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 |
|---|---|---|---|---|---|
| 1 | g.209638535A>C | CA344597522 | LAMB3 | c.297T>G (p.Asn99Lys) | |
| 1 | g.209638535A>G | CA423032944 | LAMB3 | c.297T>C (p.Asn99=) | |
| 1 | g.209638535A>T | CA344597523 | LAMB3 | c.297T>A (p.Asn99Lys) | |
| 1 | g.209638536T>A | CA344597526 | LAMB3 | c.296A>T (p.Asn99Ile) | |
| 1 | g.209638536T>C | CA344597529 | LAMB3 | c.296A>G (p.Asn99Ser) | |
| 1 | g.209638536T>G | CA344597528 | LAMB3 | c.296A>C (p.Asn99Thr) | |
| 1 | g.209638537T>A | CA344597532 | LAMB3 | c.295A>T (p.Asn99Tyr) | |
| 1 | g.209638537T>C | CA344597533 | LAMB3 | c.295A>G (p.Asn99Asp) | |
| 1 | g.209638537T>G | CA344597535 | LAMB3 | c.295A>C (p.Asn99His) | |
| 1 | g.209638538C>A | CA344597538 | LAMB3 | c.294G>T (p.Gln98His) | |
| 1 | g.209638538C= | CA2484304456 | LAMB3 | c.294G= (p.Gln98=) | |
| 1 | g.209638538C>G | CA344597540 | LAMB3 | c.294G>C (p.Gln98His) | |
| 1 | g.209638538C>T | CA423032945 | LAMB3 | c.294G>A (p.Gln98=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638539T>A | CA344597542 | LAMB3 | c.293A>T (p.Gln98Leu) | |
| 1 | g.209638539T>C | CA344597544 | LAMB3 | c.293A>G (p.Gln98Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209638539T>G | CA344597545 | LAMB3 | c.293A>C (p.Gln98Pro) | |
| 1 | g.209638539T= | CA2484304457 | LAMB3 | c.293A= (p.Gln98=) | |
| 1 | g.209638540G>A | CA344597548 | LAMB3 | c.292C>T (p.Gln98Ter) | |
| 1 | g.209638540G>C | CA344597549 | LAMB3 | c.292C>G (p.Gln98Glu) | |
| 1 | g.209638540G>T | CA344597551 | LAMB3 | c.292C>A (p.Gln98Lys) | gnomAD v4 COSMIC |
| 1 | g.209638541del | CA2650323712 | LAMB3 | c.291del (p.Gln98ArgfsTer4) | gnomAD v4 |
| 1 | g.209638541T>A | CA423032947 | LAMB3 | c.291A>T (p.Ser97=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209638541T>C | CA423032946 | LAMB3 | c.291A>G (p.Ser97=) | dbSNP |
| 1 | g.209638541T>G | CA1376048 | LAMB3 | c.291A>C (p.Ser97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638541T= | CA1139912116 | LAMB3 | c.291A= (p.Ser97=) | |
| 1 | g.209638542G>A | CA344597558 | LAMB3 | c.290C>T (p.Ser97Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209638542G>C | CA344597554 | LAMB3 | c.290C>G (p.Ser97Ter) | |
| 1 | g.209638542G= | CA2484304458 | LAMB3 | c.290C= (p.Ser97=) | |
| 1 | g.209638542G>T | CA344597556 | LAMB3 | c.290C>A (p.Ser97Ter) | gnomAD v4 |
| 1 | g.209638543A>C | CA344597560 | LAMB3 | c.289T>G (p.Ser97Ala) | |
| 1 | g.209638543A>G | CA344597562 | LAMB3 | c.289T>C (p.Ser97Pro) | |
| 1 | g.209638543A>T | CA344597564 | LAMB3 | c.289T>A (p.Ser97Thr) | |
| 1 | g.209638544C>A | CA344597566 | LAMB3 | c.288G>T (p.Gln96His) | |
| 1 | g.209638544C>G | CA344597568 | LAMB3 | c.288G>C (p.Gln96His) | |
| 1 | g.209638544C>T | CA423032948 | LAMB3 | c.288G>A (p.Gln96=) | gnomAD v4 |
| 1 | g.209638545T>A | CA344597571 | LAMB3 | c.287A>T (p.Gln96Leu) | |
| 1 | g.209638545T>C | CA344597573 | LAMB3 | c.287A>G (p.Gln96Arg) | |
| 1 | g.209638545T>G | CA344597575 | LAMB3 | c.287A>C (p.Gln96Pro) | |
| 1 | g.209638546G>A | CA344597577 | LAMB3 | c.286C>T (p.Gln96Ter) | gnomAD v4 |
| 1 | g.209638546G>C | CA344597579 | LAMB3 | c.286C>G (p.Gln96Glu) | |
| 1 | g.209638546G>T | CA344597580 | LAMB3 | c.286C>A (p.Gln96Lys) | gnomAD v4 |
| 1 | g.209638547C>A | CA344597586 | LAMB3 | c.285G>T (p.Trp95Cys) | |
| 1 | g.209638547C= | CA2484304459 | LAMB3 | c.285G= (p.Trp95=) | |
| 1 | g.209638547C>G | CA344597584 | LAMB3 | c.285G>C (p.Trp95Cys) | |
| 1 | g.209638547C>T | CA344597582 | LAMB3 | c.285G>A (p.Trp95Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209638548C>A | CA344597591 | LAMB3 | c.284G>T (p.Trp95Leu) | |
| 1 | g.209638548C>G | CA344597588 | LAMB3 | c.284G>C (p.Trp95Ser) | |
| 1 | g.209638548C>T | CA344597590 | LAMB3 | c.284G>A (p.Trp95Ter) | |
| 1 | g.209638549A= | CA2484304460 | LAMB3 | c.283T= (p.Trp95=) | |
| 1 | g.209638549A>C | CA344597593 | LAMB3 | c.283T>G (p.Trp95Gly) | dbSNP |
| 1 | g.209638549A>G | CA344597595 | LAMB3 | c.283T>C (p.Trp95Arg) | |
| 1 | g.209638549A>T | CA344597597 | LAMB3 | c.283T>A (p.Trp95Arg) | |
| 1 | g.209638550C>A | CA344597602 | LAMB3 | c.282G>T (p.Trp94Cys) | |
| 1 | g.209638550C= | CA1148722953 | LAMB3 | c.282G= (p.Trp94=) | |
| 1 | g.209638550C>G | CA344597600 | LAMB3 | c.282G>C (p.Trp94Cys) | |
| 1 | g.209638550C>T | CA1376049 | LAMB3 | c.282G>A (p.Trp94Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209638551C>A | CA344597605 | LAMB3 | c.281G>T (p.Trp94Leu) | |
| 1 | g.209638551C>G | CA344597607 | LAMB3 | c.281G>C (p.Trp94Ser) | |
| 1 | g.209638551C>T | CA344597609 | LAMB3 | c.281G>A (p.Trp94Ter) | gnomAD v4 |
| 1 | g.209638552A>C | CA344597613 | LAMB3 | c.280T>G (p.Trp94Gly) | |
| 1 | g.209638552A>G | CA344597614 | LAMB3 | c.280T>C (p.Trp94Arg) | |
| 1 | g.209638552A>T | CA344597615 | LAMB3 | c.280T>A (p.Trp94Arg) | |
| 1 | g.209638553G>A | CA423032949 | LAMB3 | c.279C>T (p.Arg93=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209638553G>C | CA423032950 | LAMB3 | c.279C>G (p.Arg93=) | |
| 1 | g.209638553G>T | CA423032951 | LAMB3 | c.279C>A (p.Arg93=) | |
| 1 | g.209638554C>A | CA344597617 | LAMB3 | c.278G>T (p.Arg93Leu) | dbSNP |
| 1 | g.209638554C= | CA2484304461 | LAMB3 | c.278G= (p.Arg93=) | |
| 1 | g.209638554C>G | CA344597619 | LAMB3 | c.278G>C (p.Arg93Pro) | |
| 1 | g.209638554C>T | CA1376050 | LAMB3 | c.278G>A (p.Arg93His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638555G>A | CA1376051 | LAMB3 | c.277C>T (p.Arg93Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638555G>C | CA344597622 | LAMB3 | c.277C>G (p.Arg93Gly) | |
| 1 | g.209638555G= | CA2484304462 | LAMB3 | c.277C= (p.Arg93=) | |
| 1 | g.209638555G>T | CA344597624 | LAMB3 | c.277C>A (p.Arg93Ser) | gnomAD v4 |
| 1 | g.209638556C>A | CA344597626 | LAMB3 | c.276G>T (p.Met92Ile) | |
| 1 | g.209638556C>G | CA344597628 | LAMB3 | c.276G>C (p.Met92Ile) | |
| 1 | g.209638556C>T | CA344597630 | LAMB3 | c.276G>A (p.Met92Ile) | |
| 1 | g.209638557A= | CA1148410683 | LAMB3 | c.275T= (p.Met92=) | |
| 1 | g.209638557A>C | CA344597631 | LAMB3 | c.275T>G (p.Met92Arg) | |
| 1 | g.209638557A>G | CA1376052 | LAMB3 | c.275T>C (p.Met92Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638557A>T | CA344597635 | LAMB3 | c.275T>A (p.Met92Lys) | dbSNP gnomAD v4 |
| 1 | g.209638558T>A | CA344597638 | LAMB3 | c.274A>T (p.Met92Leu) | |
| 1 | g.209638558T>C | CA344597639 | LAMB3 | c.274A>G (p.Met92Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209638558T>G | CA344597641 | LAMB3 | c.274A>C (p.Met92Leu) | dbSNP |
| 1 | g.209638558T= | CA2484304463 | LAMB3 | c.274A= (p.Met92=) | |
| 1 | g.209638559G>A | CA423032953 | LAMB3 | c.273C>T (p.Pro91=) | gnomAD v4 |
