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 |
|---|---|---|---|---|---|
| 9 | g.74773801_74783660del | CA645509430 | TRPM6 | c.2920-806_3404-1965del c.2905-806_3389-1965del c.2827-806_3311-1965del c.2791-806_3275-1965del c.2779-806_3263-1965del c.2686-806_3170-1965del c.2644-806_3128-1965del c.2191-806_2675-1965del c.853-806_1337-1965del n.3158-806_3642-1965del n.3158-806_3527-1965del c.2557-806_3041-1965del c.2410-806_2894-1965del | ClinVar |
| 9 | g.74782396_74782404del | CA2784658902 | TRPM6 | c.3168_3176del (p.Gln1057_Ile1059del) c.3153_3161del (p.Gln1052_Ile1054del) c.3075_3083del (p.Gln1026_Ile1028del) c.3039_3047del (p.Gln1014_Ile1016del) c.3027_3035del (p.Gln1010_Ile1012del) c.2934_2942del (p.Gln979_Ile981del) c.2892_2900del (p.Gln965_Ile967del) c.2439_2447del (p.Gln814_Ile816del) c.1101_1109del (p.Gln368_Ile370del) n.3406_3414del n.3332+276_3332+284del c.2805_2813del (p.Gln936_Ile938del) c.2658_2666del (p.Gln887_Ile889del) | |
| 9 | g.74782398T>A | CA373670583 | TRPM6 | c.3173A>T (p.Tyr1058Phe) c.3158A>T (p.Tyr1053Phe) c.3080A>T (p.Tyr1027Phe) c.3044A>T (p.Tyr1015Phe) c.3032A>T (p.Tyr1011Phe) c.2939A>T (p.Tyr980Phe) c.2897A>T (p.Tyr966Phe) c.2444A>T (p.Tyr815Phe) c.1106A>T (p.Tyr369Phe) n.3411A>T n.3332+281A>T c.2810A>T (p.Tyr937Phe) c.2663A>T (p.Tyr888Phe) | |
| 9 | g.74782398T>C | CA206486 | TRPM6 | c.3173A>G (p.Tyr1058Cys) c.3158A>G (p.Tyr1053Cys) c.3080A>G (p.Tyr1027Cys) c.3044A>G (p.Tyr1015Cys) c.3032A>G (p.Tyr1011Cys) c.2939A>G (p.Tyr980Cys) c.2897A>G (p.Tyr966Cys) c.2444A>G (p.Tyr815Cys) c.1106A>G (p.Tyr369Cys) n.3411A>G n.3332+281A>G c.2810A>G (p.Tyr937Cys) c.2663A>G (p.Tyr888Cys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.74782398T>G | CA373670588 | TRPM6 | c.3173A>C (p.Tyr1058Ser) c.3158A>C (p.Tyr1053Ser) c.3080A>C (p.Tyr1027Ser) c.3044A>C (p.Tyr1015Ser) c.3032A>C (p.Tyr1011Ser) c.2939A>C (p.Tyr980Ser) c.2897A>C (p.Tyr966Ser) c.2444A>C (p.Tyr815Ser) c.1106A>C (p.Tyr369Ser) n.3411A>C n.3332+281A>C c.2810A>C (p.Tyr937Ser) c.2663A>C (p.Tyr888Ser) | |
| 9 | g.74782398T= | CA1856036742 | TRPM6 | c.3173A= (p.Tyr1058=) c.3158A= (p.Tyr1053=) c.3080A= (p.Tyr1027=) c.3044A= (p.Tyr1015=) c.3032A= (p.Tyr1011=) c.2939A= (p.Tyr980=) c.2897A= (p.Tyr966=) c.2444A= (p.Tyr815=) c.1106A= (p.Tyr369=) n.3411A= n.3332+281A= c.2810A= (p.Tyr937=) c.2663A= (p.Tyr888=) | |
