Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18599559A>C | CA2583603675 | CRLF1 | c.397+6T>G (n.397+6T>G) c.331+6T>G (n.331+6T>G) | gnomAD v4 |
19 | g.18599560C>T | CA2583603676 | CRLF1 | c.397+5G>A (n.397+5G>A) c.331+5G>A (n.331+5G>A) | gnomAD v4 |
19 | g.18599561T>C | CA2326433768 | CRLF1 | c.397+4A>G (n.397+4A>G) c.331+4A>G (n.331+4A>G) | dbSNP |
19 | g.18599561T= | CA2326433769 | CRLF1 | c.397+4A= (n.397+4A=) c.331+4A= (n.331+4A=) | |
19 | g.18599562T= | CA2326433770 | CRLF1 | c.397+3A= (n.397+3A=) c.331+3A= (n.331+3A=) | |
19 | g.18599563A>C | CA404851789 | CRLF1 | c.397+2T>G (n.397+2T>G) c.331+2T>G (n.331+2T>G) | |
19 | g.18599563A>G | CA404851790 | CRLF1 | c.397+2T>C (n.397+2T>C) c.331+2T>C (n.331+2T>C) | |
19 | g.18599563A>T | CA404851791 | CRLF1 | c.397+2T>A (n.397+2T>A) c.331+2T>A (n.331+2T>A) | |
19 | g.18599563dup | CA632626405 | CRLF1 | c.397+2dup (n.397+2dup) c.331+2dup (n.331+2dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599564C>A | CA404851792 | CRLF1 | c.397+1G>T (n.397+1G>T) c.331+1G>T (n.331+1G>T) | |
19 | g.18599564C= | CA2326433771 | CRLF1 | c.397+1G= (n.397+1G=) c.331+1G= (n.331+1G=) | |
19 | g.18599564C>G | CA404851793 | CRLF1 | c.397+1G>C (n.397+1G>C) c.331+1G>C (n.331+1G>C) | |
19 | g.18599564C>T | CA342063 | CRLF1 | c.397+1G>A (n.397+1G>A) c.331+1G>A (n.331+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599565G>A | CA9314267 | CRLF1 | c.397C>T (p.Leu133=) c.331C>T (p.Leu111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599565G>C | CA404851795 | CRLF1 | c.397C>G (p.Leu133Val) c.331C>G (p.Leu111Val) | |
19 | g.18599565G= | CA2326433772 | CRLF1 | c.397C= (p.Leu133=) c.331C= (p.Leu111=) | |
19 | g.18599565G>T | CA404851794 | CRLF1 | c.397C>A (p.Leu133Met) c.331C>A (p.Leu111Met) | |
19 | g.18599566G>A | CA506044548 | CRLF1 | c.396C>T (p.Gly132=) c.330C>T (p.Gly110=) | gnomAD v4 |
19 | g.18599566G>C | CA506044546 | CRLF1 | c.396C>G (p.Gly132=) c.330C>G (p.Gly110=) | |
19 | g.18599566G>T | CA506044547 | CRLF1 | c.396C>A (p.Gly132=) c.330C>A (p.Gly110=) | |
19 | g.18599567C>A | CA404851796 | CRLF1 | c.395G>T (p.Gly132Val) c.329G>T (p.Gly110Val) | COSMIC |
19 | g.18599567C= | CA2326433773 | CRLF1 | c.395G= (p.Gly132=) c.329G= (p.Gly110=) | |
19 | g.18599567C>G | CA404851797 | CRLF1 | c.395G>C (p.Gly132Ala) c.329G>C (p.Gly110Ala) | |
19 | g.18599567C>T | CA306262194 | CRLF1 | c.395G>A (p.Gly132Asp) c.329G>A (p.Gly110Asp) | ClinVar dbSNP gnomAD v4 |
19 | g.18599568C>A | CA404851798 | CRLF1 | c.394G>T (p.Gly132Cys) c.328G>T (p.Gly110Cys) | |
19 | g.18599568C>G | CA404851799 | CRLF1 | c.394G>C (p.Gly132Arg) c.328G>C (p.Gly110Arg) | |
19 | g.18599568C>T | CA404851800 | CRLF1 | c.394G>A (p.Gly132Ser) c.328G>A (p.Gly110Ser) | gnomAD v4 |
19 | g.18599569A>C | CA506044549 | CRLF1 | c.393T>G (p.Val131=) c.327T>G (p.Val109=) | |
19 | g.18599569A>G | CA506044550 | CRLF1 | c.393T>C (p.Val131=) c.327T>C (p.Val109=) | |
19 | g.18599569A>T | CA506044551 | CRLF1 | c.393T>A (p.Val131=) c.327T>A (p.Val109=) | |
19 | g.18599570dup | CA2583603677 | CRLF1 | c.393dup (p.Gly132TrpfsTer?) c.327dup (p.Gly110TrpfsTer?) | gnomAD v4 |
19 | g.18599570A>C | CA404851803 | CRLF1 | c.392T>G (p.Val131Gly) c.326T>G (p.Val109Gly) | |
19 | g.18599570A>G | CA404851801 | CRLF1 | c.392T>C (p.Val131Ala) c.326T>C (p.Val109Ala) | |
19 | g.18599570A>T | CA404851802 | CRLF1 | c.392T>A (p.Val131Asp) c.326T>A (p.Val109Asp) | |
19 | g.18599571C>A | CA404851804 | CRLF1 | c.391G>T (p.Val131Phe) c.325G>T (p.Val109Phe) | |
19 | g.18599571C= | CA2326433774 | CRLF1 | c.391G= (p.Val131=) c.325G= (p.Val109=) | |
19 | g.18599571C>G | CA9314268 | CRLF1 | c.391G>C (p.Val131Leu) c.325G>C (p.Val109Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599571C>T | CA404851805 | CRLF1 | c.391G>A (p.Val131Ile) c.325G>A (p.Val109Ile) | dbSNP |
19 | g.18599572A= | CA2326433775 | CRLF1 | c.390T= (p.Tyr130=) c.324T= (p.Tyr108=) | |
19 | g.18599572A>C | CA404851806 | CRLF1 | c.390T>G (p.Tyr130Ter) c.324T>G (p.Tyr108Ter) | |
19 | g.18599572A>G | CA306262201 | CRLF1 | c.390T>C (p.Tyr130=) c.324T>C (p.Tyr108=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18599572A>T | CA404851807 | CRLF1 | c.390T>A (p.Tyr130Ter) c.324T>A (p.Tyr108Ter) | |
19 | g.18599573T>A | CA404851808 | CRLF1 | c.389A>T (p.Tyr130Phe) c.323A>T (p.Tyr108Phe) | |
19 | g.18599573T>C | CA404851810 | CRLF1 | c.389A>G (p.Tyr130Cys) c.323A>G (p.Tyr108Cys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18599573T>G | CA404851809 | CRLF1 | c.389A>C (p.Tyr130Ser) c.323A>C (p.Tyr108Ser) | |
19 | g.18599573T= | CA2326433776 | CRLF1 | c.389A= (p.Tyr130=) c.323A= (p.Tyr108=) | |
19 | g.18599574A>C | CA404851811 | CRLF1 | c.388T>G (p.Tyr130Asp) c.322T>G (p.Tyr108Asp) | |
19 | g.18599574A>G | CA404851812 | CRLF1 | c.388T>C (p.Tyr130His) c.322T>C (p.Tyr108His) | |
19 | g.18599574A>T | CA404851813 | CRLF1 | c.388T>A (p.Tyr130Asn) c.322T>A (p.Tyr108Asn) | |
19 | g.18599575G>A | CA506044552 | CRLF1 | c.387C>T (p.Leu129=) c.321C>T (p.Leu107=) |