| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.100390539T>A | CA365297615 | SIM1 | c.2123A>T (p.Lys708Met) | |
| 6 | g.100390539T>C | CA16618228 | SIM1 | c.2123A>G (p.Lys708Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.100390539T>G | CA365297616 | SIM1 | c.2123A>C (p.Lys708Thr) | |
| 6 | g.100390539T= | CA1650583925 | SIM1 | c.2123A= (p.Lys708=) | |
| 6 | g.100390540T>A | CA365297617 | SIM1 | c.2122A>T (p.Lys708Ter) | |
| 6 | g.100390540T>C | CA365297619 | SIM1 | c.2122A>G (p.Lys708Glu) | |
| 6 | g.100390540T>G | CA365297618 | SIM1 | c.2122A>C (p.Lys708Gln) | |
| 6 | g.100390541G>A | CA451586145 | SIM1 | c.2121C>T (p.Asp707=) | gnomAD v4 |
| 6 | g.100390541G>C | CA365297620 | SIM1 | c.2121C>G (p.Asp707Glu) | |
| 6 | g.100390541G= | CA1650583926 | SIM1 | c.2121C= (p.Asp707=) | |
| 6 | g.100390541G>T | CA144530187 | SIM1 | c.2121C>A (p.Asp707Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.100390542T>A | CA365297621 | SIM1 | c.2120A>T (p.Asp707Val) | |
| 6 | g.100390542T>C | CA365297622 | SIM1 | c.2120A>G (p.Asp707Gly) | |
| 6 | g.100390542T>G | CA365297623 | SIM1 | c.2120A>C (p.Asp707Ala) | |
| 6 | g.100390543C>A | CA144530188 | SIM1 | c.2119G>T (p.Asp707Tyr) | dbSNP |
| 6 | g.100390543C= | CA1650583927 | SIM1 | c.2119G= (p.Asp707=) | |
| 6 | g.100390543C>G | CA3936871 | SIM1 | c.2119G>C (p.Asp707His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.100390543C>T | CA365297624 | SIM1 | c.2119G>A (p.Asp707Asn) | |
| 6 | g.100390543_100390544delinsCA | CA1650583928 | SIM1 | c.2118_2119delinsTG (p.Phe706=) | |
| 6 | g.100390544A>C | CA365297625 | SIM1 | c.2118T>G (p.Phe706Leu) | dbSNP |
| 6 | g.100390544A>G | CA451586148 | SIM1 | c.2118T>C (p.Phe706=) | |
| 6 | g.100390544A>T | CA365297626 | SIM1 | c.2118T>A (p.Phe706Leu) | |
| 6 | g.100390547del | CA816236028 | SIM1 | c.2118del (p.Phe706LeufsTer8) | dbSNP |
| 6 | g.100390545A>C | CA365297627 | SIM1 | c.2117T>G (p.Phe706Cys) | |
| 6 | g.100390545A>G | CA365297628 | SIM1 | c.2117T>C (p.Phe706Ser) | |
| 6 | g.100390545A>T | CA365297629 | SIM1 | c.2117T>A (p.Phe706Tyr) | |
| 6 | g.100390546A>C | CA365297632 | SIM1 | c.2116T>G (p.Phe706Val) | |
| 6 | g.100390546A>G | CA365297631 | SIM1 | c.2116T>C (p.Phe706Leu) | |
| 6 | g.100390546A>T | CA365297630 | SIM1 | c.2116T>A (p.Phe706Ile) | |
| 6 | g.100390547A>C | CA365297633 | SIM1 | c.2115T>G (p.Tyr705Ter) | |
| 6 | g.100390547A>G | CA451586150 | SIM1 | c.2115T>C (p.Tyr705=) | |
| 6 | g.100390547A>T | CA365297634 | SIM1 | c.2115T>A (p.Tyr705Ter) | |
| 6 | g.100390548T>A | CA365297635 | SIM1 | c.2114A>T (p.Tyr705Phe) | |
| 6 | g.100390548T>C | CA365297636 | SIM1 | c.2114A>G (p.Tyr705Cys) | |
| 6 | g.100390548T>G | CA365297637 | SIM1 | c.2114A>C (p.Tyr705Ser) | |
| 6 | g.100390549A>C | CA365297638 | SIM1 | c.2113T>G (p.Tyr705Asp) | |
| 6 | g.100390549A>G | CA365297639 | SIM1 | c.2113T>C (p.Tyr705His) | |
| 6 | g.100390549A>T | CA365297640 | SIM1 | c.2113T>A (p.Tyr705Asn) | |
| 6 | g.100390550C>A | CA365297641 | SIM1 | c.2112G>T (p.Gln704His) | COSMIC |
| 6 | g.100390550C>G | CA365297642 | SIM1 | c.2112G>C (p.Gln704His) | |
| 6 | g.100390550C>T | CA451586153 | SIM1 | c.2112G>A (p.Gln704=) | |
| 6 | g.100390551T>A | CA10622504 | SIM1 | c.2111A>T (p.Gln704Leu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.100390551T>C | CA365297643 | SIM1 | c.2111A>G (p.Gln704Arg) | |
| 6 | g.100390551T>G | CA365297644 | SIM1 | c.2111A>C (p.Gln704Pro) | |
| 6 | g.100390551T= | CA1650583929 | SIM1 | c.2111A= (p.Gln704=) | |
| 6 | g.100390552G>A | CA365297646 | SIM1 | c.2110C>T (p.Gln704Ter) | |
| 6 | g.100390552G>C | CA3936872 | SIM1 | c.2110C>G (p.Gln704Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.100390552G= | CA1650583930 | SIM1 | c.2110C= (p.Gln704=) | |
| 6 | g.100390552G>T | CA365297645 | SIM1 | c.2110C>A (p.Gln704Lys) | |
| 6 | g.100390553C>A | CA451586155 | SIM1 | c.2109G>T (p.Arg703=) | gnomAD v4 |