Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18599528A= | CA2326433741 | CRLF1 | c.397+37T= (n.397+37T=) c.331+37T= (n.331+37T=) | |
19 | g.18599528A>C | CA632626399 | CRLF1 | c.397+37T>G (n.397+37T>G) c.331+37T>G (n.331+37T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599528A>G | CA2583603664 | CRLF1 | c.397+37T>C (n.397+37T>C) c.331+37T>C (n.331+37T>C) | gnomAD v4 |
19 | g.18599529A= | CA2326433742 | CRLF1 | c.397+36T= (n.397+36T=) c.331+36T= (n.331+36T=) | |
19 | g.18599529A>C | CA2576724792 | CRLF1 | c.397+36T>G (n.397+36T>G) c.331+36T>G (n.331+36T>G) | gnomAD v4 |
19 | g.18599529A>G | CA2326433743 | CRLF1 | c.397+36T>C (n.397+36T>C) c.331+36T>C (n.331+36T>C) | dbSNP |
19 | g.18599530G>C | CA9314262 | CRLF1 | c.397+35C>G (n.397+35C>G) c.331+35C>G (n.331+35C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18599530G= | CA2326433744 | CRLF1 | c.397+35C= (n.397+35C=) c.331+35C= (n.331+35C=) | |
19 | g.18599530G>T | CA9314261 | CRLF1 | c.397+35C>A (n.397+35C>A) c.331+35C>A (n.331+35C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18599531A= | CA2326433745 | CRLF1 | c.397+34T= (n.397+34T=) c.331+34T= (n.331+34T=) | |
19 | g.18599531A>G | CA2326433746 | CRLF1 | c.397+34T>C (n.397+34T>C) c.331+34T>C (n.331+34T>C) | dbSNP |
19 | g.18599532G>C | CA2813827918 | CRLF1 | c.397+33C>G (n.397+33C>G) c.331+33C>G (n.331+33C>G) | |
19 | g.18599533C= | CA2326433747 | CRLF1 | c.397+32G= (n.397+32G=) c.331+32G= (n.331+32G=) | |
19 | g.18599533C>G | CA632626400 | CRLF1 | c.397+32G>C (n.397+32G>C) c.331+32G>C (n.331+32G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599533C>T | CA306262171 | CRLF1 | c.397+32G>A (n.397+32G>A) c.331+32G>A (n.331+32G>A) | dbSNP |
19 | g.18599534T>C | CA2326433748 | CRLF1 | c.397+31A>G (n.397+31A>G) c.331+31A>G (n.331+31A>G) | dbSNP |
19 | g.18599534T= | CA2326433749 | CRLF1 | c.397+31A= (n.397+31A=) c.331+31A= (n.331+31A=) | |
19 | g.18599534dup | CA632626401 | CRLF1 | c.397+31dup (n.397+31dup) c.331+31dup (n.331+31dup) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599534_18599536delinsTAC | CA2326433750 | CRLF1 | c.397+29_397+31delinsGTA (n.397+29_397+31delinsGTA) c.331+29_331+31delinsGTA (n.331+29_331+31delinsGTA) | |
19 | g.18599535A= | CA2326433751 | CRLF1 | c.397+30T= (n.397+30T=) c.331+30T= (n.331+30T=) | |
19 | g.18599535A>C | CA2326433752 | CRLF1 | c.397+30T>G (n.397+30T>G) c.331+30T>G (n.331+30T>G) | dbSNP |
19 | g.18599535A>G | CA2583603665 | CRLF1 | c.397+30T>C (n.397+30T>C) c.331+30T>C (n.331+30T>C) | gnomAD v4 |
19 | g.18599535dup | CA2583603666 | CRLF1 | c.397+30dup (n.397+30dup) c.331+30dup (n.331+30dup) | gnomAD v4 |
19 | g.18599535_18599536del | CA9314263 | CRLF1 | c.397+29_397+30del (n.397+29_397+30del) c.331+29_331+30del (n.331+29_331+30del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18599536C= | CA2326433753 | CRLF1 | c.397+29G= (n.397+29G=) c.331+29G= (n.331+29G=) | |
19 | g.18599536C>T | CA783935881 | CRLF1 | c.397+29G>A (n.397+29G>A) c.331+29G>A (n.331+29G>A) | dbSNP gnomAD v4 |
19 | g.18599537C>A | CA2583603668 | CRLF1 | c.397+28G>T (n.397+28G>T) c.331+28G>T (n.331+28G>T) | gnomAD v4 |