| 1 | g.209638559G>C | CA423032954 | LAMB3 | c.273C>G (p.Pro91=) | |
| 1 | g.209638559G>T | CA423032955 | LAMB3 | c.273C>A (p.Pro91=) | |
| 1 | g.209638562del | CA2650323767 | LAMB3 | c.273del (p.Met92CysfsTer10) | gnomAD v4 |
| 1 | g.209638560G>A | CA344597648 | LAMB3 | c.272C>T (p.Pro91Leu) | |
| 1 | g.209638560G>C | CA344597646 | LAMB3 | c.272C>G (p.Pro91Arg) | |
| 1 | g.209638560G>T | CA344597644 | LAMB3 | c.272C>A (p.Pro91His) | |
| 1 | g.209638561G>A | CA344597649 | LAMB3 | c.271C>T (p.Pro91Ser) | gnomAD v4 |
| 1 | g.209638561G>C | CA344597650 | LAMB3 | c.271C>G (p.Pro91Ala) | |
| 1 | g.209638561G= | CA1143769717 | LAMB3 | c.271C= (p.Pro91=) | |
| 1 | g.209638561G>T | CA10609667 | LAMB3 | c.271C>A (p.Pro91Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638562G>A | CA423032957 | LAMB3 | c.270C>T (p.Gly90=) | gnomAD v4 |
| 1 | g.209638562G>C | CA423032958 | LAMB3 | c.270C>G (p.Gly90=) | |
| 1 | g.209638562G>T | CA423032959 | LAMB3 | c.270C>A (p.Gly90=) | |
| 1 | g.209638563C>A | CA344597660 | LAMB3 | c.269G>T (p.Gly90Val) | |
| 1 | g.209638563C= | CA2484304464 | LAMB3 | c.269G= (p.Gly90=) | |
| 1 | g.209638563C>G | CA344597661 | LAMB3 | c.269G>C (p.Gly90Ala) | |
| 1 | g.209638563C>T | CA1376053 | LAMB3 | c.269G>A (p.Gly90Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638564C>A | CA344597667 | LAMB3 | c.268G>T (p.Gly90Cys) | |
| 1 | g.209638564C= | CA2484304465 | LAMB3 | c.268G= (p.Gly90=) | |
| 1 | g.209638564C>G | CA344597665 | LAMB3 | c.268G>C (p.Gly90Arg) | gnomAD v4 |
| 1 | g.209638564C>T | CA1376054 | LAMB3 | c.268G>A (p.Gly90Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638565G>A | CA1376055 | LAMB3 | c.267C>T (p.Ser89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638565G>C | CA423032960 | LAMB3 | c.267C>G (p.Ser89=) | |
| 1 | g.209638565G= | CA1141954528 | LAMB3 | c.267C= (p.Ser89=) | |
| 1 | g.209638565G>T | CA1376056 | LAMB3 | c.267C>A (p.Ser89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209638566G>A | CA344597672 | LAMB3 | c.266C>T (p.Ser89Phe) | gnomAD v4 |
| 1 | g.209638566G>C | CA344597673 | LAMB3 | c.266C>G (p.Ser89Cys) | |
| 1 | g.209638566G>T | CA344597675 | LAMB3 | c.266C>A (p.Ser89Tyr) | |
| 1 | g.209638567A= | CA2484304466 | LAMB3 | c.265T= (p.Ser89=) | |
| 1 | g.209638567A>C | CA344597681 | LAMB3 | c.265T>G (p.Ser89Ala) | gnomAD v4 |
| 1 | g.209638567A>G | CA344597678 | LAMB3 | c.265T>C (p.Ser89Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209638567A>T | CA344597679 | LAMB3 | c.265T>A (p.Ser89Thr) | |
| 1 | g.209638568G>A | CA423032962 | LAMB3 | c.264C>T (p.Ser88=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209638568G>C | CA423032961 | LAMB3 | c.264C>G (p.Ser88=) | |
| 1 | g.209638568G= | CA2484304467 | LAMB3 | c.264C= (p.Ser88=) | |
| 1 | g.209638568G>T | CA423032963 | LAMB3 | c.264C>A (p.Ser88=) | |
| 1 | g.209638569G>A | CA344597683 | LAMB3 | c.263C>T (p.Ser88Phe) | gnomAD v4 COSMIC |
| 1 | g.209638569G>C | CA344597685 | LAMB3 | c.263C>G (p.Ser88Cys) | |
| 1 | g.209638569G>T | CA344597686 | LAMB3 | c.263C>A (p.Ser88Tyr) | |
| 1 | g.209638570A>C | CA344597690 | LAMB3 | c.262T>G (p.Ser88Ala) | |
| 1 | g.209638570A>G | CA344597691 | LAMB3 | c.262T>C (p.Ser88Pro) | |
| 1 | g.209638570A>T | CA344597694 | LAMB3 | c.262T>A (p.Ser88Thr) | |
| 1 | g.209638571T>A | CA423032964 | LAMB3 | c.261A>T (p.Ser87=) | |
