Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.14130813T>A | CA2664568759 | TMEM43 | c.*193-9T>A (n.*193-9T>A) c.163-9T>A (n.163-9T>A) c.58-9T>A (n.58-9T>A) | gnomAD v4 |
3 | g.14130815C= | CA1346968550 | TMEM43 | c.*193-7C= (n.*193-7C=) c.163-7C= (n.163-7C=) c.58-7C= (n.58-7C=) | |
3 | g.14130815C>T | CA052020 | TMEM43 | c.*193-7C>T (n.*193-7C>T) c.163-7C>T (n.163-7C>T) c.58-7C>T (n.58-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14130816_14130817del | CA052006 | TMEM43 | c.*193-6_*193-5del (n.*193-6_*193-5del) c.163-6_163-5del (n.163-6_163-5del) c.58-6_58-5del (n.58-6_58-5del) | |
3 | g.14130816T>A | CA2266934 | TMEM43 | c.*193-6T>A (n.*193-6T>A) c.163-6T>A (n.163-6T>A) c.58-6T>A (n.58-6T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14130816T>C | CA69728962 | TMEM43 | c.*193-6T>C (n.*193-6T>C) c.163-6T>C (n.163-6T>C) c.58-6T>C (n.58-6T>C) | dbSNP |
3 | g.14130816T= | CA1346968552 | TMEM43 | c.*193-6T= (n.*193-6T=) c.163-6T= (n.163-6T=) c.58-6T= (n.58-6T=) | |
3 | g.14130816_14130817delinsTC | CA1346968551 | TMEM43 | c.*193-6_*193-5delinsTC (n.*193-6_*193-5delinsTC) c.163-6_163-5delinsTC (n.163-6_163-5delinsTC) c.58-6_58-5delinsTC (n.58-6_58-5delinsTC) | |
3 | g.14130817C>A | CA1346968554 | TMEM43 | c.*193-5C>A (n.*193-5C>A) c.163-5C>A (n.163-5C>A) c.58-5C>A (n.58-5C>A) | dbSNP |
3 | g.14130817C= | CA1346968553 | TMEM43 | c.*193-5C= (n.*193-5C=) c.163-5C= (n.163-5C=) c.58-5C= (n.58-5C=) | |
3 | g.14130819del | CA024611 | TMEM43 | c.*193-3del (n.*193-3del) c.163-3del (n.163-3del) c.58-3del (n.58-3del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14130818_14130819insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT | CA2504929286 | TMEM43 | c.*193-4_*193-3insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT (n.*193-4_*193-3insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT) c.163-4_163-3insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT (n.163-4_163-3insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT) c.58-4_58-3insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT (n.58-4_58-3insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT) | |
3 | g.14130819C= | CA1346968555 | TMEM43 | c.*193-3C= (n.*193-3C=) c.163-3C= (n.163-3C=) c.58-3C= (n.58-3C=) | |
3 | g.14130819C>T | CA69728967 | TMEM43 | c.*193-3C>T (n.*193-3C>T) c.163-3C>T (n.163-3C>T) c.58-3C>T (n.58-3C>T) | dbSNP |
3 | g.14130820A= | CA1346968556 | TMEM43 | c.*193-2A= (n.*193-2A=) c.163-2A= (n.163-2A=) c.58-2A= (n.58-2A=) | |
3 | g.14130820A>C | CA351534478 | TMEM43 | c.*193-2A>C (n.*193-2A>C) c.163-2A>C (n.163-2A>C) c.58-2A>C (n.58-2A>C) | |
3 | g.14130820A>G | CA051997 | TMEM43 | c.*193-2A>G (n.*193-2A>G) c.163-2A>G (n.163-2A>G) c.58-2A>G (n.58-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14130820A>T | CA351534479 | TMEM43 | c.*193-2A>T (n.*193-2A>T) c.163-2A>T (n.163-2A>T) c.58-2A>T (n.58-2A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.14130821G>A | CA351534481 | TMEM43 | c.*193-1G>A (n.*193-1G>A) c.163-1G>A (n.163-1G>A) c.58-1G>A (n.58-1G>A) | |
3 | g.14130821G>C | CA16609719 | TMEM43 | c.*193-1G>C (n.*193-1G>C) c.163-1G>C (n.163-1G>C) c.58-1G>C (n.58-1G>C) | ClinVar dbSNP gnomAD v4 |
3 | g.14130821G= | CA1346968557 | TMEM43 | c.*193-1G= (n.*193-1G=) c.163-1G= (n.163-1G=) c.58-1G= (n.58-1G=) | |
3 | g.14130821G>T | CA351534480 | TMEM43 | c.*193-1G>T (n.*193-1G>T) c.163-1G>T (n.163-1G>T) c.58-1G>T (n.58-1G>T) | |