19 | g.18599537_18599542del | CA2583603667 | CRLF1 | c.397+23_397+28del (n.397+23_397+28del) c.331+23_331+28del (n.331+23_331+28del) | gnomAD v4 |
19 | g.18599538C= | CA2326433754 | CRLF1 | c.397+27G= (n.397+27G=) c.331+27G= (n.331+27G=) | |
19 | g.18599538C>G | CA632626402 | CRLF1 | c.397+27G>C (n.397+27G>C) c.331+27G>C (n.331+27G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599539C>G | CA2583603669 | CRLF1 | c.397+26G>C (n.397+26G>C) c.331+26G>C (n.331+26G>C) | gnomAD v4 |
19 | g.18599540_18599541delinsTG | CA2326433755 | CRLF1 | c.397+24_397+25delinsCA (n.397+24_397+25delinsCA) c.331+24_331+25delinsCA (n.331+24_331+25delinsCA) | |
19 | g.18599544del | CA783935887 | CRLF1 | c.397+24del (n.397+24del) c.331+24del (n.331+24del) | dbSNP |
19 | g.18599542G>A | CA306262188 | CRLF1 | c.397+23C>T (n.397+23C>T) c.331+23C>T (n.331+23C>T) | dbSNP |
19 | g.18599542G= | CA2326433756 | CRLF1 | c.397+23C= (n.397+23C=) c.331+23C= (n.331+23C=) | |
19 | g.18599543G>A | CA2326433758 | CRLF1 | c.397+22C>T (n.397+22C>T) c.331+22C>T (n.331+22C>T) | dbSNP gnomAD v4 |
19 | g.18599543G>C | CA2583603670 | CRLF1 | c.397+22C>G (n.397+22C>G) c.331+22C>G (n.331+22C>G) | gnomAD v4 |
19 | g.18599543G= | CA2326433757 | CRLF1 | c.397+22C= (n.397+22C=) c.331+22C= (n.331+22C=) | |
19 | g.18599543G>T | CA2568514489 | CRLF1 | c.397+22C>A (n.397+22C>A) c.331+22C>A (n.331+22C>A) | gnomAD v4 |
19 | g.18599544G>A | CA783935889 | CRLF1 | c.397+21C>T (n.397+21C>T) c.331+21C>T (n.331+21C>T) | dbSNP |
19 | g.18599544G= | CA2326433759 | CRLF1 | c.397+21C= (n.397+21C=) c.331+21C= (n.331+21C=) | |
19 | g.18599544G>T | CA2576724793 | CRLF1 | c.397+21C>A (n.397+21C>A) c.331+21C>A (n.331+21C>A) | gnomAD v4 |
19 | g.18599545T>A | CA9314264 | CRLF1 | c.397+20A>T (n.397+20A>T) c.331+20A>T (n.331+20A>T) | dbSNP ExAC gnomAD v2 |
19 | g.18599545T= | CA2326433760 | CRLF1 | c.397+20A= (n.397+20A=) c.331+20A= (n.331+20A=) | |
19 | g.18599546dup | CA2583603671 | CRLF1 | c.397+19dup (n.397+19dup) c.331+19dup (n.331+19dup) | gnomAD v4 |
19 | g.18599547T>C | CA9314265 | CRLF1 | c.397+18A>G (n.397+18A>G) c.331+18A>G (n.331+18A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599547T= | CA2326433761 | CRLF1 | c.397+18A= (n.397+18A=) c.331+18A= (n.331+18A=) | |
19 | g.18599549C>T | CA2813827919 | CRLF1 | c.397+16G>A (n.397+16G>A) c.331+16G>A (n.331+16G>A) | |
19 | g.18599550T>C | CA9314266 | CRLF1 | c.397+15A>G (n.397+15A>G) c.331+15A>G (n.331+15A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18599550T= | CA2326433762 | CRLF1 | c.397+15A= (n.397+15A=) c.331+15A= (n.331+15A=) | |
19 | g.18599551G>A | CA2326433764 | CRLF1 | c.397+14C>T (n.397+14C>T) c.331+14C>T (n.331+14C>T) | dbSNP |
19 | g.18599551G= | CA2326433763 | CRLF1 | c.397+14C= (n.397+14C=) c.331+14C= (n.331+14C=) | |
19 | g.18599552G>A | CA632626403 | CRLF1 | c.397+13C>T (n.397+13C>T) c.331+13C>T (n.331+13C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599552G= | CA2326433765 | CRLF1 | c.397+13C= (n.397+13C=) c.331+13C= (n.331+13C=) | |
19 | g.18599553G>C | CA2583603672 | CRLF1 | c.397+12C>G (n.397+12C>G) c.331+12C>G (n.331+12C>G) | gnomAD v4 |
19 | g.18599556C= | CA2326433766 | CRLF1 | c.397+9G= (n.397+9G=) c.331+9G= (n.331+9G=) | |