| 9 | g.74782399A>C | CA373670593 | TRPM6 | c.3172T>G (p.Tyr1058Asp) c.3157T>G (p.Tyr1053Asp) c.3079T>G (p.Tyr1027Asp) c.3043T>G (p.Tyr1015Asp) c.3031T>G (p.Tyr1011Asp) c.2938T>G (p.Tyr980Asp) c.2896T>G (p.Tyr966Asp) c.2443T>G (p.Tyr815Asp) c.1105T>G (p.Tyr369Asp) n.3410T>G n.3332+280T>G c.2809T>G (p.Tyr937Asp) c.2662T>G (p.Tyr888Asp) | |
| 9 | g.74782399A>G | CA373670594 | TRPM6 | c.3172T>C (p.Tyr1058His) c.3157T>C (p.Tyr1053His) c.3079T>C (p.Tyr1027His) c.3043T>C (p.Tyr1015His) c.3031T>C (p.Tyr1011His) c.2938T>C (p.Tyr980His) c.2896T>C (p.Tyr966His) c.2443T>C (p.Tyr815His) c.1105T>C (p.Tyr369His) n.3410T>C n.3332+280T>C c.2809T>C (p.Tyr937His) c.2662T>C (p.Tyr888His) | |
| 9 | g.74782399A>T | CA373670596 | TRPM6 | c.3172T>A (p.Tyr1058Asn) c.3157T>A (p.Tyr1053Asn) c.3079T>A (p.Tyr1027Asn) c.3043T>A (p.Tyr1015Asn) c.3031T>A (p.Tyr1011Asn) c.2938T>A (p.Tyr980Asn) c.2896T>A (p.Tyr966Asn) c.2443T>A (p.Tyr815Asn) c.1105T>A (p.Tyr369Asn) n.3410T>A n.3332+280T>A c.2809T>A (p.Tyr937Asn) c.2662T>A (p.Tyr888Asn) | |
| 9 | g.74782400T>A | CA373670599 | TRPM6 | c.3171A>T (p.Gln1057His) c.3156A>T (p.Gln1052His) c.3078A>T (p.Gln1026His) c.3042A>T (p.Gln1014His) c.3030A>T (p.Gln1010His) c.2937A>T (p.Gln979His) c.2895A>T (p.Gln965His) c.2442A>T (p.Gln814His) c.1104A>T (p.Gln368His) n.3409A>T n.3332+279A>T c.2808A>T (p.Gln936His) c.2661A>T (p.Gln887His) | gnomAD v4 |
| 9 | g.74782400T>C | CA465505268 | TRPM6 | c.3171A>G (p.Gln1057=) c.3156A>G (p.Gln1052=) c.3078A>G (p.Gln1026=) c.3042A>G (p.Gln1014=) c.3030A>G (p.Gln1010=) c.2937A>G (p.Gln979=) c.2895A>G (p.Gln965=) c.2442A>G (p.Gln814=) c.1104A>G (p.Gln368=) n.3409A>G n.3332+279A>G c.2808A>G (p.Gln936=) c.2661A>G (p.Gln887=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.74782400T>G | CA373670598 | TRPM6 | c.3171A>C (p.Gln1057His) c.3156A>C (p.Gln1052His) c.3078A>C (p.Gln1026His) c.3042A>C (p.Gln1014His) c.3030A>C (p.Gln1010His) c.2937A>C (p.Gln979His) c.2895A>C (p.Gln965His) c.2442A>C (p.Gln814His) c.1104A>C (p.Gln368His) n.3409A>C n.3332+279A>C c.2808A>C (p.Gln936His) c.2661A>C (p.Gln887His) | |
| 9 | g.74782400T= | CA1856036743 | TRPM6 | c.3171A= (p.Gln1057=) c.3156A= (p.Gln1052=) c.3078A= (p.Gln1026=) c.3042A= (p.Gln1014=) c.3030A= (p.Gln1010=) c.2937A= (p.Gln979=) c.2895A= (p.Gln965=) c.2442A= (p.Gln814=) c.1104A= (p.Gln368=) n.3409A= n.3332+279A= c.2808A= (p.Gln936=) c.2661A= (p.Gln887=) | |
| 9 | g.74782401T>A | CA373670601 | TRPM6 | c.3170A>T (p.Gln1057Leu) c.3155A>T (p.Gln1052Leu) c.3077A>T (p.Gln1026Leu) c.3041A>T (p.Gln1014Leu) c.3029A>T (p.Gln1010Leu) c.2936A>T (p.Gln979Leu) c.2894A>T (p.Gln965Leu) c.2441A>T (p.Gln814Leu) c.1103A>T (p.Gln368Leu) n.3408A>T n.3332+278A>T c.2807A>T (p.Gln936Leu) c.2660A>T (p.Gln887Leu) | |
| 9 | g.74782401T>C | CA5084360 | TRPM6 | c.3170A>G (p.Gln1057Arg) c.3155A>G (p.Gln1052Arg) c.3077A>G (p.Gln1026Arg) c.3041A>G (p.Gln1014Arg) c.3029A>G (p.Gln1010Arg) c.2936A>G (p.Gln979Arg) c.2894A>G (p.Gln965Arg) c.2441A>G (p.Gln814Arg) c.1103A>G (p.Gln368Arg) n.3408A>G n.3332+278A>G c.2807A>G (p.Gln936Arg) c.2660A>G (p.Gln887Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.74782401T>G | CA373670603 | TRPM6 | c.3170A>C (p.Gln1057Pro) c.3155A>C (p.Gln1052Pro) c.3077A>C (p.Gln1026Pro) c.3041A>C (p.Gln1014Pro) c.3029A>C (p.Gln1010Pro) c.2936A>C (p.Gln979Pro) c.2894A>C (p.Gln965Pro) c.2441A>C (p.Gln814Pro) c.1103A>C (p.Gln368Pro) n.3408A>C n.3332+278A>C c.2807A>C (p.Gln936Pro) c.2660A>C (p.Gln887Pro) | |
| 9 | g.74782401T= | CA1856036744 | TRPM6 | c.3170A= (p.Gln1057=) c.3155A= (p.Gln1052=) c.3077A= (p.Gln1026=) c.3041A= (p.Gln1014=) c.3029A= (p.Gln1010=) c.2936A= (p.Gln979=) c.2894A= (p.Gln965=) c.2441A= (p.Gln814=) c.1103A= (p.Gln368=) n.3408A= n.3332+278A= c.2807A= (p.Gln936=) c.2660A= (p.Gln887=) | |
| 9 | g.74782402G>A | CA373670605 | TRPM6 | c.3169C>T (p.Gln1057Ter) c.3154C>T (p.Gln1052Ter) c.3076C>T (p.Gln1026Ter) c.3040C>T (p.Gln1014Ter) c.3028C>T (p.Gln1010Ter) c.2935C>T (p.Gln979Ter) c.2893C>T (p.Gln965Ter) c.2440C>T (p.Gln814Ter) c.1102C>T (p.Gln368Ter) n.3407C>T n.3332+277C>T c.2806C>T (p.Gln936Ter) c.2659C>T (p.Gln887Ter) | |
| 9 | g.74782402G>C | CA373670608 | TRPM6 | c.3169C>G (p.Gln1057Glu) c.3154C>G (p.Gln1052Glu) c.3076C>G (p.Gln1026Glu) c.3040C>G (p.Gln1014Glu) c.3028C>G (p.Gln1010Glu) c.2935C>G (p.Gln979Glu) c.2893C>G (p.Gln965Glu) c.2440C>G (p.Gln814Glu) c.1102C>G (p.Gln368Glu) n.3407C>G n.3332+277C>G c.2806C>G (p.Gln936Glu) c.2659C>G (p.Gln887Glu) | |
| 9 | g.74782402G>T | CA373670609 | TRPM6 | c.3169C>A (p.Gln1057Lys) c.3154C>A (p.Gln1052Lys) c.3076C>A (p.Gln1026Lys) c.3040C>A (p.Gln1014Lys) c.3028C>A (p.Gln1010Lys) c.2935C>A (p.Gln979Lys) c.2893C>A (p.Gln965Lys) c.2440C>A (p.Gln814Lys) c.1102C>A (p.Gln368Lys) n.3407C>A n.3332+277C>A c.2806C>A (p.Gln936Lys) c.2659C>A (p.Gln887Lys) | |
| 9 | g.74782403C>A | CA465505271 | TRPM6 | c.3168G>T (p.Val1056=) c.3153G>T (p.Val1051=) c.3075G>T (p.Val1025=) c.3039G>T (p.Val1013=) c.3027G>T (p.Val1009=) c.2934G>T (p.Val978=) c.2892G>T (p.Val964=) c.2439G>T (p.Val813=) c.1101G>T (p.Val367=) n.3406G>T n.3332+276G>T c.2805G>T (p.Val935=) c.2658G>T (p.Val886=) | |
| 9 | g.74782403C= | CA1856036745 | TRPM6 | c.3168G= (p.Val1056=) c.3153G= (p.Val1051=) c.3075G= (p.Val1025=) c.3039G= (p.Val1013=) c.3027G= (p.Val1009=) c.2934G= (p.Val978=) c.2892G= (p.Val964=) c.2439G= (p.Val813=) c.1101G= (p.Val367=) n.3406G= n.3332+276G= c.2805G= (p.Val935=) c.2658G= (p.Val886=) | |
| 9 | g.74782403C>G | CA465505272 | TRPM6 | c.3168G>C (p.Val1056=) c.3153G>C (p.Val1051=) c.3075G>C (p.Val1025=) c.3039G>C (p.Val1013=) c.3027G>C (p.Val1009=) c.2934G>C (p.Val978=) c.2892G>C (p.Val964=) c.2439G>C (p.Val813=) c.1101G>C (p.Val367=) n.3406G>C n.3332+276G>C c.2805G>C (p.Val935=) c.2658G>C (p.Val886=) | |
| 9 | g.74782403C>T | CA465505273 | TRPM6 | c.3168G>A (p.Val1056=) c.3153G>A (p.Val1051=) c.3075G>A (p.Val1025=) c.3039G>A (p.Val1013=) c.3027G>A (p.Val1009=) c.2934G>A (p.Val978=) c.2892G>A (p.Val964=) c.2439G>A (p.Val813=) c.1101G>A (p.Val367=) n.3406G>A n.3332+276G>A c.2805G>A (p.Val935=) c.2658G>A (p.Val886=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.74782404A>C | CA373670612 | TRPM6 | c.3167T>G (p.Val1056Gly) c.3152T>G (p.Val1051Gly) c.3074T>G (p.Val1025Gly) c.3038T>G (p.Val1013Gly) c.3026T>G (p.Val1009Gly) c.2933T>G (p.Val978Gly) c.2891T>G (p.Val964Gly) c.2438T>G (p.Val813Gly) c.1100T>G (p.Val367Gly) n.3405T>G n.3332+275T>G c.2804T>G (p.Val935Gly) c.2657T>G (p.Val886Gly) | |
| 9 | g.74782404A>G | CA373670615 | TRPM6 | c.3167T>C (p.Val1056Ala) c.3152T>C (p.Val1051Ala) c.3074T>C (p.Val1025Ala) c.3038T>C (p.Val1013Ala) c.3026T>C (p.Val1009Ala) c.2933T>C (p.Val978Ala) c.2891T>C (p.Val964Ala) c.2438T>C (p.Val813Ala) c.1100T>C (p.Val367Ala) n.3405T>C n.3332+275T>C c.2804T>C (p.Val935Ala) c.2657T>C (p.Val886Ala) | |
| 9 | g.74782404A>T | CA373670613 | TRPM6 | c.3167T>A (p.Val1056Glu) c.3152T>A (p.Val1051Glu) c.3074T>A (p.Val1025Glu) c.3038T>A (p.Val1013Glu) c.3026T>A (p.Val1009Glu) c.2933T>A (p.Val978Glu) c.2891T>A (p.Val964Glu) c.2438T>A (p.Val813Glu) c.1100T>A (p.Val367Glu) n.3405T>A n.3332+275T>A c.2804T>A (p.Val935Glu) c.2657T>A (p.Val886Glu) | |
| 9 | g.74782405C>A | CA373670619 | TRPM6 | c.3166G>T (p.Val1056Leu) c.3151G>T (p.Val1051Leu) c.3073G>T (p.Val1025Leu) c.3037G>T (p.Val1013Leu) c.3025G>T (p.Val1009Leu) c.2932G>T (p.Val978Leu) c.2890G>T (p.Val964Leu) c.2437G>T (p.Val813Leu) c.1099G>T (p.Val367Leu) n.3404G>T n.3332+274G>T c.2803G>T (p.Val935Leu) c.2656G>T (p.Val886Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.74782405C= | CA1856036746 | TRPM6 | c.3166G= (p.Val1056=) c.3151G= (p.Val1051=) c.3073G= (p.Val1025=) c.3037G= (p.Val1013=) c.3025G= (p.Val1009=) c.2932G= (p.Val978=) c.2890G= (p.Val964=) c.2437G= (p.Val813=) c.1099G= (p.Val367=) n.3404G= n.3332+274G= c.2803G= (p.Val935=) c.2656G= (p.Val886=) | |
| 9 | g.74782405C>G | CA373670620 | TRPM6 | c.3166G>C (p.Val1056Leu) c.3151G>C (p.Val1051Leu) c.3073G>C (p.Val1025Leu) c.3037G>C (p.Val1013Leu) c.3025G>C (p.Val1009Leu) c.2932G>C (p.Val978Leu) c.2890G>C (p.Val964Leu) c.2437G>C (p.Val813Leu) c.1099G>C (p.Val367Leu) n.3404G>C n.3332+274G>C c.2803G>C (p.Val935Leu) c.2656G>C (p.Val886Leu) | |
| 9 | g.74782405C>T | CA373670621 | TRPM6 | c.3166G>A (p.Val1056Met) c.3151G>A (p.Val1051Met) c.3073G>A (p.Val1025Met) c.3037G>A (p.Val1013Met) c.3025G>A (p.Val1009Met) c.2932G>A (p.Val978Met) c.2890G>A (p.Val964Met) c.2437G>A (p.Val813Met) c.1099G>A (p.Val367Met) n.3404G>A n.3332+274G>A c.2803G>A (p.Val935Met) c.2656G>A (p.Val886Met) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.74782406G>A | CA5084361 | TRPM6 | c.3165C>T (p.Phe1055=) c.3150C>T (p.Phe1050=) c.3072C>T (p.Phe1024=) c.3036C>T (p.Phe1012=) c.3024C>T (p.Phe1008=) c.2931C>T (p.Phe977=) c.2889C>T (p.Phe963=) c.2436C>T (p.Phe812=) c.1098C>T (p.Phe366=) n.3403C>T n.3332+273C>T c.2802C>T (p.Phe934=) c.2655C>T (p.Phe885=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.74782406G>C | CA373670623 | TRPM6 | c.3165C>G (p.Phe1055Leu) c.3150C>G (p.Phe1050Leu) c.3072C>G (p.Phe1024Leu) c.3036C>G (p.Phe1012Leu) c.3024C>G (p.Phe1008Leu) c.2931C>G (p.Phe977Leu) c.2889C>G (p.Phe963Leu) c.2436C>G (p.Phe812Leu) c.1098C>G (p.Phe366Leu) n.3403C>G n.3332+273C>G c.2802C>G (p.Phe934Leu) c.2655C>G (p.Phe885Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.74782406G= | CA1856036747 | TRPM6 | c.3165C= (p.Phe1055=) c.3150C= (p.Phe1050=) c.3072C= (p.Phe1024=) c.3036C= (p.Phe1012=) c.3024C= (p.Phe1008=) c.2931C= (p.Phe977=) c.2889C= (p.Phe963=) c.2436C= (p.Phe812=) c.1098C= (p.Phe366=) n.3403C= n.3332+273C= c.2802C= (p.Phe934=) c.2655C= (p.Phe885=) | |
