352744383 | LAMB2 | c.1035G>C (p.Arg345Ser) | gnomAD v4 |
| 3 | g.49130741C>T | CA433636212 | LAMB2 | c.1035G>A (p.Arg345=) | dbSNP gnomAD v4 |
| 3 | g.49130742del | CA74487868 | LAMB2 | c.1035del (p.Lys346SerfsTer24) | dbSNP |
| 3 | g.49130742C>A | CA352744385 | LAMB2 | c.1034G>T (p.Arg345Met) | |
| 3 | g.49130742C>G | CA352744386 | LAMB2 | c.1034G>C (p.Arg345Thr) | |
| 3 | g.49130742C>T | CA352744389 | LAMB2 | c.1034G>A (p.Arg345Lys) | |
| 3 | g.49130743T>A | CA352744392 | LAMB2 | c.1033A>T (p.Arg345Trp) | |
| 3 | g.49130743T>C | CA352744396 | LAMB2 | c.1033A>G (p.Arg345Gly) | |
| 3 | g.49130743T>G | CA433636213 | LAMB2 | c.1033A>C (p.Arg345=) | |
| 3 | g.49130744A>C | CA352744414 | LAMB2 | c.1032T>G (p.Cys344Trp) | |
| 3 | g.49130744A>G | CA433636214 | LAMB2 | c.1032T>C (p.Cys344=) | ClinVar |
| 3 | g.49130744A>T | CA352744418 | LAMB2 | c.1032T>A (p.Cys344Ter) | |
| 3 | g.49130745C>A | CA352744425 | LAMB2 | c.1031G>T (p.Cys344Phe) | |
| 3 | g.49130745C>G | CA352744429 | LAMB2 | c.1031G>C (p.Cys344Ser) | |
| 3 | g.49130745C>T | CA352744422 | LAMB2 | c.1031G>A (p.Cys344Tyr) | gnomAD v4 |
| 3 | g.49130746A>C | CA352744438 | LAMB2 | c.1030T>G (p.Cys344Gly) | |
| 3 | g.49130746A>G | CA352744432 | LAMB2 | c.1030T>C (p.Cys344Arg) | |
| 3 | g.49130746A>T | CA352744435 | LAMB2 | c.1030T>A (p.Cys344Ser) | |
| 3 | g.49130747G>A | CA74487897 | LAMB2 | c.1029C>T (p.Ala343=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130747G>C | CA433636215 | LAMB2 | c.1029C>G (p.Ala343=) | gnomAD v4 |
| 3 | g.49130747G= | CA1363342660 | LAMB2 | c.1029C= (p.Ala343=) | |
| 3 | g.49130747G>T | CA433636216 | LAMB2 | c.1029C>A (p.Ala343=) | |
| 3 | g.49130748G>A | CA2394722 | LAMB2 | c.1028C>T (p.Ala343Val) | dbSNP ExAC |
| 3 | g.49130748G>C | CA352744458 | LAMB2 | c.1028C>G (p.Ala343Gly) | gnomAD v4 |
| 3 | g.49130748G= | CA1363342661 | LAMB2 | c.1028C= (p.Ala343=) | |
| 3 | g.49130748G>T | CA352744461 | LAMB2 | c.1028C>A (p.Ala343Asp) | |
| 3 | g.49130748_49130749insA | CA2665699160 | LAMB2 | c.1027_1028insT (p.Ala343ValfsTer3) | gnomAD v4 |
| 3 | g.49130749C>A | CA352744462 | LAMB2 | c.1027G>T (p.Ala343Ser) | |
| 3 | g.49130749C>G | CA352744463 | LAMB2 | c.1027G>C (p.Ala343Pro) | |
| 3 | g.49130749C>T | CA352744464 | LAMB2 | c.1027G>A (p.Ala343Thr) | |
| 3 | g.49130749_49130750delinsCA | CA1363342662 | LAMB2 | c.1026_1027delinsTG (p.His342=) | |
| 3 | g.49130749_49130750insGGCT | CA2665699163 | LAMB2 | c.1026_1027insAGCC (p.Ala343SerfsTer4) | gnomAD v4 |
| 3 | g.49130750del | CA543048890 | LAMB2 | c.1026del (p.His342GlnfsTer28) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130750A= | CA1363342663 | LAMB2 | c.1026T= (p.His342=) | |
| 3 | g.49130750A>C | CA352744465 | LAMB2 | c.1026T>G (p.His342Gln) | |
| 3 | g.49130750A>G | CA433636217 | LAMB2 | c.1026T>C (p.His342=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130750A>T | CA352744466 | LAMB2 | c.1026T>A (p.His342Gln) | |
| 3 | g.49130751T>A | CA352744469 | LAMB2 | c.1025A>T (p.His342Leu) | |
| 3 | g.49130751T>C | CA2394723 | LAMB2 | c.1025A>G (p.His342Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130751T>G | CA352744472 | LAMB2 | c.1025A>C (p.His342Pro) | |
| 3 | g.49130751T= | CA1363342664 | LAMB2 | c.1025A= (p.His342=) | |
| 3 | g.49130752G>A | CA352744473 | LAMB2 | c.1024C>T (p.His342Tyr) | |
| 3 | g.49130752G>C | CA352744480 | LAMB2 | c.1024C>G (p.His342Asp) | |
| 3 | g.49130752G>T | CA352744476 | LAMB2 | c.1024C>A (p.His342Asn) | |
| 3 | g.49130753A= | CA1363342665 | LAMB2 | c.1023T= (p.Ser341=) | |
| 3 | g.49130753A>C | CA352744485 | LAMB2 | c.1023T>G (p.Ser341Arg) | |
| 3 | g.49130753A>G | CA433636218 | LAMB2 | c.1023T>C (p.Ser341=) | |
| 3 | g.49130753A>T | CA352744490 | LAMB2 | c.1023T>A (p.Ser341Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130754C>A | CA352744505 | LAMB2 | c.1022G>T (p.Ser341Ile) | |
| 3 | g.49130754C>G | CA352744507 | LAMB2 | c.1022G>C (p.Ser341Thr) | |
| 3 | g.49130754C>T | CA352744509 | LAMB2 | c.1022G>A (p.Ser341Asn) | |
| 3 | g.49130755T>A | CA352744514 | LAMB2 | c.1021A>T (p.Ser341Cys) | |
| 3 | g.49130755T>C | CA352744517 | LAMB2 | c.1021A>G (p.Ser341Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49130755T>G | CA352744520 | LAMB2 | c.1021A>C (p.Ser341Arg) | |
| 3 | g.49130755T= | CA1363342666 | LAMB2 | c.1021A= (p.Ser341=) | |
| 3 | g.49130756A= | CA1363342667 | LAMB2 | c.1020T= (p.His340=) | |
| 3 | g.49130756A>C | CA352744522 | LAMB2 | c.1020T>G (p.His340Gln) | |
| 3 | g.49130756A>G | CA433636219 | LAMB2 | c.1020T>C (p.His340=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130756A>T | CA352744526 | LAMB2 | c.1020T>A (p.His340Gln) | |
| 3 | g.49130757T>A | CA352744533 | LAMB2 | c.1019A>T (p.His340Leu) | |
| 3 | g.49130757T>C | CA352744534 | LAMB2 | c.1019A>G (p.His340Arg) | gnomAD v4 |
| 3 | g.49130757T>G | CA352744532 | LAMB2 | c.1019A>C (p.His340Pro) | |
| 3 | g.49130758G>A | CA74487925 | LAMB2 | c.1018C>T (p.His340Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130758G>C | CA352744540 | LAMB2 | c.1018C>G (p.His340Asp) | |
| 3 | g.49130758G= | CA1363342668 | LAMB2 | c.1018C= (p.His340=) | |
| 3 | g.49130758G>T | CA352744555 | LAMB2 | c.1018C>A (p.His340Asn) | |
| 3 | g.49130759G>A | CA433636220 | LAMB2 | c.1017C>T (p.Gly339=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130759G>C | CA433636221 | LAMB2 | c.1017C>G (p.Gly339=) | |
| 3 | g.49130759G= | CA1363342669 | LAMB2 | c.1017C= (p.Gly339=) | |
| 3 | g.49130759G>T | CA433636222 | LAMB2 | c.1017C>A (p.Gly339=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49130760C>A | CA352744560 | LAMB2 | c.1016G>T (p.Gly339Val) | |
| 3 | g.49130760C= | CA1363342670 | LAMB2 | c.1016G= (p.Gly339=) | |
| 3 | g.49130760C>G | CA352744564 | LAMB2 | c.1016G>C (p.Gly339Ala) | |
| 3 | g.49130760C>T | CA2394724 | LAMB2 | c.1016G>A (p.Gly339Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130761C>A | CA352744591 | LAMB2 | c.1015G>T (p.Gly339Cys) | |
| 3 | g.49130761C= | CA1363342671 | LAMB2 | c.1015G= (p.Gly339=) | |
| 3 | g.49130761C>G | CA2394726 | LAMB2 | c.1015G>C (p.Gly339Arg) | dbSNP ExAC gnomAD v2 |
| 3 | g.49130761C>T | CA2394725 | LAMB2 | c.1015G>A (p.Gly339Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130762G>A | CA2394727 | LAMB2 | c.1014C>T (p.Asp338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130762G>C | CA352744608 | LAMB2 | c.1014C>G (p.Asp338Glu) | |
| 3 | g.49130762G= | CA1363342672 | LAMB2 | c.1014C= (p.Asp338=) | |
| 3 | g.49130762G>T | CA352744610 | LAMB2 | c.1014C>A (p.Asp338Glu) | |
| 3 | g.49130763T>A | CA352744614 | LAMB2 | c.1013A>T (p.Asp338Val) | |
| 3 | g.49130763T>C | CA352744617 | LAMB2 | c.1013A>G (p.Asp338Gly) | gnomAD v4 |
