Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209623974T>A | CA344588946 | LAMB3 | c.2003A>T (p.Asp668Val) c.1811A>T (p.Asp604Val) | |
1 | g.209623974T>C | CA344588947 | LAMB3 | c.2003A>G (p.Asp668Gly) c.1811A>G (p.Asp604Gly) | |
1 | g.209623974T>G | CA344588948 | LAMB3 | c.2003A>C (p.Asp668Ala) c.1811A>C (p.Asp604Ala) | |
1 | g.209623975C>A | CA344588949 | LAMB3 | c.2002G>T (p.Asp668Tyr) c.1810G>T (p.Asp604Tyr) | |
1 | g.209623975C= | CA2484298457 | LAMB3 | c.2002G= (p.Asp668=) c.1810G= (p.Asp604=) | |
1 | g.209623975C>G | CA344588950 | LAMB3 | c.2002G>C (p.Asp668His) c.1810G>C (p.Asp604His) | |
1 | g.209623975C>T | CA344588951 | LAMB3 | c.2002G>A (p.Asp668Asn) c.1810G>A (p.Asp604Asn) | dbSNP gnomAD v4 |
1 | g.209623976C>A | CA423142518 | LAMB3 | c.2001G>T (p.Leu667=) c.1809G>T (p.Leu603=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209623976C= | CA2484298458 | LAMB3 | c.2001G= (p.Leu667=) c.1809G= (p.Leu603=) | |
1 | g.209623976C>G | CA423142520 | LAMB3 | c.2001G>C (p.Leu667=) c.1809G>C (p.Leu603=) | |
1 | g.209623976C>T | CA423142521 | LAMB3 | c.2001G>A (p.Leu667=) c.1809G>A (p.Leu603=) | gnomAD v4 |
1 | g.209623977A>C | CA344588952 | LAMB3 | c.2000T>G (p.Leu667Arg) c.1808T>G (p.Leu603Arg) | |
1 | g.209623977A>G | CA344588953 | LAMB3 | c.2000T>C (p.Leu667Pro) c.1808T>C (p.Leu603Pro) | |
1 | g.209623977A>T | CA344588954 | LAMB3 | c.2000T>A (p.Leu667Gln) c.1808T>A (p.Leu603Gln) | |
1 | g.209623978G>A | CA423142526 | LAMB3 | c.1999C>T (p.Leu667=) c.1807C>T (p.Leu603=) | |
1 | g.209623978G>C | CA344588955 | LAMB3 | c.1999C>G (p.Leu667Val) c.1807C>G (p.Leu603Val) | |
1 | g.209623978G>T | CA344588956 | LAMB3 | c.1999C>A (p.Leu667Met) c.1807C>A (p.Leu603Met) | |
1 | g.209623979C>A | CA344588957 | LAMB3 | c.1998G>T (p.Gln666His) c.1806G>T (p.Gln602His) | |
1 | g.209623979C>G | CA344588958 | LAMB3 | c.1998G>C (p.Gln666His) c.1806G>C (p.Gln602His) | |
1 | g.209623979C>T | CA423142530 | LAMB3 | c.1998G>A (p.Gln666=) c.1806G>A (p.Gln602=) | |
1 | g.209623980T>A | CA344588959 | LAMB3 | c.1997A>T (p.Gln666Leu) c.1805A>T (p.Gln602Leu) | |
1 | g.209623980T>C | CA344588960 | LAMB3 | c.1997A>G (p.Gln666Arg) c.1805A>G (p.Gln602Arg) | |
1 | g.209623980T>G | CA344588961 | LAMB3 | c.1997A>C (p.Gln666Pro) c.1805A>C (p.Gln602Pro) | |
1 | g.209623981G>A | CA344588962 | LAMB3 | c.1996C>T (p.Gln666Ter) c.1804C>T (p.Gln602Ter) | gnomAD v4 |
1 | g.209623981G>C | CA344588963 | LAMB3 | c.1996C>G (p.Gln666Glu) c.1804C>G (p.Gln602Glu) | |