| 1 | g.209638571T>C | CA423032965 | LAMB3 | c.261A>G (p.Ser87=) | |
| 1 | g.209638571T>G | CA423032966 | LAMB3 | c.261A>C (p.Ser87=) | gnomAD v4 |
| 1 | g.209638572G>A | CA344597695 | LAMB3 | c.260C>T (p.Ser87Leu) | gnomAD v4 |
| 1 | g.209638572G>C | CA344597697 | LAMB3 | c.260C>G (p.Ser87Ter) | |
| 1 | g.209638572G>T | CA344597699 | LAMB3 | c.260C>A (p.Ser87Ter) | |
| 1 | g.209638573A>C | CA344597702 | LAMB3 | c.259T>G (p.Ser87Ala) | |
| 1 | g.209638573A>G | CA344597703 | LAMB3 | c.259T>C (p.Ser87Pro) | gnomAD v4 |
| 1 | g.209638573A>T | CA344597705 | LAMB3 | c.259T>A (p.Ser87Thr) | |
| 1 | g.209638574A>C | CA423032967 | LAMB3 | c.258T>G (p.Ala86=) | |
| 1 | g.209638574A>G | CA423032968 | LAMB3 | c.258T>C (p.Ala86=) | COSMIC |
| 1 | g.209638574A>T | CA423032969 | LAMB3 | c.258T>A (p.Ala86=) | |
| 1 | g.209638575G>A | CA344597710 | LAMB3 | c.257C>T (p.Ala86Val) | |
| 1 | g.209638575G>C | CA344597706 | LAMB3 | c.257C>G (p.Ala86Gly) | |
| 1 | g.209638575G>T | CA344597707 | LAMB3 | c.257C>A (p.Ala86Asp) | |
| 1 | g.209638576C>A | CA344597713 | LAMB3 | c.256G>T (p.Ala86Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209638576C= | CA2484304468 | LAMB3 | c.256G= (p.Ala86=) | |
| 1 | g.209638576C>G | CA344597714 | LAMB3 | c.256G>C (p.Ala86Pro) | gnomAD v4 |
| 1 | g.209638576C>T | CA344597715 | LAMB3 | c.256G>A (p.Ala86Thr) | |
| 1 | g.209638577C>A | CA423032970 | LAMB3 | c.255G>T (p.Val85=) | |
| 1 | g.209638577C>G | CA423032971 | LAMB3 | c.255G>C (p.Val85=) | |
| 1 | g.209638577C>T | CA423032972 | LAMB3 | c.255G>A (p.Val85=) | ClinVar |
| 1 | g.209638578A>C | CA344597716 | LAMB3 | c.254T>G (p.Val85Gly) | |
| 1 | g.209638578A>G | CA344597717 | LAMB3 | c.254T>C (p.Val85Ala) | |
| 1 | g.209638578A>T | CA344597718 | LAMB3 | c.254T>A (p.Val85Glu) | |
| 1 | g.209638579C>A | CA344597724 | LAMB3 | c.253G>T (p.Val85Leu) | dbSNP |
| 1 | g.209638579C= | CA2484304469 | LAMB3 | c.253G= (p.Val85=) | |
| 1 | g.209638579C>G | CA344597720 | LAMB3 | c.253G>C (p.Val85Leu) | |
| 1 | g.209638579C>T | CA344597722 | LAMB3 | c.253G>A (p.Val85Met) | |
| 1 | g.209638580A>C | CA344597726 | LAMB3 | c.252T>G (p.Asn84Lys) | |
| 1 | g.209638580A>G | CA423032973 | LAMB3 | c.252T>C (p.Asn84=) | COSMIC |
| 1 | g.209638580A>T | CA344597728 | LAMB3 | c.252T>A (p.Asn84Lys) | |
| 1 | g.209638581T>A | CA344597729 | LAMB3 | c.251A>T (p.Asn84Ile) | |
| 1 | g.209638581T>C | CA344597731 | LAMB3 | c.251A>G (p.Asn84Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209638581T>G | CA344597737 | LAMB3 | c.251A>C (p.Asn84Thr) | gnomAD v4 |
| 1 | g.209638581T= | CA2484304470 | LAMB3 | c.251A= (p.Asn84=) | |
| 1 | g.209638582T>A | CA344597739 | LAMB3 | c.250A>T (p.Asn84Tyr) | |
| 1 | g.209638582T>C | CA344597743 | LAMB3 | c.250A>G (p.Asn84Asp) | |
| 1 | g.209638582T>G | CA344597740 | LAMB3 | c.250A>C (p.Asn84His) | |
| 1 | g.209638583C>A | CA344597745 | LAMB3 | c.249G>T (p.Glu83Asp) | |
| 1 | g.209638583C>G | CA344597746 | LAMB3 | c.249G>C (p.Glu83Asp) | |
| 1 | g.209638583C>T | CA423032975 | LAMB3 | c.249G>A (p.Glu83=) | |
| 1 | g.209638584T>A | CA344597747 | LAMB3 | c.248A>T (p.Glu83Val) | |
| 1 | g.209638584T>C | CA344597749 | LAMB3 | c.248A>G (p.Glu83Gly) | |
| 1 | g.209638584T>G | CA344597752 | LAMB3 | c.248A>C (p.Glu83Ala) | |
| 1 | g.209638585C>A | CA344597754 | LAMB3 | c.247G>T (p.Glu83Ter) | |
