| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.38485807C= | CA1540254059 | LIFR | c.2497+12G= (n.2497+12G=) n.342G= c.2551+12G= (n.2551+12G=) | |
| 5 | g.38485807C>T | CA1540254060 | LIFR | c.2497+12G>A (n.2497+12G>A) n.342G>A c.2551+12G>A (n.2551+12G>A) | dbSNP |
| 5 | g.38485809T>C | CA645547934 | LIFR | c.2497+10A>G (n.2497+10A>G) n.340A>G c.2551+10A>G (n.2551+10A>G) | COSMIC COSMIC |
| 5 | g.38485813A= | CA1540254063 | LIFR | c.2497+6T= (n.2497+6T=) n.336T= c.2551+6T= (n.2551+6T=) | |
| 5 | g.38485813A>T | CA3242652 | LIFR | c.2497+6T>A (n.2497+6T>A) n.336T>A c.2551+6T>A (n.2551+6T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485817A>C | CA359535873 | LIFR | c.2497+2T>G (n.2497+2T>G) n.332T>G c.2551+2T>G (n.2551+2T>G) | |
| 5 | g.38485817A>G | CA359535874 | LIFR | c.2497+2T>C (n.2497+2T>C) n.332T>C c.2551+2T>C (n.2551+2T>C) | |
| 5 | g.38485817A>T | CA359535875 | LIFR | c.2497+2T>A (n.2497+2T>A) n.332T>A c.2551+2T>A (n.2551+2T>A) | |
| 5 | g.38485818C>A | CA3242653 | LIFR | c.2497+1G>T (n.2497+1G>T) n.331G>T c.2551+1G>T (n.2551+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485818C= | CA1540254064 | LIFR | c.2497+1G= (n.2497+1G=) n.331G= c.2551+1G= (n.2551+1G=) | |
| 5 | g.38485818C>G | CA359535877 | LIFR | c.2497+1G>C (n.2497+1G>C) n.331G>C c.2551+1G>C (n.2551+1G>C) | |
| 5 | g.38485818C>T | CA359535876 | LIFR | c.2497+1G>A (n.2497+1G>A) n.331G>A c.2551+1G>A (n.2551+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38485819A= | CA1540254068 | LIFR | c.2497T= (p.Ser833=) n.330T= c.2497T= (p.Leu833=) c.2551T= (p.Ser851=) | |
| 5 | g.38485819A>C | CA359535878 | LIFR | c.2497T>G (p.Ser833Ala) n.330T>G c.2497T>G (p.Leu833Val) c.2551T>G (p.Ser851Ala) | |
| 5 | g.38485819A>G | CA359535879 | LIFR | c.2497T>C (p.Ser833Pro) n.330T>C c.2497T>C (p.Leu833=) c.2551T>C (p.Ser851Pro) | |
| 5 | g.38485819A>T | CA359535880 | LIFR | c.2497T>A (p.Ser833Thr) n.330T>A c.2497T>A (p.Leu833Met) c.2551T>A (p.Ser851Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38485820A>C | CA359535881 | LIFR | c.2496T>G (p.Asn832Lys) n.329T>G c.2550T>G (p.Asn850Lys) | |
| 5 | g.38485820A>G | CA443943747 | LIFR | c.2496T>C (p.Asn832=) n.329T>C c.2550T>C (p.Asn850=) | |
| 5 | g.38485820A>T | CA359535882 | LIFR | c.2496T>A (p.Asn832Lys) n.329T>A c.2550T>A (p.Asn850Lys) | |
| 5 | g.38485821T>A | CA359535883 | LIFR | c.2495A>T (p.Asn832Ile) n.328A>T c.2549A>T (p.Asn850Ile) | |
| 5 | g.38485821T>C | CA359535884 | LIFR | c.2495A>G (p.Asn832Ser) n.328A>G c.2549A>G (p.Asn850Ser) | gnomAD v4 |
| 5 | g.38485821T>G | CA359535885 | LIFR | c.2495A>C (p.Asn832Thr) n.328A>C c.2549A>C (p.Asn850Thr) | |
| 5 | g.38485824dup | CA2673628180 | LIFR | c.2495dup (p.Asn832LysfsTer?) n.328dup c.2495dup (p.Asn832LysfsTer24) c.2549dup (p.Asn850LysfsTer?) | gnomAD v4 |