| 3 | g.49130763T>G | CA352744612 | LAMB2 | c.1013A>C (p.Asp338Ala) | |
| 3 | g.49130763T= | CA1363342673 | LAMB2 | c.1013A= (p.Asp338=) | |
| 3 | g.49130764C>A | CA352744620 | LAMB2 | c.1012G>T (p.Asp338Tyr) | |
| 3 | g.49130764C>G | CA352744626 | LAMB2 | c.1012G>C (p.Asp338His) | |
| 3 | g.49130764C>T | CA352744629 | LAMB2 | c.1012G>A (p.Asp338Asn) | |
| 3 | g.49130765dup | CA543048891 | LAMB2 | c.1012dup (p.Asp338GlyfsTer4) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130765C>A | CA352744646 | LAMB2 | c.1011G>T (p.Glu337Asp) | |
| 3 | g.49130765C= | CA1363342674 | LAMB2 | c.1011G= (p.Glu337=) | |
| 3 | g.49130765C>G | CA352744650 | LAMB2 | c.1011G>C (p.Glu337Asp) | |
| 3 | g.49130765C>T | CA2394728 | LAMB2 | c.1011G>A (p.Glu337=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130766T>A | CA352744656 | LAMB2 | c.1010A>T (p.Glu337Val) | |
| 3 | g.49130766T>C | CA352744652 | LAMB2 | c.1010A>G (p.Glu337Gly) | |
| 3 | g.49130766T>G | CA352744653 | LAMB2 | c.1010A>C (p.Glu337Ala) | |
| 3 | g.49130767C>A | CA352744660 | LAMB2 | c.1009G>T (p.Glu337Ter) | |
| 3 | g.49130767C>G | CA352744664 | LAMB2 | c.1009G>C (p.Glu337Gln) | |
| 3 | g.49130767C>T | CA352744669 | LAMB2 | c.1009G>A (p.Glu337Lys) | |
| 3 | g.49130768A>C | CA433636223 | LAMB2 | c.1008T>G (p.Ala336=) | |
| 3 | g.49130768A>G | CA433636224 | LAMB2 | c.1008T>C (p.Ala336=) | |
| 3 | g.49130768A>T | CA433636225 | LAMB2 | c.1008T>A (p.Ala336=) | |
| 3 | g.49130769del | CA2665699217 | LAMB2 | c.1007del (p.Ala336ValfsTer?) | gnomAD v4 |
| 3 | g.49130769G>A | CA352744672 | LAMB2 | c.1007C>T (p.Ala336Val) | |
| 3 | g.49130769G>C | CA352744676 | LAMB2 | c.1007C>G (p.Ala336Gly) | |
| 3 | g.49130769G>T | CA352744686 | LAMB2 | c.1007C>A (p.Ala336Asp) | |
| 3 | g.49130770C>A | CA352744694 | LAMB2 | c.1006G>T (p.Ala336Ser) | gnomAD v4 |
| 3 | g.49130770C>G | CA352744699 | LAMB2 | c.1006G>C (p.Ala336Pro) | |
| 3 | g.49130770C>T | CA352744691 | LAMB2 | c.1006G>A (p.Ala336Thr) | |
| 3 | g.49130771C>A | CA433636226 | LAMB2 | c.1005G>T (p.Pro335=) | |
| 3 | g.49130771C= | CA1363342675 | LAMB2 | c.1005G= (p.Pro335=) | |
| 3 | g.49130771C>G | CA433636227 | LAMB2 | c.1005G>C (p.Pro335=) | |
| 3 | g.49130771C>T | CA2394729 | LAMB2 | c.1005G>A (p.Pro335=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130772G>A | CA2394730 | LAMB2 | c.1004C>T (p.Pro335Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49130772G>C | CA352744707 | LAMB2 | c.1004C>G (p.Pro335Arg) | |
| 3 | g.49130772G= | CA1363342676 | LAMB2 | c.1004C= (p.Pro335=) | |
| 3 | g.49130772G>T | CA352744710 | LAMB2 | c.1004C>A (p.Pro335Gln) | |
| 3 | g.49130773G>A | CA352744716 | LAMB2 | c.1003C>T (p.Pro335Ser) | |
| 3 | g.49130773G>C | CA352744725 | LAMB2 | c.1003C>G (p.Pro335Ala) | |
| 3 | g.49130773G>T | CA352744731 | LAMB2 | c.1003C>A (p.Pro335Thr) | |
| 3 | g.49130774A>C | CA433636228 | LAMB2 | c.1002T>G (p.Arg334=) | |
| 3 | g.49130774A>G | CA433636229 | LAMB2 | c.1002T>C (p.Arg334=) | gnomAD v4 |
| 3 | g.49130774A>T | CA433636230 | LAMB2 | c.1002T>A (p.Arg334=) | |
| 3 | g.49130775C>A | CA352744734 | LAMB2 | c.1001G>T (p.Arg334Leu) | gnomAD v4 |
| 3 | g.49130775C= | CA1363342677 | LAMB2 | c.1001G= (p.Arg334=) | |
| 3 | g.49130775C>G | CA352744732 | LAMB2 | c.1001G>C (p.Arg334Pro) | |
| 3 | g.49130775C>T | CA2394731 | LAMB2 | c.1001G>A (p.Arg334His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130776G>A | CA352744739 | LAMB2 | c.1000C>T (p.Arg334Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49130776G>C | CA2394733 | LAMB2 | c.1000C>G (p.Arg334Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130776G= | CA1363342678 | LAMB2 | c.1000C= (p.Arg334=) | |
| 3 | g.49130776G>T | CA2394732 | LAMB2 | c.1000C>A (p.Arg334Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130777C>A | CA352744751 | LAMB2 | c.999G>T (p.Trp333Cys) | |
| 3 | g.49130777C>G | CA352744756 | LAMB2 | c.999G>C (p.Trp333Cys) | gnomAD v4 |
| 3 | g.49130777C>T | CA352744757 | LAMB2 | c.999G>A (p.Trp333Ter) | |
| 3 | g.49130778C>A | CA352744762 | LAMB2 | c.998G>T (p.Trp333Leu) | |
| 3 | g.49130778C>G | CA352744769 | LAMB2 | c.998G>C (p.Trp333Ser) | |
| 3 | g.49130778C>T | CA352744765 | LAMB2 | c.998G>A (p.Trp333Ter) | |
| 3 | g.49130779A>C | CA352744773 | LAMB2 | c.997T>G (p.Trp333Gly) | |
| 3 | g.49130779A>G | CA352744774 | LAMB2 | c.997T>C (p.Trp333Arg) | |
| 3 | g.49130779A>T | CA352744778 | LAMB2 | c.997T>A (p.Trp333Arg) | |
| 3 | g.49130780G>A | CA433636231 | LAMB2 | c.996C>T (p.Pro332=) | gnomAD v4 |
| 3 | g.49130780G>C | CA433636232 | LAMB2 | c.996C>G (p.Pro332=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130780G= | CA1363342679 | LAMB2 | c.996C= (p.Pro332=) | |
| 3 | g.49130780G>T | CA433636233 | LAMB2 | c.996C>A (p.Pro332=) | |
| 3 | g.49130781G>A | CA352744785 | LAMB2 | c.995C>T (p.Pro332Leu) | |
| 3 | g.49130781G>C | CA352744786 | LAMB2 | c.995C>G (p.Pro332Arg) | |
| 3 | g.49130781G>T | CA352744790 | LAMB2 | c.995C>A (p.Pro332His) | |
| 3 | g.49130782G>A | CA352744795 | LAMB2 | c.994C>T (p.Pro332Ser) | gnomAD v4 |
| 3 | g.49130782G>C | CA352744802 | LAMB2 | c.994C>G (p.Pro332Ala) | |
| 3 | g.49130782G>T | CA352744817 | LAMB2 | c.994C>A (p.Pro332Thr) | |
| 3 | g.49130783C>A | CA433636234 | LAMB2 | c.993G>T (p.Leu331=) | gnomAD v4 |
| 3 | g.49130783C>G | CA433636236 | LAMB2 | c.993G>C (p.Leu331=) | |
| 3 | g.49130783C>T | CA433636235 | LAMB2 | c.993G>A (p.Leu331=) | |
| 3 | g.49130784A>C | CA352744822 | LAMB2 | c.992T>G (p.Leu331Arg) | |
| 3 | g.49130784A>G | CA352744826 | LAMB2 | c.992T>C (p.Leu331Pro) | |
| 3 | g.49130784A>T | CA352744832 | LAMB2 | c.992T>A (p.Leu331Gln) | |
| 3 | g.49130785G>A | CA2394734 | LAMB2 | c.991C>T (p.Leu331=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130785G>C | CA352744855 | LAMB2 | c.991C>G (p.Leu331Val) | |
| 3 | g.49130785G= | CA1363342680 | LAMB2 | c.991C= (p.Leu331=) | |
| 3 | g.49130785G>T | CA352744846 | LAMB2 | c.991C>A (p.Leu331Met) | |
| 3 | g.49130786G>A | CA433636237 | LAMB2 | c.990C>T (p.Asp330=) | |
| 3 | g.49130786G>C | CA352744859 | LAMB2 | c.990C>G (p.Asp330Glu) | |
| 3 | g.49130786G>T | CA352744863 | LAMB2 | c.990C>A (p.Asp330Glu) | |
| 3 | g.49130787T>A | CA352744869 | LAMB2 | c.989A>T (p.Asp330Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130787T>C | CA352744874 | LAMB2 | c.989A>G (p.Asp330Gly) | |
| 3 | g.49130787T>G | CA352744877 | LAMB2 | c.989A>C (p.Asp330Ala) | |
| 3 | g.49130787T= | CA1363342681 | LAMB2 | c.989A= (p.Asp330=) | |
| 3 | g.49130788C>A | CA352744882 | LAMB2 | c.988G>T (p.Asp330Tyr) | |
| 3 | g.49130788C>G | CA352744886 | LAMB2 | c.988G>C (p.Asp330His) | |
| 3 | g.49130788C>T | CA352744890 | LAMB2 | c.988G>A (p.Asp330Asn) | |
