UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160881959T>A | CA343307032 | ITLN1 | c.403A>T (p.Lys135Ter) n.337A>T | |
| 1 | g.160881959T>C | CA343307030 | ITLN1 | c.403A>G (p.Lys135Glu) n.337A>G | |
| 1 | g.160881959T>G | CA343307031 | ITLN1 | c.403A>C (p.Lys135Gln) n.337A>C | |
| 1 | g.160881960G>A | CA1202671 | ITLN1 | c.402C>T (p.Tyr134=) n.336C>T | dbSNP ExAC |
| 1 | g.160881960G>C | CA343307033 | ITLN1 | c.402C>G (p.Tyr134Ter) n.336C>G | |
| 1 | g.160881960G= | CA1202506309 | ITLN1 | c.402C= (p.Tyr134=) n.336C= | |
| 1 | g.160881960G>T | CA343307034 | ITLN1 | c.402C>A (p.Tyr134Ter) n.336C>A | |
| 1 | g.160881961T>A | CA343307035 | ITLN1 | c.401A>T (p.Tyr134Phe) n.335A>T | |
| 1 | g.160881961T>C | CA1202672 | ITLN1 | c.401A>G (p.Tyr134Cys) n.335A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160881961T>G | CA343307036 | ITLN1 | c.401A>C (p.Tyr134Ser) n.335A>C | |
| 1 | g.160881961T= | CA1148252842 | ITLN1 | c.401A= (p.Tyr134=) n.335A= | |
| 1 | g.160881962A>C | CA343307037 | ITLN1 | c.400T>G (p.Tyr134Asp) n.334T>G | |
| 1 | g.160881962A>G | CA343307039 | ITLN1 | c.400T>C (p.Tyr134His) n.334T>C | |
| 1 | g.160881962A>T | CA343307038 | ITLN1 | c.400T>A (p.Tyr134Asn) n.334T>A | |
| 1 | g.160881963G>A | CA421604948 | ITLN1 | c.399C>T (p.Asp133=) n.333C>T | |
| 1 | g.160881963G>C | CA1202673 | ITLN1 | c.399C>G (p.Asp133Glu) n.333C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160881963G= | CA1143970369 | ITLN1 | c.399C= (p.Asp133=) n.333C= | |
| 1 | g.160881963G>T | CA343307040 | ITLN1 | c.399C>A (p.Asp133Glu) n.333C>A | |
| 1 | g.160881964T>A | CA343307041 | ITLN1 | c.398A>T (p.Asp133Val) n.332A>T | |
| 1 | g.160881964T>C | CA343307042 | ITLN1 | c.398A>G (p.Asp133Gly) n.332A>G | |
| 1 | g.160881964T>G | CA343307043 | ITLN1 | c.398A>C (p.Asp133Ala) n.332A>C | |
| 1 | g.160881965C>A | CA343307044 | ITLN1 | c.397G>T (p.Asp133Tyr) n.331G>T | |
| 1 | g.160881965C= | CA1202506310 | ITLN1 | c.397G= (p.Asp133=) n.331G= | |
| 1 | g.160881965C>G | CA343307046 | ITLN1 | c.397G>C (p.Asp133His) n.331G>C | |
| 1 | g.160881965C>T | CA343307045 | ITLN1 | c.397G>A (p.Asp133Asn) n.331G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160881966A= | CA1202506311 | ITLN1 | c.396T= (p.Asp132=) n.330T= | |
| 1 | g.160881966A>C | CA343307047 | ITLN1 | c.396T>G (p.Asp132Glu) n.330T>G | |
| 1 | g.160881966A>G | CA1202674 | ITLN1 | c.396T>C (p.Asp132=) n.330T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160881966A>T | CA343307048 | ITLN1 | c.396T>A (p.Asp132Glu) n.330T>A | |
| 1 | g.160881967T>A | CA343307049 | ITLN1 | c.395A>T (p.Asp132Val) n.329A>T | |
| 1 | g.160881967T>C | CA343307050 | ITLN1 | c.395A>G (p.Asp132Gly) n.329A>G | |
| 1 | g.160881967T>G | CA343307051 | ITLN1 | c.395A>C (p.Asp132Ala) n.329A>C | |
| 1 | g.160881968C>A | CA343307052 | ITLN1 | c.394G>T (p.Asp132Tyr) n.328G>T | |
| 1 | g.160881968C= | CA1147015566 | ITLN1 | c.394G= (p.Asp132=) n.328G= | |
| 1 | g.160881968C>G | CA343307053 | ITLN1 | c.394G>C (p.Asp132His) n.328G>C | |
| 1 | g.160881968C>T | CA1202675 | ITLN1 | c.394G>A (p.Asp132Asn) n.328G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160881969G>A | CA1202676 | ITLN1 | c.393C>T (p.Ser131=) n.327C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160881969G>C | CA343307054 | ITLN1 | c.393C>G (p.Ser131Arg) n.327C>G | |
| 1 | g.160881969G= | CA1202506312 | ITLN1 | c.393C= (p.Ser131=) n.327C= | |
| 1 | g.160881969G>T | CA343307055 | ITLN1 | c.393C>A (p.Ser131Arg) n.327C>A | gnomAD v4 |
| 1 | g.160881970C>A | CA343307056 | ITLN1 | c.392G>T (p.Ser131Ile) n.326G>T | |
| 1 | g.160881970C= | CA1202506313 | ITLN1 | c.392G= (p.Ser131=) n.326G= | |
| 1 | g.160881970C>G | CA343307058 | ITLN1 | c.392G>C (p.Ser131Thr) n.326G>C | |
| 1 | g.160881970C>T | CA343307057 | ITLN1 | c.392G>A (p.Ser131Asn) n.326G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160881971T>A | CA343307059 | ITLN1 | c.391A>T (p.Ser131Cys) n.325A>T | |
| 1 | g.160881971T>C | CA343307060 | ITLN1 | c.391A>G (p.Ser131Gly) n.325A>G | |
| 1 | g.160881971T>G | CA343307061 | ITLN1 | c.391A>C (p.Ser131Arg) n.325A>C | |
| 1 | g.160881972C>A | CA421604949 | ITLN1 | c.390G>T (p.Thr130=) n.324G>T | |
| 1 | g.160881972C= | CA1143521377 | ITLN1 | c.390G= (p.Thr130=) n.324G= | |
| 1 | g.160881972C>G | CA421604950 | ITLN1 | c.390G>C (p.Thr130=) n.324G>C | |
| 1 | g.160881972C>T | CA1202677 | ITLN1 | c.390G>A (p.Thr130=) n.324G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160881973G>A | CA1202678 | ITLN1 | c.389C>T (p.Thr130Met) n.323C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160881973G>C | CA343307062 | ITLN1 | c.389C>G (p.Thr130Arg) n.323C>G | |
| 1 | g.160881973G= | CA1143486190 | ITLN1 | c.389C= (p.Thr130=) n.323C= | |
| 1 | g.160881973G>T | CA343307063 | ITLN1 | c.389C>A (p.Thr130Lys) n.323C>A | |
| 1 | g.160881974T>A | CA343307064 | ITLN1 | c.388A>T (p.Thr130Ser) n.322A>T | |
| 1 | g.160881974T>C | CA343307065 | ITLN1 | c.388A>G (p.Thr130Ala) n.322A>G | |
| 1 | g.160881974T>G | CA343307066 | ITLN1 | c.388A>C (p.Thr130Pro) n.322A>C | |
| 1 | g.160881975G>A | CA421604953 | ITLN1 | c.387C>T (p.Ala129=) n.321C>T | |
| 1 | g.160881975G>C | CA421604952 | ITLN1 | c.387C>G (p.Ala129=) n.321C>G | |
| 1 | g.160881975G>T | CA421604951 | ITLN1 | c.387C>A (p.Ala129=) n.321C>A | |
| 1 | g.160881976G>A | CA343307067 | ITLN1 | c.386C>T (p.Ala129Val) n.320C>T | COSMIC |
| 1 | g.160881976G>C | CA343307068 | ITLN1 | c.386C>G (p.Ala129Gly) n.320C>G | |
| 1 | g.160881976G>T | CA343307069 | ITLN1 | c.386C>A (p.Ala129Asp) n.320C>A | |
| 1 | g.160881977C>A | CA343307072 | ITLN1 | c.385G>T (p.Ala129Ser) n.319G>T | |
| 1 | g.160881977C>G | CA343307070 | ITLN1 | c.385G>C (p.Ala129Pro) n.319G>C | |
| 1 | g.160881977C>T | CA343307071 | ITLN1 | c.385G>A (p.Ala129Thr) n.319G>A | |
| 1 | g.160881978C>A | CA421604954 | ITLN1 | c.384G>T (p.Ala128=) n.318G>T | COSMIC |
| 1 | g.160881978C= | CA1142204925 | ITLN1 | c.384G= (p.Ala128=) n.318G= | |
| 1 | g.160881978C>G | CA421604955 | ITLN1 | c.384G>C (p.Ala128=) n.318G>C | COSMIC |
| 1 | g.160881978C>T | CA1202679 | ITLN1 | c.384G>A (p.Ala128=) n.318G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160881979G>A | CA1202680 | ITLN1 | c.383C>T (p.Ala128Val) n.317C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160881979G>C | CA31617242 | ITLN1 | c.383C>G (p.Ala128Gly) n.317C>G | dbSNP |
| 1 | g.160881979G= | CA1202506314 | ITLN1 | c.383C= (p.Ala128=) n.317C= | |
| 1 | g.160881979G>T | CA343307073 | ITLN1 | c.383C>A (p.Ala128Glu) n.317C>A | |
| 1 | g.160881980C>A | CA343307074 | ITLN1 | c.382G>T (p.Ala128Ser) n.316G>T | |
| 1 | g.160881980C>G | CA343307075 | ITLN1 | c.382G>C (p.Ala128Pro) n.316G>C | |
| 1 | g.160881980C>T | CA343307076 | ITLN1 | c.382G>A (p.Ala128Thr) n.316G>A | |
| 1 | g.160881981C>A | CA343307077 | ITLN1 | c.381G>T (p.Glu127Asp) n.315G>T | |
| 1 | g.160881981C>G | CA343307078 | ITLN1 | c.381G>C (p.Glu127Asp) n.315G>C | |
| 1 | g.160881981C>T | CA421604956 | ITLN1 | c.381G>A (p.Glu127=) n.315G>A | gnomAD v4 |
| 1 | g.160881982T>A | CA343307079 | ITLN1 | c.380A>T (p.Glu127Val) n.314A>T | |
| 1 | g.160881982T>C | CA1202681 | ITLN1 | c.380A>G (p.Glu127Gly) n.314A>G | dbSNP ExAC |
| 1 | g.160881982T>G | CA343307080 | ITLN1 | c.380A>C (p.Glu127Ala) n.314A>C | |
| 1 | g.160881982T= | CA1202506315 | ITLN1 | c.380A= (p.Glu127=) n.314A= | |
| 1 | g.160881983C>A | CA343307083 | ITLN1 | c.379G>T (p.Glu127Ter) n.313G>T | |
| 1 | g.160881983C>G | CA343307081 | ITLN1 | c.379G>C (p.Glu127Gln) n.313G>C | |
| 1 | g.160881983C>T | CA343307082 | ITLN1 | c.379G>A (p.Glu127Lys) n.313G>A | |
| 1 | g.160881984T>A | CA421604957 | ITLN1 | c.378A>T (p.Ala126=) n.312A>T | |
| 1 | g.160881984T>C | CA1202682 | ITLN1 | c.378A>G (p.Ala126=) n.312A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160881984T>G | CA421604958 | ITLN1 | c.378A>C (p.Ala126=) n.312A>C | |
| 1 | g.160881984T= | CA1202506316 | ITLN1 | c.378A= (p.Ala126=) n.312A= | |
| 1 | g.160881985G>A | CA343307084 | ITLN1 | c.377C>T (p.Ala126Val) n.311C>T | |
| 1 | g.160881985G>C | CA343307085 | ITLN1 | c.377C>G (p.Ala126Gly) n.311C>G | |
| 1 | g.160881985G>T | CA343307086 | ITLN1 | c.377C>A (p.Ala126Glu) n.311C>A | |
| 1 | g.160881986C>A | CA343307087 | ITLN1 | c.376G>T (p.Ala126Ser) n.310G>T | |
| 1 | g.160881986C>G | CA343307088 | ITLN1 | c.376G>C (p.Ala126Pro) n.310G>C | |
| 1 | g.160881986C>T | CA343307089 | ITLN1 | c.376G>A (p.Ala126Thr) n.310G>A | |
| 1 | g.160881987del | CA2648717340 | ITLN1 | c.375del (p.Ala126GlnfsTer?) n.309del | gnomAD v4 |
| 1 | g.160881987A>C | CA421604959 | ITLN1 | c.375T>G (p.Ser125=) n.309T>G | |
| 1 | g.160881987A>G | CA421604960 | ITLN1 | c.375T>C (p.Ser125=) n.309T>C | |
| 1 | g.160881987A>T | CA421604961 | ITLN1 | c.375T>A (p.Ser125=) n.309T>A | |
| 1 | g.160881988G>A | CA343307092 | ITLN1 | c.374C>T (p.Ser125Phe) n.308C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160881988G>C | CA343307090 | ITLN1 | c.374C>G (p.Ser125Cys) n.308C>G | COSMIC |
| 1 | g.160881988G= | CA1202506317 | ITLN1 | c.374C= (p.Ser125=) n.308C= | |
| 1 | g.160881988G>T | CA343307091 | ITLN1 | c.374C>A (p.Ser125Tyr) n.308C>A | |
| 1 | g.160881989A>C | CA343307093 | ITLN1 | c.373T>G (p.Ser125Ala) n.307T>G | |
| 1 | g.160881989A>G | CA343307094 | ITLN1 | c.373T>C (p.Ser125Pro) n.307T>C | |
| 1 | g.160881989A>T | CA343307095 | ITLN1 | c.373T>A (p.Ser125Thr) n.307T>A | |
| 1 | g.160881990T>A | CA421604962 | ITLN1 | c.372A>T (p.Gly124=) n.306A>T | |
| 1 | g.160881990T>C | CA421604963 | ITLN1 | c.372A>G (p.Gly124=) n.306A>G | |
| 1 | g.160881990T>G | CA421604964 | ITLN1 | c.372A>C (p.Gly124=) n.306A>C | |
| 1 | g.160881991C>A | CA1202683 | ITLN1 | c.371G>T (p.Gly124Val) n.305G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160881991C= | CA1144170599 | ITLN1 | c.371G= (p.Gly124=) n.305G= | |
| 1 | g.160881991C>G | CA343307096 | ITLN1 | c.371G>C (p.Gly124Ala) n.305G>C | |
| 1 | g.160881991C>T | CA343307097 | ITLN1 | c.371G>A (p.Gly124Glu) n.305G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160881992C>A | CA343307098 | ITLN1 | c.370G>T (p.Gly124Ter) n.304G>T | |
| 1 | g.160881992C>G | CA343307100 | ITLN1 | c.370G>C (p.Gly124Arg) n.304G>C | |
| 1 | g.160881992C>T | CA343307099 | ITLN1 | c.370G>A (p.Gly124Arg) n.304G>A | |
| 1 | g.160881993A>C | CA343307101 | ITLN1 | c.369T>G (p.Phe123Leu) n.303T>G | |
| 1 | g.160881993A>G | CA421604966 | ITLN1 | c.369T>C (p.Phe123=) n.303T>C | |
| 1 | g.160881993A>T | CA343307102 | ITLN1 | c.369T>A (p.Phe123Leu) n.303T>A | |
| 1 | g.160881994A>C | CA343307103 | ITLN1 | c.368T>G (p.Phe123Cys) n.302T>G | |
| 1 | g.160881994A>G | CA343307104 | ITLN1 | c.368T>C (p.Phe123Ser) n.302T>C | |
| 1 | g.160881994A>T | CA343307105 | ITLN1 | c.368T>A (p.Phe123Tyr) n.302T>A | |
| 1 | g.160881995A= | CA1202506318 | ITLN1 | c.367T= (p.Phe123=) n.301T= | |
| 1 | g.160881995A>C | CA343307106 | ITLN1 | c.367T>G (p.Phe123Val) n.301T>G | dbSNP |
| 1 | g.160881995A>G | CA343307107 | ITLN1 | c.367T>C (p.Phe123Leu) n.301T>C | dbSNP |
| 1 | g.160881995A>T | CA343307108 | ITLN1 | c.367T>A (p.Phe123Ile) n.301T>A | |
| 1 | g.160881996G>A | CA1202684 | ITLN1 | c.366C>T (p.Thr122=) n.300C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160881996G>C | CA421604968 | ITLN1 | c.366C>G (p.Thr122=) n.300C>G | |
| 1 | g.160881996G= | CA1143701598 | ITLN1 | c.366C= (p.Thr122=) n.300C= | |
| 1 | g.160881996G>T | CA421604969 | ITLN1 | c.366C>A (p.Thr122=) n.300C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160881997G>A | CA343307109 | ITLN1 | c.365C>T (p.Thr122Ile) n.299C>T | dbSNP |
| 1 | g.160881997G>C | CA31617252 | ITLN1 | c.365C>G (p.Thr122Ser) n.299C>G | dbSNP |
| 1 | g.160881997G= | CA1202506319 | ITLN1 | c.365C= (p.Thr122=) n.299C= | |
| 1 | g.160881997G>T | CA343307110 | ITLN1 | c.365C>A (p.Thr122Asn) n.299C>A | |
| 1 | g.160881998T>A | CA343307111 | ITLN1 | c.364A>T (p.Thr122Ser) n.298A>T | |
| 1 | g.160881998T>C | CA343307113 | ITLN1 | c.364A>G (p.Thr122Ala) n.298A>G | |
| 1 | g.160881998T>G | CA343307112 | ITLN1 | c.364A>C (p.Thr122Pro) n.298A>C | |
| 1 | g.160881999G>A | CA421604971 | ITLN1 | c.363C>T (p.Asn121=) n.297C>T | gnomAD v4 |
| 1 | g.160881999G>C | CA343307114 | ITLN1 | c.363C>G (p.Asn121Lys) n.297C>G | |
| 1 | g.160881999G>T | CA343307115 | ITLN1 | c.363C>A (p.Asn121Lys) n.297C>A | |
| 1 | g.160882000T>A | CA343307116 | ITLN1 | c.362A>T (p.Asn121Ile) n.296A>T | |
| 1 | g.160882000T>C | CA343307117 | ITLN1 | c.362A>G (p.Asn121Ser) n.296A>G | |
| 1 | g.160882000T>G | CA343307118 | ITLN1 | c.362A>C (p.Asn121Thr) n.296A>C | |
| 1 | g.160882001T>A | CA343307119 | ITLN1 | c.361A>T (p.Asn121Tyr) n.295A>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160882001T>C | CA343307120 | ITLN1 | c.361A>G (p.Asn121Asp) n.295A>G | |
| 1 | g.160882001T>G | CA343307121 | ITLN1 | c.361A>C (p.Asn121His) n.295A>C | |
| 1 | g.160882001T= | CA1202506320 | ITLN1 | c.361A= (p.Asn121=) n.295A= | |
| 1 | g.160882002G>A | CA421604975 | ITLN1 | c.360C>T (p.Tyr120=) n.294C>T | gnomAD v4 |
| 1 | g.160882002G>C | CA343307122 | ITLN1 | c.360C>G (p.Tyr120Ter) n.294C>G | |
| 1 | g.160882002G>T | CA343307123 | ITLN1 | c.360C>A (p.Tyr120Ter) n.294C>A | |
| 1 | g.160882003T>A | CA343307124 | ITLN1 | c.359A>T (p.Tyr120Phe) n.293A>T | |
| 1 | g.160882003T>C | CA343307125 | ITLN1 | c.359A>G (p.Tyr120Cys) n.293A>G | |
| 1 | g.160882003T>G | CA343307126 | ITLN1 | c.359A>C (p.Tyr120Ser) n.293A>C | |
| 1 | g.160882004A>C | CA343307129 | ITLN1 | c.358T>G (p.Tyr120Asp) n.292T>G | |
| 1 | g.160882004A>G | CA343307127 | ITLN1 | c.358T>C (p.Tyr120His) n.292T>C | |
| 1 | g.160882004A>T | CA343307128 | ITLN1 | c.358T>A (p.Tyr120Asn) n.292T>A | |
| 1 | g.160882005G>A | CA421604978 | ITLN1 | c.357C>T (p.Asn119=) n.291C>T | |
| 1 | g.160882005G>C | CA343307130 | ITLN1 | c.357C>G (p.Asn119Lys) n.291C>G | |
| 1 | g.160882005G>T | CA343307131 | ITLN1 | c.357C>A (p.Asn119Lys) n.291C>A | |
| 1 | g.160882006T>A | CA343307132 | ITLN1 | c.356A>T (p.Asn119Ile) n.290A>T | |
| 1 | g.160882006T>C | CA343307133 | ITLN1 | c.356A>G (p.Asn119Ser) n.290A>G | gnomAD v4 |
| 1 | g.160882006T>G | CA31617254 | ITLN1 | c.356A>C (p.Asn119Thr) n.290A>C | dbSNP gnomAD v4 |
| 1 | g.160882006T= | CA1202506321 | ITLN1 | c.356A= (p.Asn119=) n.290A= | |
| 1 | g.160882007T>A | CA343307134 | ITLN1 | c.355A>T (p.Asn119Tyr) n.289A>T | |
| 1 | g.160882007T>C | CA343307135 | ITLN1 | c.355A>G (p.Asn119Asp) n.289A>G | |
| 1 | g.160882007T>G | CA343307136 | ITLN1 | c.355A>C (p.Asn119His) n.289A>C | |
| 1 | g.160882008G>A | CA421604981 | ITLN1 | c.354C>T (p.Ala118=) n.288C>T | |
| 1 | g.160882008G>C | CA421604982 | ITLN1 | c.354C>G (p.Ala118=) n.288C>G | |
| 1 | g.160882008G>T | CA421604983 | ITLN1 | c.354C>A (p.Ala118=) n.288C>A | |
| 1 | g.160882009G>A | CA343307137 | ITLN1 | c.353C>T (p.Ala118Val) n.287C>T | dbSNP |
| 1 | g.160882009G>C | CA343307138 | ITLN1 | c.353C>G (p.Ala118Gly) n.287C>G | |
| 1 | g.160882009G= | CA1202506322 | ITLN1 | c.353C= (p.Ala118=) n.287C= | |
| 1 | g.160882009G>T | CA343307139 | ITLN1 | c.353C>A (p.Ala118Asp) n.287C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160882010C>A | CA343307140 | ITLN1 | c.352G>T (p.Ala118Ser) n.286G>T | |
| 1 | g.160882010C>G | CA343307142 | ITLN1 | c.352G>C (p.Ala118Pro) n.286G>C | |
| 1 | g.160882010C>T | CA343307141 | ITLN1 | c.352G>A (p.Ala118Thr) n.286G>A | gnomAD v4 |
| 1 | g.160882012del | CA2574076258 | ITLN1 | c.352del (p.Ala118ProfsTer?) n.286del | |
| 1 | g.160882011C>A | CA343307143 | ITLN1 | c.351G>T (p.Trp117Cys) n.285G>T | |
| 1 | g.160882011C= | CA1202506323 | ITLN1 | c.351G= (p.Trp117=) n.285G= | |
| 1 | g.160882011C>G | CA343307145 | ITLN1 | c.351G>C (p.Trp117Cys) n.285G>C | |
| 1 | g.160882011C>T | CA343307144 | ITLN1 | c.351G>A (p.Trp117Ter) n.285G>A | dbSNP gnomAD v4 |
| 1 | g.160882012C>A | CA343307146 | ITLN1 | c.350G>T (p.Trp117Leu) n.284G>T | |
| 1 | g.160882012C>G | CA343307147 | ITLN1 | c.350G>C (p.Trp117Ser) n.284G>C | gnomAD v4 |
| 1 | g.160882012C>T | CA343307148 | ITLN1 | c.350G>A (p.Trp117Ter) n.284G>A | |
| 1 | g.160882013A= | CA1202506324 | ITLN1 | c.349T= (p.Trp117=) n.283T= | |
| 1 | g.160882013A>C | CA343307149 | ITLN1 | c.349T>G (p.Trp117Gly) n.283T>G | |
| 1 | g.160882013A>G | CA343307150 | ITLN1 | c.349T>C (p.Trp117Arg) n.283T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160882013A>T | CA343307151 | ITLN1 | c.349T>A (p.Trp117Arg) n.283T>A | |
| 1 | g.160882014G>A | CA421604990 | ITLN1 | c.348C>T (p.Asn116=) n.282C>T | |
| 1 | g.160882014G>C | CA343307152 | ITLN1 | c.348C>G (p.Asn116Lys) n.282C>G | |
| 1 | g.160882014G>T | CA343307153 | ITLN1 | c.348C>A (p.Asn116Lys) n.282C>A | |
| 1 | g.160882015T>A | CA343307154 | ITLN1 | c.347A>T (p.Asn116Ile) n.281A>T | |
| 1 | g.160882015T>C | CA343307155 | ITLN1 | c.347A>G (p.Asn116Ser) n.281A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160882015T>G | CA343307156 | ITLN1 | c.347A>C (p.Asn116Thr) n.281A>C | |
| 1 | g.160882015T= | CA1202506325 | ITLN1 | c.347A= (p.Asn116=) n.281A= | |
| 1 | g.160882016T>A | CA343307159 | ITLN1 | c.346A>T (p.Asn116Tyr) n.280A>T | |
| 1 | g.160882016T>C | CA343307158 | ITLN1 | c.346A>G (p.Asn116Asp) n.280A>G | |
| 1 | g.160882016T>G | CA343307157 | ITLN1 | c.346A>C (p.Asn116His) n.280A>C | |
| 1 | g.160882017G>A | CA421604996 | ITLN1 | c.345C>T (p.Gly115=) n.279C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160882017G>C | CA421604995 | ITLN1 | c.345C>G (p.Gly115=) n.279C>G | |
| 1 | g.160882017G= | CA1202506326 | ITLN1 | c.345C= (p.Gly115=) n.279C= | |
| 1 | g.160882017G>T | CA421604994 | ITLN1 | c.345C>A (p.Gly115=) n.279C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160882018C>A | CA343307160 | ITLN1 | c.344G>T (p.Gly115Val) n.278G>T | |
| 1 | g.160882018C>G | CA343307161 | ITLN1 | c.344G>C (p.Gly115Ala) n.278G>C | |
| 1 | g.160882018C>T | CA343307162 | ITLN1 | c.344G>A (p.Gly115Asp) n.278G>A | gnomAD v4 |
| 1 | g.160882019C>A | CA343307163 | ITLN1 | c.343G>T (p.Gly115Cys) n.277G>T | gnomAD v4 |
| 1 | g.160882019C= | CA1202506327 | ITLN1 | c.343G= (p.Gly115=) n.277G= | |
| 1 | g.160882019C>G | CA343307164 | ITLN1 | c.343G>C (p.Gly115Arg) n.277G>C | |
| 1 | g.160882019C>T | CA343307165 | ITLN1 | c.343G>A (p.Gly115Ser) n.277G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160882020G>A | CA1202685 | ITLN1 | c.342C>T (p.Asp114=) n.276C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160882020G>C | CA343307166 | ITLN1 | c.342C>G (p.Asp114Glu) n.276C>G | |
| 1 | g.160882020G= | CA1142039696 | ITLN1 | c.342C= (p.Asp114=) n.276C= | |
| 1 | g.160882020G>T | CA343307167 | ITLN1 | c.342C>A (p.Asp114Glu) n.276C>A | |
| 1 | g.160882021T>A | CA343307168 | ITLN1 | c.341A>T (p.Asp114Val) n.275A>T | gnomAD v4 |
| 1 | g.160882021T>C | CA343307169 | ITLN1 | c.341A>G (p.Asp114Gly) n.275A>G | |
| 1 | g.160882021T>G | CA343307170 | ITLN1 | c.341A>C (p.Asp114Ala) n.275A>C | |
| 1 | g.160882022C>A | CA343307172 | ITLN1 | c.340G>T (p.Asp114Tyr) n.274G>T | |
| 1 | g.160882022C= | CA1143891360 | ITLN1 | c.340G= (p.Asp114=) n.274G= | |
| 1 | g.160882022C>G | CA343307171 | ITLN1 | c.340G>C (p.Asp114His) n.274G>C | |
| 1 | g.160882022C>T | CA1202686 | ITLN1 | c.340G>A (p.Asp114Asn) n.274G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160882023C>A | CA421605000 | ITLN1 | c.339G>T (p.Gly113=) n.273G>T | |
| 1 | g.160882023C>G | CA421605001 | ITLN1 | c.339G>C (p.Gly113=) n.273G>C | |
| 1 | g.160882023C>T | CA421605004 | ITLN1 | c.339G>A (p.Gly113=) n.273G>A | |
| 1 | g.160882024C>A | CA343307175 | ITLN1 | c.338G>T (p.Gly113Val) n.272G>T | |
| 1 | g.160882024C= | CA1202506328 | ITLN1 | c.338G= (p.Gly113=) n.272G= | |
| 1 | g.160882024C>G | CA343307173 | ITLN1 | c.338G>C (p.Gly113Ala) n.272G>C | gnomAD v4 |
| 1 | g.160882024C>T | CA343307174 | ITLN1 | c.338G>A (p.Gly113Glu) n.272G>A | dbSNP |
| 1 | g.160882024_160882025delinsTT | CA645528094 | ITLN1 | c.337_338delinsAA (p.Gly113Lys) n.271_272delinsAA | COSMIC |
| 1 | g.160882025C>A | CA343307176 | ITLN1 | c.337G>T (p.Gly113Trp) n.271G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160882025C= | CA1144089617 | ITLN1 | c.337G= (p.Gly113=) n.271G= | |
| 1 | g.160882025C>G | CA1202687 | ITLN1 | c.337G>C (p.Gly113Arg) n.271G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160882025C>T | CA343307177 | ITLN1 | c.337G>A (p.Gly113Arg) n.271G>A | |
| 1 | g.160882026C>A | CA343307178 | ITLN1 | c.336G>T (p.Glu112Asp) n.270G>T | |
| 1 | g.160882026C= | CA1202506329 | ITLN1 | c.336G= (p.Glu112=) n.270G= | |
| 1 | g.160882026C>G | CA31617272 | ITLN1 | c.336G>C (p.Glu112Asp) n.270G>C | dbSNP |
| 1 | g.160882026C>T | CA1202688 | ITLN1 | c.336G>A (p.Glu112=) n.270G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160882027T>A | CA343307179 | ITLN1 | c.335A>T (p.Glu112Val) n.269A>T | |
| 1 | g.160882027T>C | CA343307180 | ITLN1 | c.335A>G (p.Glu112Gly) n.269A>G | |
| 1 | g.160882027T>G | CA343307181 | ITLN1 | c.335A>C (p.Glu112Ala) n.269A>C | |
| 1 | g.160882028C>A | CA343307182 | ITLN1 | c.334G>T (p.Glu112Ter) n.268G>T | |
| 1 | g.160882028C>G | CA343307183 | ITLN1 | c.334G>C (p.Glu112Gln) n.268G>C | |
| 1 | g.160882028C>T | CA343307184 | ITLN1 | c.334G>A (p.Glu112Lys) n.268G>A | |
| 1 | g.160882029T>A | CA421605007 | ITLN1 | c.333A>T (p.Pro111=) n.267A>T | |
| 1 | g.160882029T>C | CA421605008 | ITLN1 | c.333A>G (p.Pro111=) n.267A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160882029T>G | CA421605009 | ITLN1 | c.333A>C (p.Pro111=) n.267A>C | |
| 1 | g.160882029T= | CA1202506330 | ITLN1 | c.333A= (p.Pro111=) n.267A= | |
| 1 | g.160882030G>A | CA343307185 | ITLN1 | c.332C>T (p.Pro111Leu) n.266C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160882030G>C | CA343307187 | ITLN1 | c.332C>G (p.Pro111Arg) n.266C>G | |
| 1 | g.160882030G= | CA1202506331 | ITLN1 | c.332C= (p.Pro111=) n.266C= | |
| 1 | g.160882030G>T | CA343307186 | ITLN1 | c.332C>A (p.Pro111Gln) n.266C>A | |
| 1 | g.160882032del | CA2746359222 | ITLN1 | c.332del (p.Pro111GlnfsTer?) n.266del | |
| 1 | g.160882031G>A | CA343307188 | ITLN1 | c.331C>T (p.Pro111Ser) n.265C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.160882031G>C | CA343307189 | ITLN1 | c.331C>G (p.Pro111Ala) n.265C>G | |
| 1 | g.160882031G= | CA1202506332 | ITLN1 | c.331C= (p.Pro111=) n.265C= | |
| 1 | g.160882031G>T | CA343307190 | ITLN1 | c.331C>A (p.Pro111Thr) n.265C>A | gnomAD v4 |
| 1 | g.160882032G>A | CA1202689 | ITLN1 | c.330C>T (p.Tyr110=) n.264C>T | dbSNP ExAC |
| 1 | g.160882032G>C | CA343307191 | ITLN1 | c.330C>G (p.Tyr110Ter) n.264C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160882032G= | CA1148282495 | ITLN1 | c.330C= (p.Tyr110=) n.264C= | |
| 1 | g.160882032G>T | CA343307192 | ITLN1 | c.330C>A (p.Tyr110Ter) n.264C>A | |
| 1 | g.160882033T>A | CA343307193 | ITLN1 | c.329A>T (p.Tyr110Phe) n.263A>T | |
| 1 | g.160882033T>C | CA343307194 | ITLN1 | c.329A>G (p.Tyr110Cys) n.263A>G | |
| 1 | g.160882033T>G | CA343307195 | ITLN1 | c.329A>C (p.Tyr110Ser) n.263A>C | |
| 1 | g.160882034A>C | CA343307196 | ITLN1 | c.328T>G (p.Tyr110Asp) n.262T>G | |
| 1 | g.160882034A>G | CA343307197 | ITLN1 | c.328T>C (p.Tyr110His) n.262T>C | |
| 1 | g.160882034A>T | CA343307198 | ITLN1 | c.328T>A (p.Tyr110Asn) n.262T>A | |
| 1 | g.160882035G>A | CA421605013 | ITLN1 | c.327C>T (p.Val109=) n.261C>T | |
| 1 | g.160882035G>C | CA31617284 | ITLN1 | c.327C>G (p.Val109=) n.261C>G | dbSNP |
| 1 | g.160882035G= | CA1202506333 | ITLN1 | c.327C= (p.Val109=) n.261C= | |
| 1 | g.160882035G>T | CA421605014 | ITLN1 | c.327C>A (p.Val109=) n.261C>A | |
| 1 | g.160882036A= | CA1139925872 | ITLN1 | c.326T= (p.Val109=) n.260T= | |
| 1 | g.160882036A>C | CA343307199 | ITLN1 | c.326T>G (p.Val109Gly) n.260T>G | |
| 1 | g.160882036A>G | CA343307200 | ITLN1 | c.326T>C (p.Val109Ala) n.260T>C | dbSNP |
| 1 | g.160882036A>T | CA1202690 | ITLN1 | c.326T>A (p.Val109Asp) n.260T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160882037C>A | CA343307201 | ITLN1 | c.325G>T (p.Val109Phe) n.259G>T | |
| 1 | g.160882037C>G | CA343307202 | ITLN1 | c.325G>C (p.Val109Leu) n.259G>C | |
| 1 | g.160882037C>T | CA343307203 | ITLN1 | c.325G>A (p.Val109Ile) n.259G>A | COSMIC |
| 1 | g.160882038T>A | CA421605018 | ITLN1 | c.324A>T (p.Ala108=) n.258A>T | |
| 1 | g.160882038T>C | CA421605019 | ITLN1 | c.324A>G (p.Ala108=) n.258A>G | |
| 1 | g.160882038T>G | CA1202691 | ITLN1 | c.324A>C (p.Ala108=) n.258A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160882038T= | CA1202506334 | ITLN1 | c.324A= (p.Ala108=) n.258A= | |
| 1 | g.160882039G>A | CA343307204 | ITLN1 | c.323C>T (p.Ala108Val) n.257C>T | |
| 1 | g.160882039G>C | CA343307205 | ITLN1 | c.323C>G (p.Ala108Gly) n.257C>G | |
| 1 | g.160882039G>T | CA343307206 | ITLN1 | c.323C>A (p.Ala108Glu) n.257C>A | |
| 1 | g.160882040C>A | CA343307208 | ITLN1 | c.322G>T (p.Ala108Ser) n.256G>T | |
| 1 | g.160882040C= | CA1202506335 | ITLN1 | c.322G= (p.Ala108=) n.256G= | |
| 1 | g.160882040C>G | CA343307207 | ITLN1 | c.322G>C (p.Ala108Pro) n.256G>C | |
| 1 | g.160882040C>T | CA31617324 | ITLN1 | c.322G>A (p.Ala108Thr) n.256G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160882041T>A | CA343307209 | ITLN1 | c.321A>T (p.Lys107Asn) n.255A>T | |
| 1 | g.160882041T>C | CA421605024 | ITLN1 | c.321A>G (p.Lys107=) n.255A>G | |
| 1 | g.160882041T>G | CA1202692 | ITLN1 | c.321A>C (p.Lys107Asn) n.255A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160882041T= | CA1148414411 | ITLN1 | c.321A= (p.Lys107=) n.255A= | |
| 1 | g.160882042T>A | CA343307210 | ITLN1 | c.320A>T (p.Lys107Ile) n.254A>T | |
| 1 | g.160882042T>C | CA343307211 | ITLN1 | c.320A>G (p.Lys107Arg) n.254A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160882042T>G | CA343307212 | ITLN1 | c.320A>C (p.Lys107Thr) n.254A>C | |
| 1 | g.160882042T= | CA1202506336 | ITLN1 | c.320A= (p.Lys107=) n.254A= | |
| 1 | g.160882043T>A | CA343307213 | ITLN1 | c.319A>T (p.Lys107Ter) n.253A>T | gnomAD v4 |
| 1 | g.160882043T>C | CA343307215 | ITLN1 | c.319A>G (p.Lys107Glu) n.253A>G | gnomAD v4 |
| 1 | g.160882043T>G | CA343307214 | ITLN1 | c.319A>C (p.Lys107Gln) n.253A>C | |
| 1 | g.160882044G>A | CA421605031 | ITLN1 | c.318C>T (p.Ser106=) n.252C>T | |
| 1 | g.160882044G>C | CA343307216 | ITLN1 | c.318C>G (p.Ser106Arg) n.252C>G | |
| 1 | g.160882044G>T | CA343307217 | ITLN1 | c.318C>A (p.Ser106Arg) n.252C>A | |
| 1 | g.160882045C>A | CA343307218 | ITLN1 | c.317G>T (p.Ser106Ile) n.251G>T | |
| 1 | g.160882045C= | CA1202506337 | ITLN1 | c.317G= (p.Ser106=) n.251G= | |
| 1 | g.160882045C>G | CA343307219 | ITLN1 | c.317G>C (p.Ser106Thr) n.251G>C | |
| 1 | g.160882045C>T | CA1202693 | ITLN1 | c.317G>A (p.Ser106Asn) n.251G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160882046T>A | CA343307220 | ITLN1 | c.316A>T (p.Ser106Cys) n.250A>T | |
| 1 | g.160882046T>C | CA343307221 | ITLN1 | c.316A>G (p.Ser106Gly) n.250A>G | |
| 1 | g.160882046T>G | CA343307222 | ITLN1 | c.316A>C (p.Ser106Arg) n.250A>C | dbSNP |
| 1 | g.160882047G>A | CA421605037 | ITLN1 | c.315C>T (p.Gly105=) n.249C>T | |
| 1 | g.160882047G>C | CA421605039 | ITLN1 | c.315C>G (p.Gly105=) n.249C>G | |
| 1 | g.160882047G>T | CA421605040 | ITLN1 | c.315C>A (p.Gly105=) n.249C>A | |
| 1 | g.160882047_160882048delinsGC | CA1202506338 | ITLN1 | c.314_315delinsGC (p.Gly105=) n.248_249delinsGC | |
| 1 | g.160882048C>A | CA343307223 | ITLN1 | c.314G>T (p.Gly105Val) n.248G>T | |
| 1 | g.160882048C>G | CA343307224 | ITLN1 | c.314G>C (p.Gly105Ala) n.248G>C | |
| 1 | g.160882048C>T | CA343307225 | ITLN1 | c.314G>A (p.Gly105Asp) n.248G>A | COSMIC |
| 1 | g.160882050del | CA527133902 | ITLN1 | c.314del (p.Gly105AlafsTer?) n.248del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160882049C>A | CA343307226 | ITLN1 | c.313G>T (p.Gly105Cys) n.247G>T | |
| 1 | g.160882049C>G | CA343307228 | ITLN1 | c.313G>C (p.Gly105Arg) n.247G>C | |
| 1 | g.160882049C>T | CA343307227 | ITLN1 | c.313G>A (p.Gly105Ser) n.247G>A | |
| 1 | g.160882050C>A | CA343307229 | ITLN1 | c.312G>T (p.Gln104His) n.246G>T | |
| 1 | g.160882050C= | CA1202506339 | ITLN1 | c.312G= (p.Gln104=) n.246G= | |
| 1 | g.160882050C>G | CA343307230 | ITLN1 | c.312G>C (p.Gln104His) n.246G>C | dbSNP |
| 1 | g.160882050C>T | CA421605042 | ITLN1 | c.312G>A (p.Gln104=) n.246G>A | |
| 1 | g.160882051T>A | CA343307231 | ITLN1 | c.311A>T (p.Gln104Leu) n.245A>T | |
| 1 | g.160882051T>C | CA343307232 | ITLN1 | c.311A>G (p.Gln104Arg) n.245A>G | |
| 1 | g.160882051T>G | CA343307233 | ITLN1 | c.311A>C (p.Gln104Pro) n.245A>C | |
| 1 | g.160882052G>A | CA343307234 | ITLN1 | c.310C>T (p.Gln104Ter) n.244C>T | |
| 1 | g.160882052G>C | CA343307235 | ITLN1 | c.310C>G (p.Gln104Glu) n.244C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160882052G= | CA1202506340 | ITLN1 | c.310C= (p.Gln104=) n.244C= | |
| 1 | g.160882052G>T | CA343307236 | ITLN1 | c.310C>A (p.Gln104Lys) n.244C>A | |
| 1 | g.160882053C>A | CA343307237 | ITLN1 | c.309G>T (p.Gln103His) n.243G>T | |
| 1 | g.160882053C>G | CA343307238 | ITLN1 | c.309G>C (p.Gln103His) n.243G>C | |
| 1 | g.160882053C>T | CA421605050 | ITLN1 | c.309G>A (p.Gln103=) n.243G>A | |
| 1 | g.160882054T>A | CA343307239 | ITLN1 | c.308A>T (p.Gln103Leu) n.242A>T | COSMIC |
| 1 | g.160882054T>C | CA343307240 | ITLN1 | c.308A>G (p.Gln103Arg) n.242A>G | |
| 1 | g.160882054T>G | CA343307241 | ITLN1 | c.308A>C (p.Gln103Pro) n.242A>C | |
| 1 | g.160882055G>A | CA343307242 | ITLN1 | c.307C>T (p.Gln103Ter) n.241C>T | |
| 1 | g.160882055G>C | CA343307244 | ITLN1 | c.307C>G (p.Gln103Glu) n.241C>G | |
| 1 | g.160882055G>T | CA343307243 | ITLN1 | c.307C>A (p.Gln103Lys) n.241C>A | |
| 1 | g.160882056A>C | CA343307245 | ITLN1 | c.306T>G (p.Ser102Arg) n.240T>G | |
| 1 | g.160882056A>G | CA421605055 | ITLN1 | c.306T>C (p.Ser102=) n.240T>C | gnomAD v4 |
| 1 | g.160882056A>T | CA343307246 | ITLN1 | c.306T>A (p.Ser102Arg) n.240T>A | |
| 1 | g.160882057C>A | CA343307247 | ITLN1 | c.305G>T (p.Ser102Ile) n.239G>T | |
| 1 | g.160882057C>G | CA343307248 | ITLN1 | c.305G>C (p.Ser102Thr) n.239G>C | |
| 1 | g.160882057C>T | CA343307249 | ITLN1 | c.305G>A (p.Ser102Asn) n.239G>A | |
| 1 | g.160882058T>A | CA343307250 | ITLN1 | c.304A>T (p.Ser102Cys) n.238A>T | |
| 1 | g.160882058T>C | CA1202694 | ITLN1 | c.304A>G (p.Ser102Gly) n.238A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160882058T>G | CA343307251 | ITLN1 | c.304A>C (p.Ser102Arg) n.238A>C | |
| 1 | g.160882058T= | CA1141645033 | ITLN1 | c.304A= (p.Ser102=) n.238A= | |
| 1 | g.160882059G>A | CA421605059 | ITLN1 | c.303C>T (p.Ser101=) n.237C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160882059G>C | CA421605061 | ITLN1 | c.303C>G (p.Ser101=) n.237C>G | |
| 1 | g.160882059G= | CA1202506341 | ITLN1 | c.303C= (p.Ser101=) n.237C= | |
| 1 | g.160882059G>T | CA421605062 | ITLN1 | c.303C>A (p.Ser101=) n.237C>A |