| 1 | g.209638585C>G | CA344597756 | LAMB3 | c.247G>C (p.Glu83Gln) | |
| 1 | g.209638585C>T | CA344597758 | LAMB3 | c.247G>A (p.Glu83Lys) | |
| 1 | g.209638586T>A | CA423032976 | LAMB3 | c.246A>T (p.Val82=) | |
| 1 | g.209638586T>C | CA423032977 | LAMB3 | c.246A>G (p.Val82=) | |
| 1 | g.209638586T>G | CA423032978 | LAMB3 | c.246A>C (p.Val82=) | |
| 1 | g.209638587A>C | CA344597760 | LAMB3 | c.245T>G (p.Val82Gly) | |
| 1 | g.209638587A>G | CA344597762 | LAMB3 | c.245T>C (p.Val82Ala) | |
| 1 | g.209638587A>T | CA344597764 | LAMB3 | c.245T>A (p.Val82Glu) | |
| 1 | g.209638588C>A | CA344597767 | LAMB3 | c.244G>T (p.Val82Leu) | |
| 1 | g.209638588C>G | CA344597770 | LAMB3 | c.244G>C (p.Val82Leu) | |
| 1 | g.209638588C>T | CA344597769 | LAMB3 | c.244G>A (p.Val82Ile) | gnomAD v4 |
| 1 | g.209638589T>A | CA423032981 | LAMB3 | c.243A>T (p.Arg81=) | |
| 1 | g.209638589T>C | CA423032982 | LAMB3 | c.243A>G (p.Arg81=) | |
| 1 | g.209638589T>G | CA423032983 | LAMB3 | c.243A>C (p.Arg81=) | |
| 1 | g.209638590C>A | CA344597773 | LAMB3 | c.242G>T (p.Arg81Leu) | COSMIC |
| 1 | g.209638590C= | CA2484304471 | LAMB3 | c.242G= (p.Arg81=) | |
| 1 | g.209638590C>G | CA344597776 | LAMB3 | c.242G>C (p.Arg81Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209638590C>T | CA36761961 | LAMB3 | c.242G>A (p.Arg81Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638591G>A | CA16617045 | LAMB3 | c.241C>T (p.Arg81Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209638591G>C | CA344597778 | LAMB3 | c.241C>G (p.Arg81Gly) | |
| 1 | g.209638591G= | CA2484304472 | LAMB3 | c.241C= (p.Arg81=) | |
| 1 | g.209638591G>T | CA423032984 | LAMB3 | c.241C>A (p.Arg81=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209638592G>A | CA423032985 | LAMB3 | c.240C>T (p.His80=) | dbSNP |
| 1 | g.209638592G>C | CA344597780 | LAMB3 | c.240C>G (p.His80Gln) | |
| 1 | g.209638592G= | CA2484304473 | LAMB3 | c.240C= (p.His80=) | |
| 1 | g.209638592G>T | CA344597781 | LAMB3 | c.240C>A (p.His80Gln) | |
| 1 | g.209638593_209638594del | CA2580061987 | LAMB3 | c.239_240del (p.His80ProfsTer20) | ClinVar |
| 1 | g.209638593T>A | CA344597784 | LAMB3 | c.239A>T (p.His80Leu) | |
| 1 | g.209638593T>C | CA344597788 | LAMB3 | c.239A>G (p.His80Arg) | |
| 1 | g.209638593T>G | CA344597790 | LAMB3 | c.239A>C (p.His80Pro) | |
| 1 | g.209638594G>A | CA344597792 | LAMB3 | c.238C>T (p.His80Tyr) | |
| 1 | g.209638594G>C | CA344597794 | LAMB3 | c.238C>G (p.His80Asp) | gnomAD v4 |
| 1 | g.209638594G>T | CA344597795 | LAMB3 | c.238C>A (p.His80Asn) | |
| 1 | g.209638595A>C | CA344597798 | LAMB3 | c.237T>G (p.Ser79Arg) | |
| 1 | g.209638595A>G | CA423032986 | LAMB3 | c.237T>C (p.Ser79=) | |
| 1 | g.209638595A>T | CA344597800 | LAMB3 | c.237T>A (p.Ser79Arg) | |
| 1 | g.209638596C>A | CA344597802 | LAMB3 | c.236G>T (p.Ser79Ile) | |
| 1 | g.209638596C>G | CA344597804 | LAMB3 | c.236G>C (p.Ser79Thr) | |
| 1 | g.209638596C>T | CA344597806 | LAMB3 | c.236G>A (p.Ser79Asn) | |
| 1 | g.209638597T>A | CA344597807 | LAMB3 | c.235A>T (p.Ser79Cys) | |
| 1 | g.209638597T>C | CA344597809 | LAMB3 | c.235A>G (p.Ser79Gly) | |
| 1 | g.209638597T>G | CA344597808 | LAMB3 | c.235A>C (p.Ser79Arg) | |
| 1 | g.209638598G>A | CA423032987 | LAMB3 | c.234C>T (p.Tyr78=) | |
| 1 | g.209638598G>C | CA344597810 | LAMB3 | c.234C>G (p.Tyr78Ter) | |
| 1 | g.209638598G>T | CA344597811 | LAMB3 | c.234C>A (p.Tyr78Ter) | |
| 1 | g.209638599T>A | CA344597812 | LAMB3 | c.233A>T (p.Tyr78Phe) | |
| 1 | g.209638599T>C | CA344597813 | LAMB3 | c.233A>G (p.Tyr78Cys) | gnomAD v4 COSMIC |
| 1 | g.209638599T>G | CA344597814 | LAMB3 | c.233A>C (p.Tyr78Ser) | |
| 1 | g.209638600A>C | CA344597815 | LAMB3 | c.232T>G (p.Tyr78Asp) | |
| 1 | g.209638600A>G | CA344597816 | LAMB3 | c.232T>C (p.Tyr78His) | |
| 1 | g.209638600A>T | CA344597817 | LAMB3 | c.232T>A (p.Tyr78Asn) | |
| 1 | g.209638601G>A | CA423032988 | LAMB3 | c.231C>T (p.Tyr77=) | COSMIC |
| 1 | g.209638601G>C | CA344597818 | LAMB3 | c.231C>G (p.Tyr77Ter) | gnomAD v4 |
| 1 | g.209638601G>T | CA344597819 | LAMB3 | c.231C>A (p.Tyr77Ter) | |
| 1 | g.209638602T>A | CA344597822 | LAMB3 | c.230A>T (p.Tyr77Phe) | |
| 1 | g.209638602T>C | CA344597821 | LAMB3 | c.230A>G (p.Tyr77Cys) | |
| 1 | g.209638602T>G | CA344597820 | LAMB3 | c.230A>C (p.Tyr77Ser) | |
| 1 | g.209638603A>C | CA344597823 | LAMB3 | c.229T>G (p.Tyr77Asp) | |
| 1 | g.209638603A>G | CA344597824 | LAMB3 | c.229T>C (p.Tyr77His) | |
| 1 | g.209638603A>T | CA344597825 | LAMB3 | c.229T>A (p.Tyr77Asn) | |
| 1 | g.209638604G>A | CA423032989 | LAMB3 | c.228C>T (p.Asn76=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209638604G>C | CA344597826 | LAMB3 | c.228C>G (p.Asn76Lys) | |
| 1 | g.209638604G>T | CA344597827 | LAMB3 | c.228C>A (p.Asn76Lys) | |
| 1 | g.209638605T>A | CA344597828 | LAMB3 | c.227A>T (p.Asn76Ile) | |
| 1 | g.209638605T>C | CA344597829 | LAMB3 | c.227A>G (p.Asn76Ser) | |
| 1 | g.209638605T>G | CA344597830 | LAMB3 | c.227A>C (p.Asn76Thr) | |
| 1 | g.209638605_209638607delinsTTG | CA2484304474 | LAMB3 | c.225_227delinsCAA (p.His75=) | |
| 1 | g.209638606T>A | CA344597831 | LAMB3 | c.226A>T (p.Asn76Tyr) | |
| 1 | g.209638606T>C | CA344597832 | LAMB3 | c.226A>G (p.Asn76Asp) | gnomAD v4 |
| 1 | g.209638606T>G | CA344597833 | LAMB3 | c.226A>C (p.Asn76His) | COSMIC |
| 1 | g.209638608_209638609del | CA10608886 | LAMB3 | c.225_226del (p.His75GlnfsTer25) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209638607G>A | CA423032990 | LAMB3 | c.225C>T (p.His75=) | |
| 1 | g.209638607G>C | CA344597835 | LAMB3 | c.225C>G (p.His75Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638607G= | CA2484304475 | LAMB3 | c.225C= (p.His75=) | |
| 1 | g.209638607G>T | CA344597834 | LAMB3 | c.225C>A (p.His75Gln) | |
| 1 | g.209638608_209638612del | CA2499214428 | LAMB3 | c.221_225del (p.Pro74GlnfsTer25) | ClinVar dbSNP |
| 1 | g.209638608T>A | CA344597836 | LAMB3 | c.224A>T (p.His75Leu) | |
| 1 | g.209638608T>C | CA344597837 | LAMB3 | c.224A>G (p.His75Arg) | gnomAD v4 |
| 1 | g.209638608T>G | CA344597838 | LAMB3 | c.224A>C (p.His75Pro) | |
| 1 | g.209638609G>A | CA344597839 | LAMB3 | c.223C>T (p.His75Tyr) | |
| 1 | g.209638609G>C | CA344597840 | LAMB3 | c.223C>G (p.His75Asp) | |
| 1 | g.209638609G>T | CA344597841 | LAMB3 | c.223C>A (p.His75Asn) | |
| 1 | g.209638610_209638611del | CA2580061988 | LAMB3 | c.222_223del (p.His75GlnfsTer25) | ClinVar |
| 1 | g.209638610A>C | CA423032992 | LAMB3 | c.222T>G (p.Pro74=) | |
| 1 | g.209638610A>G | CA423032994 | LAMB3 | c.222T>C (p.Pro74=) | |
| 1 | g.209638610A>T | CA423032993 | LAMB3 | c.222T>A (p.Pro74=) | |
| 1 | g.209638611G>A | CA344597842 | LAMB3 | c.221C>T (p.Pro74Leu) | gnomAD v4 |
| 1 | g.209638611G>C | CA344597843 | LAMB3 | c.221C>G (p.Pro74Arg) | |
| 1 | g.209638611G>T | CA344597844 | LAMB3 | c.221C>A (p.Pro74His) | COSMIC |
| 1 | g.209638612G>A | CA344597845 | LAMB3 | c.220C>T (p.Pro74Ser) | |
| 1 | g.209638612G>C | CA344597846 | LAMB3 | c.220C>G (p.Pro74Ala) | |
| 1 | g.209638612G>T | CA344597847 | LAMB3 | c.220C>A (p.Pro74Thr) | |
| 1 | g.209638613C>A | CA344597849 | LAMB3 | c.219G>T (p.Gln73His) | |
| 1 | g.209638613C= | CA2484304476 | LAMB3 | c.219G= (p.Gln73=) | |
| 1 | g.209638613C>G | CA344597848 | LAMB3 | c.219G>C (p.Gln73His) | |
| 1 | g.209638613C>T | CA1376057 | LAMB3 | c.219G>A (p.Gln73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638614T>A | CA344597850 | LAMB3 | c.218A>T (p.Gln73Leu) | |
| 1 | g.209638614T>C | CA344597852 | LAMB3 | c.218A>G (p.Gln73Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638614T>G | CA344597851 | LAMB3 | c.218A>C (p.Gln73Pro) | ClinVar |
| 1 | g.209638614T= | CA2484304477 | LAMB3 | c.218A= (p.Gln73=) | |
| 1 | g.209638615G>A | CA1376058 | LAMB3 | c.217C>T (p.Gln73Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209638615G>C | CA344597853 | LAMB3 | c.217C>G (p.Gln73Glu) | |
| 1 | g.209638615G= | CA2484304478 | LAMB3 | c.217C= (p.Gln73=) | |
| 1 | g.209638615G>T | CA344597854 | LAMB3 | c.217C>A (p.Gln73Lys) | |
| 1 | g.209638616C>A | CA344597855 | LAMB3 | c.216G>T (p.Arg72Ser) | COSMIC |
| 1 | g.209638616C= | CA2484304479 | LAMB3 | c.216G= (p.Arg72=) | |
| 1 | g.209638616C>G | CA344597856 | LAMB3 | c.216G>C (p.Arg72Ser) | |
| 1 | g.209638616C>T | CA1376059 | LAMB3 | c.216G>A (p.Arg72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638617C>A | CA344597857 | LAMB3 | c.215G>T (p.Arg72Met) | |
| 1 | g.209638617C= | CA2484304480 | LAMB3 | c.215G= (p.Arg72=) | |
| 1 | g.209638617C>G | CA344597858 | LAMB3 | c.215G>C (p.Arg72Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209638617C>T | CA344597859 | LAMB3 | c.215G>A (p.Arg72Lys) | |
| 1 | g.209638618T>A | CA344597860 | LAMB3 | c.214A>T (p.Arg72Trp) | |
| 1 | g.209638618T>C | CA344597861 | LAMB3 | c.214A>G (p.Arg72Gly) | |
| 1 | g.209638618T>G | CA423032995 | LAMB3 | c.214A>C (p.Arg72=) | |
| 1 | g.209638618_209638619delinsTG | CA2484304481 | LAMB3 | c.213_214delinsCA (p.Ser71=) | |
| 1 | g.209638619G>A | CA1376061 | LAMB3 | c.213C>T (p.Ser71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638619G>C | CA423032996 | LAMB3 | c.213C>G (p.Ser71=) | |
| 1 | g.209638619G= | CA1147250378 | LAMB3 | c.213C= (p.Ser71=) | |
| 1 | g.209638619G>T | CA423032997 | LAMB3 | c.213C>A (p.Ser71=) | |
| 1 | g.209638620del | CA1376060 | LAMB3 | c.213del (p.Arg72GlyfsTer11) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209638620G>A | CA1376062 | LAMB3 | c.212C>T (p.Ser71Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209638620G>C | CA344597862 | LAMB3 | c.212C>G (p.Ser71Cys) | gnomAD v4 COSMIC |
| 1 | g.209638620G= | CA2484304482 | LAMB3 | c.212C= (p.Ser71=) | |
| 1 | g.209638620G>T | CA344597863 | LAMB3 | c.212C>A (p.Ser71Tyr) | |
| 1 | g.209638621A>C | CA344597864 | LAMB3 | c.211T>G (p.Ser71Ala) | |
| 1 | g.209638621A>G | CA344597865 | LAMB3 | c.211T>C (p.Ser71Pro) | |
| 1 | g.209638621A>T | CA344597866 | LAMB3 | c.211T>A (p.Ser71Thr) | |
| 1 | g.209638622G>A | CA423032998 | LAMB3 | c.210C>T (p.Asp70=) | ClinVar gnomAD v4 |