| 9 | g.74782406G>T | CA373670625 | TRPM6 | c.3165C>A (p.Phe1055Leu) c.3150C>A (p.Phe1050Leu) c.3072C>A (p.Phe1024Leu) c.3036C>A (p.Phe1012Leu) c.3024C>A (p.Phe1008Leu) c.2931C>A (p.Phe977Leu) c.2889C>A (p.Phe963Leu) c.2436C>A (p.Phe812Leu) c.1098C>A (p.Phe366Leu) n.3403C>A n.3332+273C>A c.2802C>A (p.Phe934Leu) c.2655C>A (p.Phe885Leu) | |
| 9 | g.74782407A>C | CA373670627 | TRPM6 | c.3164T>G (p.Phe1055Cys) c.3149T>G (p.Phe1050Cys) c.3071T>G (p.Phe1024Cys) c.3035T>G (p.Phe1012Cys) c.3023T>G (p.Phe1008Cys) c.2930T>G (p.Phe977Cys) c.2888T>G (p.Phe963Cys) c.2435T>G (p.Phe812Cys) c.1097T>G (p.Phe366Cys) n.3402T>G n.3332+272T>G c.2801T>G (p.Phe934Cys) c.2654T>G (p.Phe885Cys) | |
| 9 | g.74782407A>G | CA373670630 | TRPM6 | c.3164T>C (p.Phe1055Ser) c.3149T>C (p.Phe1050Ser) c.3071T>C (p.Phe1024Ser) c.3035T>C (p.Phe1012Ser) c.3023T>C (p.Phe1008Ser) c.2930T>C (p.Phe977Ser) c.2888T>C (p.Phe963Ser) c.2435T>C (p.Phe812Ser) c.1097T>C (p.Phe366Ser) n.3402T>C n.3332+272T>C c.2801T>C (p.Phe934Ser) c.2654T>C (p.Phe885Ser) | |
| 9 | g.74782407A>T | CA373670631 | TRPM6 | c.3164T>A (p.Phe1055Tyr) c.3149T>A (p.Phe1050Tyr) c.3071T>A (p.Phe1024Tyr) c.3035T>A (p.Phe1012Tyr) c.3023T>A (p.Phe1008Tyr) c.2930T>A (p.Phe977Tyr) c.2888T>A (p.Phe963Tyr) c.2435T>A (p.Phe812Tyr) c.1097T>A (p.Phe366Tyr) n.3402T>A n.3332+272T>A c.2801T>A (p.Phe934Tyr) c.2654T>A (p.Phe885Tyr) | COSMIC COSMIC COSMIC COSMIC |
| 9 | g.74782408A>C | CA373670632 | TRPM6 | c.3163T>G (p.Phe1055Val) c.3148T>G (p.Phe1050Val) c.3070T>G (p.Phe1024Val) c.3034T>G (p.Phe1012Val) c.3022T>G (p.Phe1008Val) c.2929T>G (p.Phe977Val) c.2887T>G (p.Phe963Val) c.2434T>G (p.Phe812Val) c.1096T>G (p.Phe366Val) n.3401T>G n.3332+271T>G c.2800T>G (p.Phe934Val) c.2653T>G (p.Phe885Val) | |
| 9 | g.74782408A>G | CA373670633 | TRPM6 | c.3163T>C (p.Phe1055Leu) c.3148T>C (p.Phe1050Leu) c.3070T>C (p.Phe1024Leu) c.3034T>C (p.Phe1012Leu) c.3022T>C (p.Phe1008Leu) c.2929T>C (p.Phe977Leu) c.2887T>C (p.Phe963Leu) c.2434T>C (p.Phe812Leu) c.1096T>C (p.Phe366Leu) n.3401T>C n.3332+271T>C c.2800T>C (p.Phe934Leu) c.2653T>C (p.Phe885Leu) | COSMIC COSMIC COSMIC |