| 3 | g.49130789A>C | CA433636238 | LAMB2 | c.987T>G (p.Arg329=) | |
| 3 | g.49130789A>G | CA433636239 | LAMB2 | c.987T>C (p.Arg329=) | |
| 3 | g.49130789A>T | CA433636240 | LAMB2 | c.987T>A (p.Arg329=) | |
| 3 | g.49130790C>A | CA352744895 | LAMB2 | c.986G>T (p.Arg329Leu) | |
| 3 | g.49130790C= | CA1363342682 | LAMB2 | c.986G= (p.Arg329=) | |
| 3 | g.49130790C>G | CA352744917 | LAMB2 | c.986G>C (p.Arg329Pro) | gnomAD v4 |
| 3 | g.49130790C>T | CA74488041 | LAMB2 | c.986G>A (p.Arg329His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49130791G>A | CA352744928 | LAMB2 | c.985C>T (p.Arg329Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130791G>C | CA352744939 | LAMB2 | c.985C>G (p.Arg329Gly) | |
| 3 | g.49130791G= | CA1363342683 | LAMB2 | c.985C= (p.Arg329=) | |
| 3 | g.49130791G>T | CA352744942 | LAMB2 | c.985C>A (p.Arg329Ser) | dbSNP gnomAD v4 |
| 3 | g.49130792A= | CA1363342684 | LAMB2 | c.984T= (p.Tyr328=) | |
| 3 | g.49130792A>C | CA352744949 | LAMB2 | c.984T>G (p.Tyr328Ter) | |
| 3 | g.49130792A>G | CA433636241 | LAMB2 | c.984T>C (p.Tyr328=) | dbSNP |
| 3 | g.49130792A>T | CA352744953 | LAMB2 | c.984T>A (p.Tyr328Ter) | |
| 3 | g.49130793T>A | CA2394735 | LAMB2 | c.983A>T (p.Tyr328Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130793T>C | CA2394736 | LAMB2 | c.983A>G (p.Tyr328Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130793T>G | CA352744959 | LAMB2 | c.983A>C (p.Tyr328Ser) | |
| 3 | g.49130793T= | CA1363342685 | LAMB2 | c.983A= (p.Tyr328=) | |
| 3 | g.49130794A>C | CA352744963 | LAMB2 | c.982T>G (p.Tyr328Asp) | |
| 3 | g.49130794A>G | CA352744971 | LAMB2 | c.982T>C (p.Tyr328His) | |
| 3 | g.49130794A>T | CA352744978 | LAMB2 | c.982T>A (p.Tyr328Asn) | |
| 3 | g.49130795G>A | CA433636242 | LAMB2 | c.981C>T (p.Phe327=) | |
| 3 | g.49130795G>C | CA352744980 | LAMB2 | c.981C>G (p.Phe327Leu) | |
| 3 | g.49130795G>T | CA352744983 | LAMB2 | c.981C>A (p.Phe327Leu) | |
| 3 | g.49130796A>C | CA352744989 | LAMB2 | c.980T>G (p.Phe327Cys) | |
| 3 | g.49130796A>G | CA352744990 | LAMB2 | c.980T>C (p.Phe327Ser) | |
| 3 | g.49130796A>T | CA352744996 | LAMB2 | c.980T>A (p.Phe327Tyr) | |
| 3 | g.49130797A>C | CA352745005 | LAMB2 | c.979T>G (p.Phe327Val) | |
| 3 | g.49130797A>G | CA352745003 | LAMB2 | c.979T>C (p.Phe327Leu) | |
| 3 | g.49130797A>T | CA352745001 | LAMB2 | c.979T>A (p.Phe327Ile) | |
| 3 | g.49130798A= | CA1363342686 | LAMB2 | c.978T= (p.Asp326=) | |
| 3 | g.49130798A>C | CA352745007 | LAMB2 | c.978T>G (p.Asp326Glu) | |
| 3 | g.49130798A>G | CA2394737 | LAMB2 | c.978T>C (p.Asp326=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130798A>T | CA352745027 | LAMB2 | c.978T>A (p.Asp326Glu) | |
| 3 | g.49130799T>A | CA352745034 | LAMB2 | c.977A>T (p.Asp326Val) | |
| 3 | g.49130799T>C | CA352745037 | LAMB2 | c.977A>G (p.Asp326Gly) | |
| 3 | g.49130799T>G | CA352745042 | LAMB2 | c.977A>C (p.Asp326Ala) | |
| 3 | g.49130800C>A | CA352745049 | LAMB2 | c.976G>T (p.Asp326Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49130800C= | CA1363342687 | LAMB2 | c.976G= (p.Asp326=) | |
| 3 | g.49130800C>G | CA352745044 | LAMB2 | c.976G>C (p.Asp326His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49130800C>T | CA352745046 | LAMB2 | c.976G>A (p.Asp326Asn) | dbSNP gnomAD v2 |
| 3 | g.49130801C>A | CA352745054 | LAMB2 | c.975G>T (p.Gln325His) | |