| 1 | g.209638622G>C | CA344597867 | LAMB3 | c.210C>G (p.Asp70Glu) | |
| 1 | g.209638622G>T | CA344597868 | LAMB3 | c.210C>A (p.Asp70Glu) | |
| 1 | g.209638623T>A | CA344597869 | LAMB3 | c.209A>T (p.Asp70Val) | |
| 1 | g.209638623T>C | CA344597870 | LAMB3 | c.209A>G (p.Asp70Gly) | |
| 1 | g.209638623T>G | CA344597871 | LAMB3 | c.209A>C (p.Asp70Ala) | |
| 1 | g.209638624C>A | CA344597873 | LAMB3 | c.208G>T (p.Asp70Tyr) | |
| 1 | g.209638624C>G | CA344597874 | LAMB3 | c.208G>C (p.Asp70His) | |
| 1 | g.209638624C>T | CA344597872 | LAMB3 | c.208G>A (p.Asp70Asn) | COSMIC |
| 1 | g.209638627_209638628dup | CA2580611230 | LAMB3 | c.207_208dup (p.Asp70ValfsTer14) | ClinVar |
| 1 | g.209638625A>C | CA344597875 | LAMB3 | c.207T>G (p.Cys69Trp) | |
| 1 | g.209638625A>G | CA423032999 | LAMB3 | c.207T>C (p.Cys69=) | |
| 1 | g.209638625A>T | CA344597876 | LAMB3 | c.207T>A (p.Cys69Ter) | |
| 1 | g.209638626C>A | CA344597877 | LAMB3 | c.206G>T (p.Cys69Phe) | |
| 1 | g.209638626C>G | CA344597878 | LAMB3 | c.206G>C (p.Cys69Ser) | |
| 1 | g.209638626C>T | CA344597879 | LAMB3 | c.206G>A (p.Cys69Tyr) | gnomAD v4 |
| 1 | g.209638627A>C | CA344597880 | LAMB3 | c.205T>G (p.Cys69Gly) | |
| 1 | g.209638627A>G | CA344597881 | LAMB3 | c.205T>C (p.Cys69Arg) | |
| 1 | g.209638627A>T | CA344597882 | LAMB3 | c.205T>A (p.Cys69Ser) | |
| 1 | g.209638628C>A | CA344597883 | LAMB3 | c.204G>T (p.Lys68Asn) | |
| 1 | g.209638628C>G | CA344597884 | LAMB3 | c.204G>C (p.Lys68Asn) | |
| 1 | g.209638628C>T | CA423033000 | LAMB3 | c.204G>A (p.Lys68=) | COSMIC |
| 1 | g.209638629T>A | CA344597885 | LAMB3 | c.203A>T (p.Lys68Met) | gnomAD v3 gnomAD v4 |
| 1 | g.209638629T>C | CA344597886 | LAMB3 | c.203A>G (p.Lys68Arg) | |
| 1 | g.209638629T>G | CA344597887 | LAMB3 | c.203A>C (p.Lys68Thr) | |
| 1 | g.209638630T>A | CA344597890 | LAMB3 | c.202A>T (p.Lys68Ter) | ClinVar dbSNP |
| 1 | g.209638630T>C | CA344597889 | LAMB3 | c.202A>G (p.Lys68Glu) | |
| 1 | g.209638630T>G | CA344597888 | LAMB3 | c.202A>C (p.Lys68Gln) | |
| 1 | g.209638630T= | CA2484304483 | LAMB3 | c.202A= (p.Lys68=) | |
| 1 | g.209638631G>A | CA423033001 | LAMB3 | c.201C>T (p.Cys67=) | gnomAD v4 |
| 1 | g.209638631G>C | CA344597891 | LAMB3 | c.201C>G (p.Cys67Trp) | |
| 1 | g.209638631G>T | CA344597892 | LAMB3 | c.201C>A (p.Cys67Ter) | |
| 1 | g.209638632C>A | CA344597893 | LAMB3 | c.200G>T (p.Cys67Phe) | |
| 1 | g.209638632C= | CA2484304484 | LAMB3 | c.200G= (p.Cys67=) | |
| 1 | g.209638632C>G | CA344597894 | LAMB3 | c.200G>C (p.Cys67Ser) | |
| 1 | g.209638632C>T | CA344597895 | LAMB3 | c.200G>A (p.Cys67Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209638633A= | CA2484304485 | LAMB3 | c.199T= (p.Cys67=) | |
| 1 | g.209638633A>C | CA344597896 | LAMB3 | c.199T>G (p.Cys67Gly) | |
| 1 | g.209638633A>G | CA344597897 | LAMB3 | c.199T>C (p.Cys67Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209638633A>T | CA344597898 | LAMB3 | c.199T>A (p.Cys67Ser) | |
| 1 | g.209638634G>A | CA423033002 | LAMB3 | c.198C>T (p.Cys66=) | |
| 1 | g.209638634G>C | CA344597899 | LAMB3 | c.198C>G (p.Cys66Trp) | |
| 1 | g.209638634G>T | CA344597900 | LAMB3 | c.198C>A (p.Cys66Ter) | |
| 1 | g.209638635C>A | CA344597901 | LAMB3 | c.197G>T (p.Cys66Phe) | |
| 1 | g.209638635C>G | CA344597902 | LAMB3 | c.197G>C (p.Cys66Ser) | |
| 1 | g.209638635C>T | CA344597903 | LAMB3 | c.197G>A (p.Cys66Tyr) |