| 5 | g.38485821_38485822insC | CA2550295104 | LIFR | c.2494_2495insG (p.Asn832ArgfsTer?) n.327_328insG c.2494_2495insG (p.Asn832ArgfsTer24) c.2548_2549insG (p.Asn850ArgfsTer?) | |
| 5 | g.38485822T>A | CA359535886 | LIFR | c.2494A>T (p.Asn832Tyr) n.327A>T c.2548A>T (p.Asn850Tyr) | |
| 5 | g.38485822T>C | CA359535887 | LIFR | c.2494A>G (p.Asn832Asp) n.327A>G c.2548A>G (p.Asn850Asp) | |
| 5 | g.38485822T>G | CA359535888 | LIFR | c.2494A>C (p.Asn832His) n.327A>C c.2548A>C (p.Asn850His) | |
| 5 | g.38485823T>A | CA359535889 | LIFR | c.2493A>T (p.Glu831Asp) n.326A>T c.2547A>T (p.Glu849Asp) | |
| 5 | g.38485823T>C | CA443943753 | LIFR | c.2493A>G (p.Glu831=) n.326A>G c.2547A>G (p.Glu849=) | |
| 5 | g.38485823T>G | CA359535890 | LIFR | c.2493A>C (p.Glu831Asp) n.326A>C c.2547A>C (p.Glu849Asp) | |
| 5 | g.38485824T>A | CA359535892 | LIFR | c.2492A>T (p.Glu831Val) n.325A>T c.2546A>T (p.Glu849Val) | |
| 5 | g.38485824T>C | CA3242654 | LIFR | c.2492A>G (p.Glu831Gly) n.325A>G c.2546A>G (p.Glu849Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38485824T>G | CA359535891 | LIFR | c.2492A>C (p.Glu831Ala) n.325A>C c.2546A>C (p.Glu849Ala) | |
| 5 | g.38485824T= | CA1540254071 | LIFR | c.2492A= (p.Glu831=) n.325A= c.2546A= (p.Glu849=) | |
| 5 | g.38485825C>A | CA359535895 | LIFR | c.2491G>T (p.Glu831Ter) n.324G>T c.2545G>T (p.Glu849Ter) | |
| 5 | g.38485825C>G | CA359535893 | LIFR | c.2491G>C (p.Glu831Gln) n.324G>C c.2545G>C (p.Glu849Gln) | |
| 5 | g.38485825C>T | CA359535894 | LIFR | c.2491G>A (p.Glu831Lys) n.324G>A c.2545G>A (p.Glu849Lys) | COSMIC COSMIC |
| 5 | g.38485826C>A | CA359535896 | LIFR | c.2490G>T (p.Lys830Asn) n.323G>T c.2544G>T (p.Lys848Asn) | |
| 5 | g.38485826C>G | CA359535897 | LIFR | c.2490G>C (p.Lys830Asn) n.323G>C c.2544G>C (p.Lys848Asn) | |
| 5 | g.38485826C>T | CA443943756 | LIFR | c.2490G>A (p.Lys830=) n.323G>A c.2544G>A (p.Lys848=) | |
| 5 | g.38485827T>A | CA359535898 | LIFR | c.2489A>T (p.Lys830Met) n.322A>T c.2543A>T (p.Lys848Met) | |
| 5 | g.38485827T>C | CA359535900 | LIFR | c.2489A>G (p.Lys830Arg) n.322A>G c.2543A>G (p.Lys848Arg) | |
| 5 | g.38485827T>G | CA359535901 | LIFR | c.2489A>C (p.Lys830Thr) n.322A>C c.2543A>C (p.Lys848Thr) | |
| 5 | g.38485828T>A | CA359535903 | LIFR | c.2488A>T (p.Lys830Ter) n.321A>T c.2542A>T (p.Lys848Ter) | |
| 5 | g.38485828T>C | CA359535905 | LIFR | c.2488A>G (p.Lys830Glu) n.321A>G c.2542A>G (p.Lys848Glu) | |
| 5 | g.38485828T>G | CA359535906 | LIFR | c.2488A>C (p.Lys830Gln) n.321A>C c.2542A>C (p.Lys848Gln) | |
| 5 | g.38485829T>A | CA443943761 | LIFR | c.2487A>T (p.Thr829=) n.320A>T c.2541A>T (p.Thr847=) | |
| 5 | g.38485829T>C | CA443943762 | LIFR | c.2487A>G (p.Thr829=) n.320A>G c.2541A>G (p.Thr847=) | ClinVar |
| 5 | g.38485829T>G | CA443943764 | LIFR | c.2487A>C (p.Thr829=) n.320A>C c.2541A>C (p.Thr847=) | |
| 5 | g.38485830G>A | CA359535907 | LIFR | c.2486C>T (p.Thr829Ile) n.319C>T c.2540C>T (p.Thr847Ile) |