| 3 | g.49130801C>G | CA352745059 | LAMB2 | c.975G>C (p.Gln325His) | |
| 3 | g.49130801C>T | CA433636243 | LAMB2 | c.975G>A (p.Gln325=) | |
| 3 | g.49130802T>A | CA352745062 | LAMB2 | c.974A>T (p.Gln325Leu) | |
| 3 | g.49130802T>C | CA352745063 | LAMB2 | c.974A>G (p.Gln325Arg) | |
| 3 | g.49130802T>G | CA352745064 | LAMB2 | c.974A>C (p.Gln325Pro) | dbSNP |
| 3 | g.49130802T= | CA1363342688 | LAMB2 | c.974A= (p.Gln325=) | |
| 3 | g.49130803G>A | CA352745076 | LAMB2 | c.973C>T (p.Gln325Ter) | gnomAD v4 |
| 3 | g.49130803G>C | CA352745069 | LAMB2 | c.973C>G (p.Gln325Glu) | |
| 3 | g.49130803G>T | CA352745074 | LAMB2 | c.973C>A (p.Gln325Lys) | |
| 3 | g.49130804A>C | CA352745078 | LAMB2 | c.972T>G (p.Cys324Trp) | |
| 3 | g.49130804A>G | CA433636244 | LAMB2 | c.972T>C (p.Cys324=) | |
| 3 | g.49130804A>T | CA352745080 | LAMB2 | c.972T>A (p.Cys324Ter) | gnomAD v4 |
| 3 | g.49130805C>A | CA352745085 | LAMB2 | c.971G>T (p.Cys324Phe) | |
| 3 | g.49130805C>G | CA352745090 | LAMB2 | c.971G>C (p.Cys324Ser) | |
| 3 | g.49130805C>T | CA352745109 | LAMB2 | c.971G>A (p.Cys324Tyr) | |
| 3 | g.49130806A= | CA1363342689 | LAMB2 | c.970T= (p.Cys324=) | |
| 3 | g.49130806A>C | CA352745114 | LAMB2 | c.970T>G (p.Cys324Gly) | dbSNP |
| 3 | g.49130806A>G | CA352745117 | LAMB2 | c.970T>C (p.Cys324Arg) | ClinVar dbSNP |
| 3 | g.49130806A>T | CA352745130 | LAMB2 | c.970T>A (p.Cys324Ser) | |
| 3 | g.49130806_49130807delinsAC | CA1363342690 | LAMB2 | c.969_970delinsGT (p.Gln323=) | |
| 3 | g.49130807del | CA907827606 | LAMB2 | c.969del (p.Gln323HisfsTer?) | dbSNP |
| 3 | g.49130807C>A | CA352745136 | LAMB2 | c.969G>T (p.Gln323His) | |
| 3 | g.49130807C>G | CA352745143 | LAMB2 | c.969G>C (p.Gln323His) | |
| 3 | g.49130807C>T | CA433636245 | LAMB2 | c.969G>A (p.Gln323=) | |
| 3 | g.49130808T>A | CA352745150 | LAMB2 | c.968A>T (p.Gln323Leu) | |
| 3 | g.49130808T>C | CA352745156 | LAMB2 | c.968A>G (p.Gln323Arg) | |
| 3 | g.49130808T>G | CA352745159 | LAMB2 | c.968A>C (p.Gln323Pro) | |
| 3 | g.49130809G>A | CA352745165 | LAMB2 | c.967C>T (p.Gln323Ter) | |
| 3 | g.49130809G>C | CA352745191 | LAMB2 | c.967C>G (p.Gln323Glu) | |
| 3 | g.49130809G>T | CA352745186 | LAMB2 | c.967C>A (p.Gln323Lys) | |
| 3 | g.49130810C>A | CA352745198 | LAMB2 | c.966G>T (p.Glu322Asp) | |
| 3 | g.49130810C>G | CA352745231 | LAMB2 | c.966G>C (p.Glu322Asp) | |
| 3 | g.49130810C>T | CA433636246 | LAMB2 | c.966G>A (p.Glu322=) | gnomAD v4 |
| 3 | g.49130811T>A | CA352745255 | LAMB2 | c.965A>T (p.Glu322Val) | |
| 3 | g.49130811T>C | CA352745268 | LAMB2 | c.965A>G (p.Glu322Gly) | |
| 3 | g.49130811T>G | CA352745273 | LAMB2 | c.965A>C (p.Glu322Ala) | |
| 3 | g.49130812C>A | CA352745300 | LAMB2 | c.964G>T (p.Glu322Ter) | |
| 3 | g.49130812C= | CA1363342691 | LAMB2 | c.964G= (p.Glu322=) | |
| 3 | g.49130812C>G | CA352745294 | LAMB2 | c.964G>C (p.Glu322Gln) | |
| 3 | g.49130812C>T | CA2394738 | LAMB2 | c.964G>A (p.Glu322Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130813G>A | CA2394739 | LAMB2 | c.963C>T (p.Cys321=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130813G>C | CA352745322 | LAMB2 | c.963C>G (p.Cys321Trp) | |
| 3 | g.49130813G= | CA1363342692 | LAMB2 | c.963C= (p.Cys321=) | |
| 3 | g.49130813G>T | CA352745324 | LAMB2 | c.963C>A (p.Cys321Ter) | |
| 3 | g.49130814C>A | CA352745325 | LAMB2 | c.962G>T (p.Cys321Phe) | |
