Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418465_219418509del | CA2663248423 | DES | c.3_47del (p.Met1_Arg16delinsIle) | gnomAD v4 |
2 | g.219418466_219418517dup | CA2663248413 | DES | c.4_55dup (p.Gly19GlufsTer42) | gnomAD v4 |
2 | g.219418497C>A | CA350682247 | DES | c.35C>A (p.Ser12Tyr) | |
2 | g.219418497C= | CA1329209813 | DES | c.35C= (p.Ser12=) | |
2 | g.219418497C>G | CA350682251 | DES | c.35C>G (p.Ser12Cys) | |
2 | g.219418497C>T | CA217069 | DES | c.35C>T (p.Ser12Phe) | ClinVar dbSNP gnomAD v4 |
2 | g.219418498C>A | CA431284019 | DES | c.36C>A (p.Ser12=) | gnomAD v4 |
2 | g.219418498C>G | CA431284020 | DES | c.36C>G (p.Ser12=) | |
2 | g.219418498C>T | CA431284021 | DES | c.36C>T (p.Ser12=) | ClinVar gnomAD v4 |
2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
2 | g.219418499T>A | CA350682264 | DES | c.37T>A (p.Ser13Thr) | |
2 | g.219418499T>C | CA350682267 | DES | c.37T>C (p.Ser13Pro) | ClinVar dbSNP |
2 | g.219418499T>G | CA350682270 | DES | c.37T>G (p.Ser13Ala) | |
2 | g.219418499T= | CA1329209814 | DES | c.37T= (p.Ser13=) | |
2 | g.219418499_219418511delinsTCCTACCGCCGCA | CA1329209815 | DES | c.37_49delinsTCCTACCGCCGCA (p.Ser13=) | |
2 | g.219418500C>A | CA350682283 | DES | c.38C>A (p.Ser13Tyr) | ClinVar dbSNP |
2 | g.219418500C= | CA1329209816 | DES | c.38C= (p.Ser13=) | |
2 | g.219418500C>G | CA350682275 | DES | c.38C>G (p.Ser13Cys) | |
2 | g.219418500C>T | CA261520 | DES | c.38C>T (p.Ser13Phe) | ClinVar dbSNP |
2 | g.219418503_219418514del | CA1042519974 | DES | c.41_52del (p.Tyr14_Thr17del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418501C>A | CA431427411 | DES | c.39C>A (p.Ser13=) | gnomAD v4 |
2 | g.219418501C>G | CA431427412 | DES | c.39C>G (p.Ser13=) | gnomAD v4 |
2 | g.219418501C>T | CA431427413 | DES | c.39C>T (p.Ser13=) | |
2 | g.219418502del | CA2663248650 | DES | c.40del (p.Tyr14ThrfsTer17) | gnomAD v4 |
2 | g.219418502T>A | CA350682285 | DES | c.40T>A (p.Tyr14Asn) | |
2 | g.219418502T>C | CA2125006 | DES | c.40T>C (p.Tyr14His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418502T>G | CA350682287 | DES | c.40T>G (p.Tyr14Asp) | |
2 | g.219418502T= | CA1329209817 | DES | c.40T= (p.Tyr14=) | |
2 | g.219418503A>C | CA350682294 | DES | c.41A>C (p.Tyr14Ser) | dbSNP gnomAD v4 |
2 | g.219418503A>G | CA350682296 | DES | c.41A>G (p.Tyr14Cys) | |
2 | g.219418503A>T | CA350682298 | DES | c.41A>T (p.Tyr14Phe) | |
2 | g.219418504C>A | CA350682306 | DES | c.42C>A (p.Tyr14Ter) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.219418504C= | CA1329209818 | DES | c.42C= (p.Tyr14=) | |
2 | g.219418504C>G | CA350682314 | DES | c.42C>G (p.Tyr14Ter) | |
2 | g.219418504C>T | CA431427414 | DES | c.42C>T (p.Tyr14=) | |
2 | g.219418505C>A | CA16622111 | DES | c.43C>A (p.Arg15Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418505C= | CA1329209819 | DES | c.43C= (p.Arg15=) | |
2 | g.219418505C>G | CA2125007 | DES | c.43C>G (p.Arg15Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418505C>T | CA2125008 | DES | c.43C>T (p.Arg15Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418506G>A | CA65980589 | DES | c.44G>A (p.Arg15His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418506G>C | CA350682324 | DES | c.44G>C (p.Arg15Pro) | dbSNP |
2 | g.219418506G= | CA1329209820 | DES | c.44G= (p.Arg15=) | |
2 | g.219418506G>T | CA350682330 | DES | c.44G>T (p.Arg15Leu) | gnomAD v4 |
2 | g.219418507C>A | CA431427415 | DES | c.45C>A (p.Arg15=) | gnomAD v4 |
2 | g.219418507C= | CA1329209821 | DES | c.45C= (p.Arg15=) | |
2 | g.219418507C>G | CA431427416 | DES | c.45C>G (p.Arg15=) | |
2 | g.219418507C>T | CA431427417 | DES | c.45C>T (p.Arg15=) | ClinVar dbSNP |
2 | g.219418508C>A | CA350682339 | DES | c.46C>A (p.Arg16Ser) | ClinVar dbSNP |
2 | g.219418508C= | CA1329209822 | DES | c.46C= (p.Arg16=) | |
2 | g.219418508C>G | CA350682336 | DES | c.46C>G (p.Arg16Gly) |