1 | g.209623981G>T | CA344588964 | LAMB3 | c.1996C>A (p.Gln666Lys) c.1804C>A (p.Gln602Lys) | gnomAD v4 |
1 | g.209623982C>A | CA423142538 | LAMB3 | c.1995G>T (p.Leu665=) c.1803G>T (p.Leu601=) | |
1 | g.209623982C= | CA2484298459 | LAMB3 | c.1995G= (p.Leu665=) c.1803G= (p.Leu601=) | |
1 | g.209623982C>G | CA423142539 | LAMB3 | c.1995G>C (p.Leu665=) c.1803G>C (p.Leu601=) | |
1 | g.209623982C>T | CA1375405 | LAMB3 | c.1995G>A (p.Leu665=) c.1803G>A (p.Leu601=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209623983A>C | CA344588965 | LAMB3 | c.1994T>G (p.Leu665Arg) c.1802T>G (p.Leu601Arg) | |
1 | g.209623983A>G | CA344588966 | LAMB3 | c.1994T>C (p.Leu665Pro) c.1802T>C (p.Leu601Pro) | |
1 | g.209623983A>T | CA344588967 | LAMB3 | c.1994T>A (p.Leu665Gln) c.1802T>A (p.Leu601Gln) | |
1 | g.209623984G>A | CA423142543 | LAMB3 | c.1993C>T (p.Leu665=) c.1801C>T (p.Leu601=) | |
1 | g.209623984G>C | CA344588968 | LAMB3 | c.1993C>G (p.Leu665Val) c.1801C>G (p.Leu601Val) | |
1 | g.209623984G>T | CA344588969 | LAMB3 | c.1993C>A (p.Leu665Met) c.1801C>A (p.Leu601Met) | |
1 | g.209623985G>A | CA423142546 | LAMB3 | c.1992C>T (p.Gly664=) c.1800C>T (p.Gly600=) | gnomAD v3 gnomAD v4 |
1 | g.209623985G>C | CA423142549 | LAMB3 | c.1992C>G (p.Gly664=) c.1800C>G (p.Gly600=) | |
1 | g.209623985G>T | CA423142544 | LAMB3 | c.1992C>A (p.Gly664=) c.1800C>A (p.Gly600=) | |
1 | g.209623986C>A | CA344588972 | LAMB3 | c.1991G>T (p.Gly664Val) c.1799G>T (p.Gly600Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209623986C= | CA2484298460 | LAMB3 | c.1991G= (p.Gly664=) c.1799G= (p.Gly600=) | |
1 | g.209623986C>G | CA344588970 | LAMB3 | c.1991G>C (p.Gly664Ala) c.1799G>C (p.Gly600Ala) | |
1 | g.209623986C>T | CA344588971 | LAMB3 | c.1991G>A (p.Gly664Asp) c.1799G>A (p.Gly600Asp) | dbSNP gnomAD v4 |
1 | g.209623987C>A | CA344588973 | LAMB3 | c.1990G>T (p.Gly664Cys) c.1798G>T (p.Gly600Cys) | |
1 | g.209623987C>G | CA344588974 | LAMB3 | c.1990G>C (p.Gly664Arg) c.1798G>C (p.Gly600Arg) | |
1 | g.209623987C>T | CA344588975 | LAMB3 | c.1990G>A (p.Gly664Ser) c.1798G>A (p.Gly600Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209623988C>A | CA344588976 | LAMB3 | c.1989G>T (p.Gln663His) c.1797G>T (p.Gln599His) | |
1 | g.209623988C= | CA1147492737 | LAMB3 | c.1989G= (p.Gln663=) c.1797G= (p.Gln599=) | |
1 | g.209623988C>G | CA1375406 | LAMB3 | c.1989G>C (p.Gln663His) c.1797G>C (p.Gln599His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209623988C>T | CA423142553 | LAMB3 | c.1989G>A (p.Gln663=) c.1797G>A (p.Gln599=) |