| 3 | g.49130814C>G | CA352745329 | LAMB2 | c.962G>C (p.Cys321Ser) | |
| 3 | g.49130814C>T | CA352745332 | LAMB2 | c.962G>A (p.Cys321Tyr) | |
| 3 | g.49130815A= | CA1363342693 | LAMB2 | c.961T= (p.Cys321=) | |
| 3 | g.49130815A>C | CA352745338 | LAMB2 | c.961T>G (p.Cys321Gly) | |
| 3 | g.49130815A>G | CA124113 | LAMB2 | c.961T>C (p.Cys321Arg) | ClinVar dbSNP |
| 3 | g.49130815A>T | CA352745341 | LAMB2 | c.961T>A (p.Cys321Ser) | |
| 3 | g.49130816G>A | CA433636247 | LAMB2 | c.960C>T (p.Asn320=) | |
| 3 | g.49130816G>C | CA352745357 | LAMB2 | c.960C>G (p.Asn320Lys) | |
| 3 | g.49130816G>T | CA352745360 | LAMB2 | c.960C>A (p.Asn320Lys) | |
| 3 | g.49130817T>A | CA352745363 | LAMB2 | c.959A>T (p.Asn320Ile) | |
| 3 | g.49130817T>C | CA352745364 | LAMB2 | c.959A>G (p.Asn320Ser) | dbSNP |
| 3 | g.49130817T>G | CA352745366 | LAMB2 | c.959A>C (p.Asn320Thr) | |
| 3 | g.49130817T= | CA1363342694 | LAMB2 | c.959A= (p.Asn320=) | |
| 3 | g.49130818T>A | CA352745370 | LAMB2 | c.958A>T (p.Asn320Tyr) | |
| 3 | g.49130818T>C | CA352745373 | LAMB2 | c.958A>G (p.Asn320Asp) | |
| 3 | g.49130818T>G | CA352745377 | LAMB2 | c.958A>C (p.Asn320His) | |
| 3 | g.49130819G>A | CA433636248 | LAMB2 | c.957C>T (p.Leu319=) | |
| 3 | g.49130819G>C | CA433636249 | LAMB2 | c.957C>G (p.Leu319=) | gnomAD v4 |
| 3 | g.49130819G= | CA1363342695 | LAMB2 | c.957C= (p.Leu319=) | |
| 3 | g.49130819G>T | CA433636250 | LAMB2 | c.957C>A (p.Leu319=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130820A= | CA1363342696 | LAMB2 | c.956T= (p.Leu319=) | |
| 3 | g.49130820A>C | CA352745387 | LAMB2 | c.956T>G (p.Leu319Arg) | |
| 3 | g.49130820A>G | CA352745391 | LAMB2 | c.956T>C (p.Leu319Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49130820A>T | CA352745396 | LAMB2 | c.956T>A (p.Leu319His) | |
| 3 | g.49130821G>A | CA74488060 | LAMB2 | c.955C>T (p.Leu319Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130821G>C | CA352745420 | LAMB2 | c.955C>G (p.Leu319Val) | |
| 3 | g.49130821G= | CA1363342697 | LAMB2 | c.955C= (p.Leu319=) | |
| 3 | g.49130821G>T | CA352745417 | LAMB2 | c.955C>A (p.Leu319Ile) | |
| 3 | g.49130822G>A | CA433636251 | LAMB2 | c.954C>T (p.Gly318=) | gnomAD v4 |
| 3 | g.49130822G>C | CA433636252 | LAMB2 | c.954C>G (p.Gly318=) | |
| 3 | g.49130822G>T | CA433636253 | LAMB2 | c.954C>A (p.Gly318=) | |
| 3 | g.49130823C>A | CA352745435 | LAMB2 | c.953G>T (p.Gly318Val) | |
| 3 | g.49130823C= | CA1363342698 | LAMB2 | c.953G= (p.Gly318=) | |
| 3 | g.49130823C>G | CA2394740 | LAMB2 | c.953G>C (p.Gly318Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130823C>T | CA352745441 | LAMB2 | c.953G>A (p.Gly318Asp) | |
| 3 | g.49130824C>A | CA352745478 | LAMB2 | c.952G>T (p.Gly318Cys) | COSMIC |
| 3 | g.49130824C>G | CA352745488 | LAMB2 | c.952G>C (p.Gly318Arg) | |
| 3 | g.49130824C>T | CA352745489 | LAMB2 | c.952G>A (p.Gly318Ser) | |
| 3 | g.49130825A= | CA1363342699 | LAMB2 | c.951T= (p.Arg317=) | |
| 3 | g.49130825A>C | CA433636254 | LAMB2 | c.951T>G (p.Arg317=) | |
| 3 | g.49130825A>G | CA433636255 | LAMB2 | c.951T>C (p.Arg317=) | |
| 3 | g.49130825A>T | CA2394741 | LAMB2 | c.951T>A (p.Arg317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130826C>A | CA352745507 | LAMB2 | c.950G>T (p.Arg317Leu) | gnomAD v4 |
| 3 | g.49130826C= | CA1363342700 | LAMB2 | c.950G= (p.Arg317=) | |