19 | g.18599556C>T | CA915952927 | CRLF1 | c.397+9G>A (n.397+9G>A) c.331+9G>A (n.331+9G>A) | ClinVar dbSNP |
19 | g.18599557C>G | CA2583603673 | CRLF1 | c.397+8G>C (n.397+8G>C) c.331+8G>C (n.331+8G>C) | gnomAD v4 |
19 | g.18599558A= | CA2326433767 | CRLF1 | c.397+7T= (n.397+7T=) c.331+7T= (n.331+7T=) | |
19 | g.18599558A>C | CA632626404 | CRLF1 | c.397+7T>G (n.397+7T>G) c.331+7T>G (n.331+7T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599558A>G | CA2583603674 | CRLF1 | c.397+7T>C (n.397+7T>C) c.331+7T>C (n.331+7T>C) | gnomAD v4 |
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=) | |
19 | g.18599575G>C | CA506044553 | CRLF1 | c.387C>G (p.Leu129=) c.321C>G (p.Leu107=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18599575G= | CA2326433777 | CRLF1 | c.387C= (p.Leu129=) c.321C= (p.Leu107=) | |
19 | g.18599575G>T | CA506044554 | CRLF1 | c.387C>A (p.Leu129=) c.321C>A (p.Leu107=) | |
19 | g.18599576A>C | CA404851814 | CRLF1 | c.386T>G (p.Leu129Arg) c.320T>G (p.Leu107Arg) | |
19 | g.18599576A>G | CA404851815 | CRLF1 | c.386T>C (p.Leu129Pro) c.320T>C (p.Leu107Pro) | |
19 | g.18599576A>T | CA404851816 | CRLF1 | c.386T>A (p.Leu129His) c.320T>A (p.Leu107His) | |
19 | g.18599578_18599588dup | CA2583603678 | CRLF1 | c.376_386dup (p.Tyr130AlafsTer23) c.310_320dup (p.Tyr108AlafsTer23) | gnomAD v4 |
19 | g.18599577G>A | CA404851817 | CRLF1 | c.385C>T (p.Leu129Phe) c.319C>T (p.Leu107Phe) | |
19 | g.18599577G>C | CA404851818 | CRLF1 | c.385C>G (p.Leu129Val) c.319C>G (p.Leu107Val) | |
19 | g.18599577G>T | CA404851819 | CRLF1 | c.385C>A (p.Leu129Ile) c.319C>A (p.Leu107Ile) | |
19 | g.18599578del | CA2741617212 | CRLF1 | c.385del (p.Leu129SerfsTer20) c.319del (p.Leu107SerfsTer20) | |
19 | g.18599578G>A | CA506044555 | CRLF1 | c.384C>T (p.Cys128=) c.318C>T (p.Cys106=) | COSMIC |
19 | g.18599578G>C | CA404851820 | CRLF1 | c.384C>G (p.Cys128Trp) c.318C>G (p.Cys106Trp) | |
19 | g.18599578G>T | CA404851821 | CRLF1 | c.384C>A (p.Cys128Ter) c.318C>A (p.Cys106Ter) | |
19 | g.18599579C>A | CA404851823 | CRLF1 | c.383G>T (p.Cys128Phe) c.317G>T (p.Cys106Phe) | |
19 | g.18599579C= | CA2326433778 | CRLF1 | c.383G= (p.Cys128=) c.317G= (p.Cys106=) | |
19 | g.18599579C>G | CA404851824 | CRLF1 | c.383G>C (p.Cys128Ser) c.317G>C (p.Cys106Ser) | |
19 | g.18599579C>T | CA404851822 | CRLF1 | c.383G>A (p.Cys128Tyr) c.317G>A (p.Cys106Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599580A= | CA2326433779 | CRLF1 | c.382T= (p.Cys128=) c.316T= (p.Cys106=) | |
19 | g.18599580A>C | CA404851825 | CRLF1 | c.382T>G (p.Cys128Gly) c.316T>G (p.Cys106Gly) | gnomAD v4 |
19 | g.18599580A>G | CA9314269 | CRLF1 | c.382T>C (p.Cys128Arg) c.316T>C (p.Cys106Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599580A>T | CA404851826 | CRLF1 | c.382T>A (p.Cys128Ser) c.316T>A (p.Cys106Ser) | |
19 | g.18599581G>A | CA506044556 | CRLF1 | c.381C>T (p.Ser127=) c.315C>T (p.Ser105=) | |
19 | g.18599581G>C | CA506044557 | CRLF1 | c.381C>G (p.Ser127=) c.315C>G (p.Ser105=) | |
19 | g.18599581G>T | CA506044558 | CRLF1 | c.381C>A (p.Ser127=) c.315C>A (p.Ser105=) | |
19 | g.18599582G>A | CA404851827 | CRLF1 | c.380C>T (p.Ser127Phe) c.314C>T (p.Ser105Phe) | gnomAD v4 COSMIC |
19 | g.18599582G>C | CA404851829 | CRLF1 | c.380C>G (p.Ser127Cys) c.314C>G (p.Ser105Cys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599582G= | CA2326433780 | CRLF1 | c.380C= (p.Ser127=) c.314C= (p.Ser105=) | |
19 | g.18599582G>T | CA404851828 | CRLF1 | c.380C>A (p.Ser127Tyr) c.314C>A (p.Ser105Tyr) | dbSNP |
19 | g.18599583A>C | CA404851830 | CRLF1 | c.379T>G (p.Ser127Ala) c.313T>G (p.Ser105Ala) | |
19 | g.18599583A>G | CA404851831 | CRLF1 | c.379T>C (p.Ser127Pro) c.313T>C (p.Ser105Pro) | |
19 | g.18599583A>T | CA404851832 | CRLF1 | c.379T>A (p.Ser127Thr) c.313T>A (p.Ser105Thr) | |
19 | g.18599584G>A | CA506044559 | CRLF1 | c.378C>T (p.Gly126=) c.312C>T (p.Gly104=) | |
19 | g.18599584G>C | CA506044560 | CRLF1 | c.378C>G (p.Gly126=) c.312C>G (p.Gly104=) | |
19 | g.18599584G>T | CA506044561 | CRLF1 | c.378C>A (p.Gly126=) c.312C>A (p.Gly104=) | |
19 | g.18599585C>A | CA404851833 | CRLF1 | c.377G>T (p.Gly126Val) c.311G>T (p.Gly104Val) | |
19 | g.18599585C= | CA2326433781 | CRLF1 | c.377G= (p.Gly126=) c.311G= (p.Gly104=) | |
19 | g.18599585C>G | CA404851834 | CRLF1 | c.377G>C (p.Gly126Ala) c.311G>C (p.Gly104Ala) | dbSNP |
19 | g.18599585C>T | CA9314270 | CRLF1 | c.377G>A (p.Gly126Asp) c.311G>A (p.Gly104Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18599586C>A | CA404851835 | CRLF1 | c.376G>T (p.Gly126Cys) c.310G>T (p.Gly104Cys) | |
19 | g.18599586C>G | CA404851836 | CRLF1 | c.376G>C (p.Gly126Arg) c.310G>C (p.Gly104Arg) | |
19 | g.18599586C>T | CA404851837 | CRLF1 | c.376G>A (p.Gly126Ser) c.310G>A (p.Gly104Ser) | |
19 | g.18599587A= | CA2326433782 | CRLF1 | c.375T= (p.Ala125=) c.309T= (p.Ala103=) | |
19 | g.18599587A>C | CA506044562 | CRLF1 | c.375T>G (p.Ala125=) c.309T>G (p.Ala103=) | dbSNP |
19 | g.18599587A>G | CA506044564 | CRLF1 | c.375T>C (p.Ala125=) c.309T>C (p.Ala103=) | |
19 | g.18599587A>T | CA506044563 | CRLF1 | c.375T>A (p.Ala125=) c.309T>A (p.Ala103=) | |
19 | g.18599588G>A | CA404851838 | CRLF1 | c.374C>T (p.Ala125Val) c.308C>T (p.Ala103Val) | |
19 | g.18599588G>C | CA404851839 | CRLF1 | c.374C>G (p.Ala125Gly) c.308C>G (p.Ala103Gly) | |
19 | g.18599588G>T | CA404851840 | CRLF1 | c.374C>A (p.Ala125Asp) c.308C>A (p.Ala103Asp) | |
19 | g.18599589C>A | CA404851843 | CRLF1 | c.373G>T (p.Ala125Ser) c.307G>T (p.Ala103Ser) | |
19 | g.18599589C>G | CA404851842 | CRLF1 | c.373G>C (p.Ala125Pro) c.307G>C (p.Ala103Pro) | |
19 | g.18599589C>T | CA404851841 | CRLF1 | c.373G>A (p.Ala125Thr) c.307G>A (p.Ala103Thr) | COSMIC |
19 | g.18599590C>A | CA506044565 | CRLF1 | c.372G>T (p.Leu124=) c.306G>T (p.Leu102=) | |
19 | g.18599590C>G | CA506044566 | CRLF1 | c.372G>C (p.Leu124=) c.306G>C (p.Leu102=) | |
19 | g.18599590C>T | CA506044567 | CRLF1 | c.372G>A (p.Leu124=) c.306G>A (p.Leu102=) | gnomAD v4 |
19 | g.18599591A>C | CA404851844 | CRLF1 | c.371T>G (p.Leu124Arg) c.305T>G (p.Leu102Arg) | |
19 | g.18599591A>G | CA404851845 | CRLF1 | c.371T>C (p.Leu124Pro) c.305T>C (p.Leu102Pro) | |
19 | g.18599591A>T | CA404851846 | CRLF1 | c.371T>A (p.Leu124Gln) c.305T>A (p.Leu102Gln) | |
19 | g.18599592G>A | CA506044568 | CRLF1 | c.370C>T (p.Leu124=) c.304C>T (p.Leu102=) | |
19 | g.18599592G>C | CA404851847 | CRLF1 | c.370C>G (p.Leu124Val) c.304C>G (p.Leu102Val) | |
19 | g.18599592G>T | CA404851848 | CRLF1 | c.370C>A (p.Leu124Met) c.304C>A (p.Leu102Met) | |
19 | g.18599593G>A | CA9314271 | CRLF1 | c.369C>T (p.Ile123=) c.303C>T (p.Ile101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599593G>C | CA404851849 | CRLF1 | c.369C>G (p.Ile123Met) c.303C>G (p.Ile101Met) | |
19 | g.18599593G= | CA2326433783 | CRLF1 | c.369C= (p.Ile123=) c.303C= (p.Ile101=) | |
19 | g.18599593G>T | CA306262211 | CRLF1 | c.369C>A (p.Ile123=) c.303C>A (p.Ile101=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599594A>C | CA404851850 | CRLF1 | c.368T>G (p.Ile123Ser) c.302T>G (p.Ile101Ser) | |
19 | g.18599594A>G | CA404851851 | CRLF1 | c.368T>C (p.Ile123Thr) c.302T>C (p.Ile101Thr) | |
19 | g.18599594A>T | CA404851852 | CRLF1 | c.368T>A (p.Ile123Asn) c.302T>A (p.Ile101Asn) | |
19 | g.18599595T>A | CA404851853 | CRLF1 | c.367A>T (p.Ile123Phe) c.301A>T (p.Ile101Phe) | |
19 | g.18599595T>C | CA404851854 | CRLF1 | c.367A>G (p.Ile123Val) c.301A>G (p.Ile101Val) | |
19 | g.18599595T>G | CA404851855 | CRLF1 | c.367A>C (p.Ile123Leu) c.301A>C (p.Ile101Leu) | |
19 | g.18599596G>A | CA506044570 | CRLF1 | c.366C>T (p.Ser122=) c.300C>T (p.Ser100=) | gnomAD v4 |
19 | g.18599596G>C | CA404851857 | CRLF1 | c.366C>G (p.Ser122Arg) c.300C>G (p.Ser100Arg) | |
19 | g.18599596G= | CA2326433784 | CRLF1 | c.366C= (p.Ser122=) c.300C= (p.Ser100=) | |
19 | g.18599596G>T | CA404851856 | CRLF1 | c.366C>A (p.Ser122Arg) c.300C>A (p.Ser100Arg) | dbSNP |
19 | g.18599597C>A | CA404851858 | CRLF1 | c.365G>T (p.Ser122Ile) c.299G>T (p.Ser100Ile) | |
19 | g.18599597C>G | CA404851859 | CRLF1 | c.365G>C (p.Ser122Thr) c.299G>C (p.Ser100Thr) | |
19 | g.18599597C>T | CA404851860 | CRLF1 | c.365G>A (p.Ser122Asn) c.299G>A (p.Ser100Asn) | |
19 | g.18599598T>A | CA404851861 | CRLF1 | c.364A>T (p.Ser122Cys) c.298A>T (p.Ser100Cys) | |
19 | g.18599598T>C | CA404851862 | CRLF1 | c.364A>G (p.Ser122Gly) c.298A>G (p.Ser100Gly) | |
19 | g.18599598T>G | CA404851863 | CRLF1 | c.364A>C (p.Ser122Arg) c.298A>C (p.Ser100Arg) | |
19 | g.18599599G>A | CA506044571 | CRLF1 | c.363C>T (p.Gly121=) c.297C>T (p.Gly99=) | |
19 | g.18599599G>C | CA506044573 | CRLF1 | c.363C>G (p.Gly121=) c.297C>G (p.Gly99=) | |
19 | g.18599599G>T | CA506044572 | CRLF1 | c.363C>A (p.Gly121=) c.297C>A (p.Gly99=) | |
19 | g.18599600C>A | CA404851866 | CRLF1 | c.362G>T (p.Gly121Val) c.296G>T (p.Gly99Val) | |
19 | g.18599600C>G | CA404851865 | CRLF1 | c.362G>C (p.Gly121Ala) c.296G>C (p.Gly99Ala) | |
19 | g.18599600C>T | CA404851864 | CRLF1 | c.362G>A (p.Gly121Asp) c.296G>A (p.Gly99Asp) | |
19 | g.18599601C>A | CA404851867 | CRLF1 | c.361G>T (p.Gly121Cys) c.295G>T (p.Gly99Cys) | |
19 | g.18599601C= | CA2326433785 | CRLF1 | c.361G= (p.Gly121=) c.295G= (p.Gly99=) | |
19 | g.18599601C>G | CA404851868 | CRLF1 | c.361G>C (p.Gly121Arg) c.295G>C (p.Gly99Arg) | |
19 | g.18599601C>T | CA9314272 | CRLF1 | c.361G>A (p.Gly121Ser) c.295G>A (p.Gly99Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599602G>A | CA9314273 | CRLF1 | c.360C>T (p.Asp120=) c.294C>T (p.Asp98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599602G>C | CA404851869 | CRLF1 | c.360C>G (p.Asp120Glu) c.294C>G (p.Asp98Glu) | |
19 | g.18599602G= | CA2326433786 | CRLF1 | c.360C= (p.Asp120=) c.294C= (p.Asp98=) | |
19 | g.18599602G>T | CA404851870 | CRLF1 | c.360C>A (p.Asp120Glu) c.294C>A (p.Asp98Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599603T>A | CA404851871 | CRLF1 | c.359A>T (p.Asp120Val) c.293A>T (p.Asp98Val) | |
19 | g.18599603T>C | CA404851873 | CRLF1 | c.359A>G (p.Asp120Gly) c.293A>G (p.Asp98Gly) | |
19 | g.18599603T>G | CA404851872 | CRLF1 | c.359A>C (p.Asp120Ala) c.293A>C (p.Asp98Ala) | |
19 | g.18599604C>A | CA404851874 | CRLF1 | c.358G>T (p.Asp120Tyr) c.292G>T (p.Asp98Tyr) | |
19 | g.18599604C= | CA2326433787 | CRLF1 | c.358G= (p.Asp120=) c.292G= (p.Asp98=) | |
19 | g.18599604C>G | CA404851875 | CRLF1 | c.358G>C (p.Asp120His) c.292G>C (p.Asp98His) | dbSNP |
19 | g.18599604C>T | CA404851876 | CRLF1 | c.358G>A (p.Asp120Asn) c.292G>A (p.Asp98Asn) | |
19 | g.18599605A>C | CA506044577 | CRLF1 | c.357T>G (p.Arg119=) c.291T>G (p.Arg97=) | |
19 | g.18599605A>G | CA506044578 | CRLF1 | c.357T>C (p.Arg119=) c.291T>C (p.Arg97=) | |
19 | g.18599605A>T | CA506044579 | CRLF1 | c.357T>A (p.Arg119=) c.291T>A (p.Arg97=) | |
19 | g.18599606C>A | CA404851877 | CRLF1 | c.356G>T (p.Arg119Leu) c.290G>T (p.Arg97Leu) | |
19 | g.18599606C= | CA2326433788 | CRLF1 | c.356G= (p.Arg119=) c.290G= (p.Arg97=) | |
19 | g.18599606C>G | CA404851878 | CRLF1 | c.356G>C (p.Arg119Pro) c.290G>C (p.Arg97Pro) | |
19 | g.18599606C>T | CA9314274 | CRLF1 | c.356G>A (p.Arg119His) c.290G>A (p.Arg97His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.18599607G>A | CA9314275 | CRLF1 | c.355C>T (p.Arg119Cys) c.289C>T (p.Arg97Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599607G>C | CA404851879 | CRLF1 | c.355C>G (p.Arg119Gly) c.289C>G (p.Arg97Gly) | |
19 | g.18599607G= | CA2326433789 | CRLF1 | c.355C= (p.Arg119=) c.289C= (p.Arg97=) | |
19 | g.18599607G>T | CA404851880 | CRLF1 | c.355C>A (p.Arg119Ser) c.289C>A (p.Arg97Ser) | |
19 | g.18599609del | CA913015700 | CRLF1 | c.355del (p.Arg119ValfsTer30) c.289del (p.Arg97ValfsTer30) | |
19 | g.18599608G>A | CA506044582 | CRLF1 | c.354C>T (p.Ala118=) c.288C>T (p.Ala96=) | dbSNP |
19 | g.18599608G>C | CA506044581 | CRLF1 | c.354C>G (p.Ala118=) c.288C>G (p.Ala96=) | |
19 | g.18599608G>T | CA506044580 | CRLF1 | c.354C>A (p.Ala118=) c.288C>A (p.Ala96=) | |
19 | g.18599609G>A | CA404851881 | CRLF1 | c.353C>T (p.Ala118Val) c.287C>T (p.Ala96Val) | ClinVar gnomAD v4 |
19 | g.18599609G>C | CA404851882 | CRLF1 | c.353C>G (p.Ala118Gly) c.287C>G (p.Ala96Gly) | |
19 | g.18599609G>T | CA404851883 | CRLF1 | c.353C>A (p.Ala118Asp) c.287C>A (p.Ala96Asp) | gnomAD v4 |
19 | g.18599610C>A | CA404851884 | CRLF1 | c.352G>T (p.Ala118Ser) c.286G>T (p.Ala96Ser) | |
19 | g.18599610C>G | CA404851886 | CRLF1 | c.352G>C (p.Ala118Pro) c.286G>C (p.Ala96Pro) | |
19 | g.18599610C>T | CA404851885 | CRLF1 | c.352G>A (p.Ala118Thr) c.286G>A (p.Ala96Thr) | gnomAD v4 COSMIC |
19 | g.18599611G>A | CA506044583 | CRLF1 | c.351C>T (p.His117=) c.285C>T (p.His95=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599611G>C | CA404851887 | CRLF1 | c.351C>G (p.His117Gln) c.285C>G (p.His95Gln) | |
19 | g.18599611G= | CA2326433790 | CRLF1 | c.351C= (p.His117=) c.285C= (p.His95=) | |
19 | g.18599611G>T | CA404851888 | CRLF1 | c.351C>A (p.His117Gln) c.285C>A (p.His95Gln) | |
19 | g.18599612T>A | CA404851889 | CRLF1 | c.350A>T (p.His117Leu) c.284A>T (p.His95Leu) | |
19 | g.18599612T>C | CA404851890 | CRLF1 | c.350A>G (p.His117Arg) c.284A>G (p.His95Arg) | |
19 | g.18599612T>G | CA404851891 | CRLF1 | c.350A>C (p.His117Pro) c.284A>C (p.His95Pro) | |
19 | g.18599613G>A | CA404851892 | CRLF1 | c.349C>T (p.His117Tyr) c.283C>T (p.His95Tyr) | |
19 | g.18599613G>C | CA404851893 | CRLF1 | c.349C>G (p.His117Asp) c.283C>G (p.His95Asp) | |
19 | g.18599613G>T | CA404851894 | CRLF1 | c.349C>A (p.His117Asn) c.283C>A (p.His95Asn) | |
19 | g.18599614G>A | CA506044584 | CRLF1 | c.348C>T (p.Cys116=) c.282C>T (p.Cys94=) | dbSNP gnomAD v4 |
19 | g.18599614G>C | CA404851895 | CRLF1 | c.348C>G (p.Cys116Trp) c.282C>G (p.Cys94Trp) | |
19 | g.18599614G= | CA2326433791 | CRLF1 | c.348C= (p.Cys116=) c.282C= (p.Cys94=) | |
19 | g.18599614G>T | CA404851896 | CRLF1 | c.348C>A (p.Cys116Ter) c.282C>A (p.Cys94Ter) | |
19 | g.18599615C>A | CA404851897 | CRLF1 | c.347G>T (p.Cys116Phe) c.281G>T (p.Cys94Phe) | gnomAD v4 |
19 | g.18599615C= | CA2326433792 | CRLF1 | c.347G= (p.Cys116=) c.281G= (p.Cys94=) | |
19 | g.18599615C>G | CA404851898 | CRLF1 | c.347G>C (p.Cys116Ser) c.281G>C (p.Cys94Ser) | |
19 | g.18599615C>T | CA404851899 | CRLF1 | c.347G>A (p.Cys116Tyr) c.281G>A (p.Cys94Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599616A= | CA2326433793 | CRLF1 | c.346T= (p.Cys116=) c.280T= (p.Cys94=) | |
19 | g.18599616A>C | CA404851902 | CRLF1 | c.346T>G (p.Cys116Gly) c.280T>G (p.Cys94Gly) | |
19 | g.18599616A>G | CA404851901 | CRLF1 | c.346T>C (p.Cys116Arg) c.280T>C (p.Cys94Arg) | dbSNP |
19 | g.18599616A>T | CA404851900 | CRLF1 | c.346T>A (p.Cys116Ser) c.280T>A (p.Cys94Ser) | |
19 | g.18599617C>A | CA506044585 | CRLF1 | c.345G>T (p.Val115=) c.279G>T (p.Val93=) | gnomAD v4 |
19 | g.18599617C>G | CA506044586 | CRLF1 | c.345G>C (p.Val115=) c.279G>C (p.Val93=) | |
19 | g.18599617C>T | CA506044587 | CRLF1 | c.345G>A (p.Val115=) c.279G>A (p.Val93=) | |
19 | g.18599618A= | CA2326433794 | CRLF1 | c.344T= (p.Val115=) c.278T= (p.Val93=) | |
19 | g.18599618A>C | CA404851903 | CRLF1 | c.344T>G (p.Val115Gly) c.278T>G (p.Val93Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599618A>G | CA404851904 | CRLF1 | c.344T>C (p.Val115Ala) c.278T>C (p.Val93Ala) | dbSNP |
19 | g.18599618A>T | CA404851905 | CRLF1 | c.344T>A (p.Val115Glu) c.278T>A (p.Val93Glu) | dbSNP gnomAD v4 |
19 | g.18599619C>A | CA404851906 | CRLF1 | c.343G>T (p.Val115Leu) c.277G>T (p.Val93Leu) | gnomAD v4 |
19 | g.18599619C= | CA2326433795 | CRLF1 | c.343G= (p.Val115=) c.277G= (p.Val93=) | |
19 | g.18599619C>G | CA404851907 | CRLF1 | c.343G>C (p.Val115Leu) c.277G>C (p.Val93Leu) | |
19 | g.18599619C>T | CA9314276 | CRLF1 | c.343G>A (p.Val115Met) c.277G>A (p.Val93Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599620G>A | CA9314277 | CRLF1 | c.342C>T (p.Leu114=) c.276C>T (p.Leu92=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599620G>C | CA306262248 | CRLF1 | c.342C>G (p.Leu114=) c.276C>G (p.Leu92=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599620G= | CA2326433796 | CRLF1 | c.342C= (p.Leu114=) c.276C= (p.Leu92=) | |
19 | g.18599620G>T | CA506044588 | CRLF1 | c.342C>A (p.Leu114=) c.276C>A (p.Leu92=) | |
19 | g.18599621A= | CA2326433797 | CRLF1 | c.341T= (p.Leu114=) c.275T= (p.Leu92=) | |
19 | g.18599621A>C | CA404851908 | CRLF1 | c.341T>G (p.Leu114Arg) c.275T>G (p.Leu92Arg) | |
19 | g.18599621A>G | CA9314278 | CRLF1 | c.341T>C (p.Leu114Pro) c.275T>C (p.Leu92Pro) | dbSNP ExAC gnomAD v2 |
19 | g.18599621A>T | CA404851909 | CRLF1 | c.341T>A (p.Leu114His) c.275T>A (p.Leu92His) | |
19 | g.18599621_18599624delinsGGGA | CA2695228420 | CRLF1 | c.338_341delinsTCCC (p.Asn113_Leu114delinsIlePro) c.272_275delinsTCCC (p.Asn91_Leu92delinsIlePro) | |
19 | g.18599622G>A | CA404851910 | CRLF1 | c.340C>T (p.Leu114Phe) c.274C>T (p.Leu92Phe) | gnomAD v4 |
19 | g.18599622G>C | CA404851911 | CRLF1 | c.340C>G (p.Leu114Val) c.274C>G (p.Leu92Val) | |
19 | g.18599622G>T | CA404851912 | CRLF1 | c.340C>A (p.Leu114Ile) c.274C>A (p.Leu92Ile) | |
19 | g.18599623G>A | CA506044589 | CRLF1 | c.339C>T (p.Asn113=) c.273C>T (p.Asn91=) | |
19 | g.18599623G>C | CA404851913 | CRLF1 | c.339C>G (p.Asn113Lys) c.273C>G (p.Asn91Lys) | |
19 | g.18599623G= | CA2326433798 | CRLF1 | c.339C= (p.Asn113=) c.273C= (p.Asn91=) | |
19 | g.18599623G>T | CA9314279 | CRLF1 | c.339C>A (p.Asn113Lys) c.273C>A (p.Asn91Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18599624T>A | CA404851914 | CRLF1 | c.338A>T (p.Asn113Ile) c.272A>T (p.Asn91Ile) | |
19 | g.18599624T>C | CA404851916 | CRLF1 | c.338A>G (p.Asn113Ser) c.272A>G (p.Asn91Ser) | |
19 | g.18599624T>G | CA404851915 | CRLF1 | c.338A>C (p.Asn113Thr) c.272A>C (p.Asn91Thr) | |
19 | g.18599625T>A | CA404851917 | CRLF1 | c.337A>T (p.Asn113Tyr) c.271A>T (p.Asn91Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599625T>C | CA404851918 | CRLF1 | c.337A>G (p.Asn113Asp) c.271A>G (p.Asn91Asp) | |
19 | g.18599625T>G | CA404851919 | CRLF1 | c.337A>C (p.Asn113His) c.271A>C (p.Asn91His) | |
19 | g.18599625T= | CA2326433799 | CRLF1 | c.337A= (p.Asn113=) c.271A= (p.Asn91=) | |
19 | g.18599626G>A | CA506044590 | CRLF1 | c.336C>T (p.Asp112=) c.270C>T (p.Asp90=) | |
19 | g.18599626G>C | CA404851920 | CRLF1 | c.336C>G (p.Asp112Glu) c.270C>G (p.Asp90Glu) | |
19 | g.18599626G>T | CA404851921 | CRLF1 | c.336C>A (p.Asp112Glu) c.270C>A (p.Asp90Glu) | COSMIC |
19 | g.18599627T>A | CA404851922 | CRLF1 | c.335A>T (p.Asp112Val) c.269A>T (p.Asp90Val) | COSMIC |
19 | g.18599627T>C | CA404851923 | CRLF1 | c.335A>G (p.Asp112Gly) c.269A>G (p.Asp90Gly) | |
19 | g.18599627T>G | CA404851924 | CRLF1 | c.335A>C (p.Asp112Ala) c.269A>C (p.Asp90Ala) | |
19 | g.18599628C>A | CA404851925 | CRLF1 | c.334G>T (p.Asp112Tyr) c.268G>T (p.Asp90Tyr) | gnomAD v4 |
19 | g.18599628C>G | CA404851926 | CRLF1 | c.334G>C (p.Asp112His) c.268G>C (p.Asp90His) | |
19 | g.18599628C>T | CA404851927 | CRLF1 | c.334G>A (p.Asp112Asn) c.268G>A (p.Asp90Asn) | gnomAD v4 COSMIC |
19 | g.18599632dup | CA2583603679 | CRLF1 | c.334dup (p.Asp112GlyfsTer9) c.268dup (p.Asp90GlyfsTer9) | gnomAD v4 |