3 | g.49130729A= | CA1363342656 | LAMB2 | c.1036+11T= (n.1036+11T=)
| |
3 | g.49130729A>G | CA2394719 | LAMB2 | c.1036+11T>C (n.1036+11T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.49130731C= | CA1363342657 | LAMB2 | c.1036+9G= (n.1036+9G=)
| |
3 | g.49130731C>G | CA2394720 | LAMB2 | c.1036+9G>C (n.1036+9G>C)
| dbSNP ExAC gnomAD v2 |
3 | g.49130738_49130741del | CA2586972430 | LAMB2 | c.1036+6_1036+9del
| |
3 | g.49130733C>A | CA2839723776 | LAMB2 | c.1036+7G>T (n.1036+7G>T)
| |
3 | g.49130735C>A | CA2394721 | LAMB2 | c.1036+5G>T (n.1036+5G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49130735C= | CA1363342658 | LAMB2 | c.1036+5G= (n.1036+5G=)
| |
3 | g.49130735C>T | CA2840570100 | LAMB2 | c.1036+5G>A (n.1036+5G>A)
| |
3 | g.49130736T>C | CA2840570101 | LAMB2 | c.1036+4A>G (n.1036+4A>G)
| |
3 | g.49130737C>A | CA2665699155 | LAMB2 | c.1036+3G>T (n.1036+3G>T)
| gnomAD v4 |
3 | g.49130737C>G | CA2665699156 | LAMB2 | c.1036+3G>C (n.1036+3G>C)
| gnomAD v4 |
3 | g.49130737C>T | CA2665699157 | LAMB2 | c.1036+3G>A (n.1036+3G>A)
| gnomAD v4 |
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.49130773dup | CA2840278697 | LAMB2 | c.1004dup (p.Ala336GlyfsTer2)
| |
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.49130801dup | CA2840278698 | LAMB2 | c.976dup (p.Asp326GlyfsTer5)
| |
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)
| |