| 3 | g.49130826C>G | CA352745510 | LAMB2 | c.950G>C (p.Arg317Pro) | |
| 3 | g.49130826C>T | CA2394742 | LAMB2 | c.950G>A (p.Arg317His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49130827G>A | CA352745529 | LAMB2 | c.949C>T (p.Arg317Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130827G>C | CA352745526 | LAMB2 | c.949C>G (p.Arg317Gly) | |
| 3 | g.49130827G= | CA1363342701 | LAMB2 | c.949C= (p.Arg317=) | |
| 3 | g.49130827G>T | CA2394743 | LAMB2 | c.949C>A (p.Arg317Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130828T>A | CA2394745 | LAMB2 | c.948A>T (p.Thr316=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130828T>C | CA74488117 | LAMB2 | c.948A>G (p.Thr316=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49130828T>G | CA2394744 | LAMB2 | c.948A>C (p.Thr316=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130828T= | CA1363342702 | LAMB2 | c.948A= (p.Thr316=) | |
| 3 | g.49130829G>A | CA352745558 | LAMB2 | c.947C>T (p.Thr316Ile) | dbSNP |
| 3 | g.49130829G>C | CA352745573 | LAMB2 | c.947C>G (p.Thr316Arg) | |
| 3 | g.49130829G>T | CA352745591 | LAMB2 | c.947C>A (p.Thr316Lys) | |
| 3 | g.49130830T>A | CA352745600 | LAMB2 | c.946A>T (p.Thr316Ser) | |
| 3 | g.49130830T>C | CA352745613 | LAMB2 | c.946A>G (p.Thr316Ala) | |
| 3 | g.49130830T>G | CA352745609 | LAMB2 | c.946A>C (p.Thr316Pro) | |
| 3 | g.49130831G>A | CA2394746 | LAMB2 | c.945C>T (p.Asn315=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130831G>C | CA352745626 | LAMB2 | c.945C>G (p.Asn315Lys) | |
| 3 | g.49130831G= | CA1363342703 | LAMB2 | c.945C= (p.Asn315=) | |
| 3 | g.49130831G>T | CA352745633 | LAMB2 | c.945C>A (p.Asn315Lys) | |
| 3 | g.49130832T>A | CA352745639 | LAMB2 | c.944A>T (p.Asn315Ile) | |
| 3 | g.49130832T>C | CA352745643 | LAMB2 | c.944A>G (p.Asn315Ser) | |
| 3 | g.49130832T>G | CA352745647 | LAMB2 | c.944A>C (p.Asn315Thr) | |
| 3 | g.49130833T>A | CA352745653 | LAMB2 | c.943A>T (p.Asn315Tyr) | |
| 3 | g.49130833T>C | CA352745661 | LAMB2 | c.943A>G (p.Asn315Asp) | |
| 3 | g.49130833T>G | CA352745662 | LAMB2 | c.943A>C (p.Asn315His) | |
| 3 | g.49130834G>A | CA433636256 | LAMB2 | c.942C>T (p.His314=) | gnomAD v4 |
| 3 | g.49130834G>C | CA352745667 | LAMB2 | c.942C>G (p.His314Gln) | |
| 3 | g.49130834G>T | CA352745669 | LAMB2 | c.942C>A (p.His314Gln) | |
| 3 | g.49130835T>A | CA352745684 | LAMB2 | c.941A>T (p.His314Leu) | |
| 3 | g.49130835T>C | CA74488134 | LAMB2 | c.941A>G (p.His314Arg) | dbSNP |
| 3 | g.49130835T>G | CA352745677 | LAMB2 | c.941A>C (p.His314Pro) | |
| 3 | g.49130835T= | CA1363342704 | LAMB2 | c.941A= (p.His314=) | |
| 3 | g.49130836G>A | CA352745694 | LAMB2 | c.940C>T (p.His314Tyr) | |
| 3 | g.49130836G>C | CA352745699 | LAMB2 | c.940C>G (p.His314Asp) | |
| 3 | g.49130836G>T | CA352745710 | LAMB2 | c.940C>A (p.His314Asn) | |
| 3 | g.49130837T>A | CA352745712 | LAMB2 | c.939A>T (p.Lys313Asn) | |
| 3 | g.49130837T>C | CA433636257 | LAMB2 | c.939A>G (p.Lys313=) | gnomAD v4 |
| 3 | g.49130837T>G | CA352745713 | LAMB2 | c.939A>C (p.Lys313Asn) | |
| 3 | g.49130838T>A | CA352745714 | LAMB2 | c.938A>T (p.Lys313Ile) | |
| 3 | g.49130838T>C | CA2394747 | LAMB2 | c.938A>G (p.Lys313Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130838T>G | CA352745732 | LAMB2 | c.938A>C (p.Lys313Thr) | |
| 3 | g.49130838T= | CA1363342705 | LAMB2 | c.938A= (p.Lys313=) |