3 | g.14130822G>A | CA351534482 | TMEM43 | c.*193G>A (n.*193G>A) c.163G>A (p.Gly55Ser) c.58G>A (p.Gly20Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.14130822G>C | CA351534483 | TMEM43 | c.*193G>C (n.*193G>C) c.163G>C (p.Gly55Arg) c.58G>C (p.Gly20Arg) | |
3 | g.14130822G= | CA1346968558 | TMEM43 | c.*193G= (n.*193G=) c.163G= (p.Gly55=) c.58G= (p.Gly20=) | |
3 | g.14130822G>T | CA351534484 | TMEM43 | c.*193G>T (n.*193G>T) c.163G>T (p.Gly55Cys) c.58G>T (p.Gly20Cys) | |
3 | g.14130823G>A | CA024614 | TMEM43 | c.*194G>A (n.*194G>A) c.164G>A (p.Gly55Asp) c.59G>A (p.Gly20Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14130823G>C | CA351534485 | TMEM43 | c.*194G>C (n.*194G>C) c.164G>C (p.Gly55Ala) c.59G>C (p.Gly20Ala) | |
3 | g.14130823G= | CA1346968559 | TMEM43 | c.*194G= (n.*194G=) c.164G= (p.Gly55=) c.59G= (p.Gly20=) | |
3 | g.14130823G>T | CA351534486 | TMEM43 | c.*194G>T (n.*194G>T) c.164G>T (p.Gly55Val) c.59G>T (p.Gly20Val) | |
3 | g.14130824C>A | CA432551078 | TMEM43 | c.*195C>A (n.*195C>A) c.165C>A (p.Gly55=) c.60C>A (p.Gly20=) | |
3 | g.14130824C= | CA1346968560 | TMEM43 | c.*195C= (n.*195C=) c.165C= (p.Gly55=) c.60C= (p.Gly20=) | |
3 | g.14130824C>G | CA432551079 | TMEM43 | c.*195C>G (n.*195C>G) c.165C>G (p.Gly55=) c.60C>G (p.Gly20=) | dbSNP gnomAD v4 |
3 | g.14130824C>T | CA432551080 | TMEM43 | c.*195C>T (n.*195C>T) c.165C>T (p.Gly55=) c.60C>T (p.Gly20=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14130825C>A | CA351534487 | TMEM43 | c.*196C>A (n.*196C>A) c.166C>A (p.Arg56Ser) c.61C>A (p.Arg21Ser) | |
3 | g.14130825C= | CA1346968561 | TMEM43 | c.*196C= (n.*196C=) c.166C= (p.Arg56=) c.61C= (p.Arg21=) | |
3 | g.14130825C>G | CA351534488 | TMEM43 | c.*196C>G (n.*196C>G) c.166C>G (p.Arg56Gly) c.61C>G (p.Arg21Gly) | |
3 | g.14130825C>T | CA052036 | TMEM43 | c.*196C>T (n.*196C>T) c.166C>T (p.Arg56Cys) c.61C>T (p.Arg21Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14130826G>A | CA052046 | TMEM43 | c.*197G>A (n.*197G>A) c.167G>A (p.Arg56His) c.62G>A (p.Arg21His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14130826G>C | CA351534489 | TMEM43 | c.*197G>C (n.*197G>C) c.167G>C (p.Arg56Pro) c.62G>C (p.Arg21Pro) | |
3 | g.14130826G= | CA1346968562 | TMEM43 | c.*197G= (n.*197G=) c.167G= (p.Arg56=) c.62G= (p.Arg21=) | |
3 | g.14130826G>T | CA351534490 | TMEM43 | c.*197G>T (n.*197G>T) c.167G>T (p.Arg56Leu) c.62G>T (p.Arg21Leu) | |
3 | g.14130827C>A | CA432551081 | TMEM43 | c.*198C>A (n.*198C>A) c.168C>A (p.Arg56=) c.63C>A (p.Arg21=) | |
3 | g.14130827C= | CA1346968563 | TMEM43 | c.*198C= (n.*198C=) c.168C= (p.Arg56=) c.63C= (p.Arg21=) | |
3 | g.14130827C>G | CA432551082 | TMEM43 | c.*198C>G (n.*198C>G) c.168C>G (p.Arg56=) c.63C>G (p.Arg21=) | |
3 | g.14130827C>T | CA052055 | TMEM43 | c.*198C>T (n.*198C>T) c.168C>T (p.Arg56=) c.63C>T (p.Arg21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14130828G>A | CA024618 | TMEM43 | c.*199G>A (n.*199G>A) c.169G>A (p.Ala57Thr) c.64G>A (p.Ala22Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14130828G>C | CA351534491 | TMEM43 | c.*199G>C (n.*199G>C) c.169G>C (p.Ala57Pro) c.64G>C (p.Ala22Pro) | gnomAD v4 |
3 | g.14130828G= | CA1346968564 | TMEM43 | c.*199G= (n.*199G=) c.169G= (p.Ala57=) c.64G= (p.Ala22=) | |
3 | g.14130828G>T | CA052070 | TMEM43 | c.*199G>T (n.*199G>T) c.169G>T (p.Ala57Ser) c.64G>T (p.Ala22Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |