Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
2 | g.219418983_219419003del | CA217075 | DES | c.521_541del (p.Ala174_Arg180del) c.495+26_495+46del (n.495+26_495+46del) | ClinVar dbSNP |
2 | g.219418985_219419003del | CA2663250435 | DES | c.523_541del (p.Arg175ThrfsTer20) c.495+28_495+46del (n.495+28_495+46del) | gnomAD v4 |
2 | g.219418994_219419009delinsGTCGAGCGCGACAACC | CA1329210137 | DES | c.532_547delinsGTCGAGCGCGACAACC (p.Val178=) c.495+37_495+52delinsGTCGAGCGCGACAACC (n.495+37_495+52delinsGTCGAGCGCGACAACC) | |
2 | g.219418994_219419012delinsGTCGAGCGCGACAACCTGC | CA1329210138 | DES | c.532_550delinsGTCGAGCGCGACAACCTGC (p.Val178=) c.495+37_495+55delinsGTCGAGCGCGACAACCTGC (n.495+37_495+55delinsGTCGAGCGCGACAACCTGC) | |
2 | g.219418996_219419010del | CA1329210139 | DES | c.534_548del (p.Glu179_Leu183del) c.495+39_495+53del (n.495+39_495+53del) | dbSNP |
2 | g.219418999_219419016del | CA539843108 | DES | c.537_554del (p.Glu179_Leu184del) c.495+42_495+59del (n.495+42_495+59del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418999_219419004dup | CA2580065793 | DES | c.537_542dup (p.Arg180_Asp181insGluArg) c.495+42_495+47dup (n.495+42_495+47dup) | ClinVar |
2 | g.219418998_219419011del | CA2663250457 | DES | c.536_549del (p.Glu179AlafsTer?) c.495+41_495+54del (n.495+41_495+54del) | gnomAD v4 |
2 | g.219419001_219419013delinsGCGACAACCTGCT | CA1329210145 | DES | c.539_551delinsGCGACAACCTGCT (p.Arg180=) c.495+44_495+56delinsGCGACAACCTGCT (n.495+44_495+56delinsGCGACAACCTGCT) | |
2 | g.219419006_219419017del | CA916081392 | DES | c.544_555del (p.Asn182_Asp185del) c.495+49_495+60del (n.495+49_495+60del) | ClinVar dbSNP |
2 | g.219419006_219419020del | CA2580065795 | DES | c.544_558del (p.Asn182_Asp186del) c.495+49_495+63del (n.495+49_495+63del) | ClinVar |
2 | g.219419003G>A | CA350686998 | DES | c.541G>A (p.Asp181Asn) c.495+46G>A (n.495+46G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419003G>C | CA350686999 | DES | c.541G>C (p.Asp181His) c.495+46G>C (n.495+46G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.219419003G= | CA1329210147 | DES | c.541G= (p.Asp181=) c.495+46G= (n.495+46G=) | |
2 | g.219419003G>T | CA350687002 | DES | c.541G>T (p.Asp181Tyr) c.495+46G>T (n.495+46G>T) | gnomAD v4 |
2 | g.219419004A>C | CA350687007 | DES | c.542A>C (p.Asp181Ala) c.495+47A>C (n.495+47A>C) | |
2 | g.219419004A>G | CA350687009 | DES | c.542A>G (p.Asp181Gly) c.495+47A>G (n.495+47A>G) | |
2 | g.219419004A>T | CA350687012 | DES | c.542A>T (p.Asp181Val) c.495+47A>T (n.495+47A>T) | |
2 | g.219419004_219419012del | CA2580065797 | DES | c.542_550del (p.Asp181_Leu184delinsVal) c.495+47_495+55del (n.495+47_495+55del) | ClinVar |
2 | g.219419005C>A | CA350687017 | DES | c.543C>A (p.Asp181Glu) c.495+48C>A (n.495+48C>A) | gnomAD v4 |
2 | g.219419005C= | CA1329210148 | DES | c.543C= (p.Asp181=) c.495+48C= (n.495+48C=) | |
2 | g.219419005C>G | CA350687020 | DES | c.543C>G (p.Asp181Glu) c.495+48C>G (n.495+48C>G) | ClinVar gnomAD v4 |
2 | g.219419005C>T | CA431427950 | DES | c.543C>T (p.Asp181=) c.495+48C>T (n.495+48C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.219419006A= | CA1329210149 | DES | c.544A= (p.Asn182=) c.495+49A= (n.495+49A=) | |
2 | g.219419006A>C | CA350687027 | DES | c.544A>C (p.Asn182His) c.495+49A>C (n.495+49A>C) | dbSNP gnomAD v4 |
2 | g.219419006A>G | CA350687030 | DES | c.544A>G (p.Asn182Asp) c.495+49A>G (n.495+49A>G) | |
2 | g.219419006A>T | CA350687024 | DES | c.544A>T (p.Asn182Tyr) c.495+49A>T (n.495+49A>T) | |
2 | g.219419007A= | CA1329210150 | DES | c.545A= (p.Asn182=) c.495+50A= (n.495+50A=) | |
2 | g.219419007A>C | CA350687038 | DES | c.545A>C (p.Asn182Thr) c.495+50A>C (n.495+50A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419007A>G | CA350687032 | DES | c.545A>G (p.Asn182Ser) c.495+50A>G (n.495+50A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419007A>T | CA350687035 | DES | c.545A>T (p.Asn182Ile) c.495+50A>T (n.495+50A>T) | |
2 | g.219419008C>A | CA350687042 | DES | c.546C>A (p.Asn182Lys) c.495+51C>A (n.495+51C>A) | gnomAD v4 |
2 | g.219419008C= | CA1329210151 | DES | c.546C= (p.Asn182=) c.495+51C= (n.495+51C=) | |
2 | g.219419008C>G | CA350687045 | DES | c.546C>G (p.Asn182Lys) c.495+51C>G (n.495+51C>G) | dbSNP gnomAD v4 |
2 | g.219419008C>T | CA431427951 | DES | c.546C>T (p.Asn182=) c.495+51C>T (n.495+51C>T) | gnomAD v4 |
2 | g.219419009del | CA2663250458 | DES | c.547del (p.Leu183CysfsTer18) c.495+52del (n.495+52del) | gnomAD v4 |
2 | g.219419009C>A | CA350687049 | DES | c.547C>A (p.Leu183Met) c.495+52C>A (n.495+52C>A) | gnomAD v4 |
2 | g.219419009C>G | CA350687050 | DES | c.547C>G (p.Leu183Val) c.495+52C>G (n.495+52C>G) | |
2 | g.219419009C>T | CA431427952 | DES | c.547C>T (p.Leu183=) c.495+52C>T (n.495+52C>T) | gnomAD v4 |
2 | g.219419010T>A | CA350687054 | DES | c.548T>A (p.Leu183Gln) c.495+53T>A (n.495+53T>A) | |
2 | g.219419010T>C | CA350687057 | DES | c.548T>C (p.Leu183Pro) c.495+53T>C (n.495+53T>C) | gnomAD v4 |
2 | g.219419010T>G | CA350687059 | DES | c.548T>G (p.Leu183Arg) c.495+53T>G (n.495+53T>G) | |
2 | g.219419011G>A | CA431284037 | DES | c.549G>A (p.Leu183=) c.495+54G>A (n.495+54G>A) | |
2 | g.219419011G>C | CA431284036 | DES | c.549G>C (p.Leu183=) c.495+54G>C (n.495+54G>C) | |
2 | g.219419011G>T | CA431284035 | DES | c.549G>T (p.Leu183=) c.495+54G>T (n.495+54G>T) | gnomAD v4 |
2 | g.219419011_219419026del | CA2740096473 | DES | c.549_564del (p.Leu184GlyfsTer12) c.495+54_495+69del (n.495+54_495+69del) | ClinVar |
2 | g.219419012C>A | CA350687062 | DES | c.550C>A (p.Leu184Ile) c.495+55C>A (n.495+55C>A) | gnomAD v4 |
2 | g.219419012C= | CA1329210152 | DES | c.550C= (p.Leu184=) c.495+55C= (n.495+55C=) | |
2 | g.219419012C>G | CA350687068 | DES | c.550C>G (p.Leu184Val) c.495+55C>G (n.495+55C>G) |