| 9 | g.74782408A>T | CA373670635 | TRPM6 | c.3163T>A (p.Phe1055Ile) c.3148T>A (p.Phe1050Ile) c.3070T>A (p.Phe1024Ile) c.3034T>A (p.Phe1012Ile) c.3022T>A (p.Phe1008Ile) c.2929T>A (p.Phe977Ile) c.2887T>A (p.Phe963Ile) c.2434T>A (p.Phe812Ile) c.1096T>A (p.Phe366Ile) n.3401T>A n.3332+271T>A c.2800T>A (p.Phe934Ile) c.2653T>A (p.Phe885Ile) | |
| 9 | g.74782409G>A | CA465505277 | TRPM6 | c.3162C>T (p.Leu1054=) c.3147C>T (p.Leu1049=) c.3069C>T (p.Leu1023=) c.3033C>T (p.Leu1011=) c.3021C>T (p.Leu1007=) c.2928C>T (p.Leu976=) c.2886C>T (p.Leu962=) c.2433C>T (p.Leu811=) c.1095C>T (p.Leu365=) n.3400C>T n.3332+270C>T c.2799C>T (p.Leu933=) c.2652C>T (p.Leu884=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.74782409G>C | CA465505278 | TRPM6 | c.3162C>G (p.Leu1054=) c.3147C>G (p.Leu1049=) c.3069C>G (p.Leu1023=) c.3033C>G (p.Leu1011=) c.3021C>G (p.Leu1007=) c.2928C>G (p.Leu976=) c.2886C>G (p.Leu962=) c.2433C>G (p.Leu811=) c.1095C>G (p.Leu365=) n.3400C>G n.3332+270C>G c.2799C>G (p.Leu933=) c.2652C>G (p.Leu884=) | gnomAD v4 |
| 9 | g.74782409G= | CA1856036748 | TRPM6 | c.3162C= (p.Leu1054=) c.3147C= (p.Leu1049=) c.3069C= (p.Leu1023=) c.3033C= (p.Leu1011=) c.3021C= (p.Leu1007=) c.2928C= (p.Leu976=) c.2886C= (p.Leu962=) c.2433C= (p.Leu811=) c.1095C= (p.Leu365=) n.3400C= n.3332+270C= c.2799C= (p.Leu933=) c.2652C= (p.Leu884=) | |
| 9 | g.74782409G>T | CA465505279 | TRPM6 | c.3162C>A (p.Leu1054=) c.3147C>A (p.Leu1049=) c.3069C>A (p.Leu1023=) c.3033C>A (p.Leu1011=) c.3021C>A (p.Leu1007=) c.2928C>A (p.Leu976=) c.2886C>A (p.Leu962=) c.2433C>A (p.Leu811=) c.1095C>A (p.Leu365=) n.3400C>A n.3332+270C>A c.2799C>A (p.Leu933=) c.2652C>A (p.Leu884=) | |
| 9 | g.74782410A>C | CA373670638 | TRPM6 | c.3161T>G (p.Leu1054Arg) c.3146T>G (p.Leu1049Arg) c.3068T>G (p.Leu1023Arg) c.3032T>G (p.Leu1011Arg) c.3020T>G (p.Leu1007Arg) c.2927T>G (p.Leu976Arg) c.2885T>G (p.Leu962Arg) c.2432T>G (p.Leu811Arg) c.1094T>G (p.Leu365Arg) n.3399T>G n.3332+269T>G c.2798T>G (p.Leu933Arg) c.2651T>G (p.Leu884Arg) | |
| 9 | g.74782410A>G | CA373670639 | TRPM6 | c.3161T>C (p.Leu1054Pro) c.3146T>C (p.Leu1049Pro) c.3068T>C (p.Leu1023Pro) c.3032T>C (p.Leu1011Pro) c.3020T>C (p.Leu1007Pro) c.2927T>C (p.Leu976Pro) c.2885T>C (p.Leu962Pro) c.2432T>C (p.Leu811Pro) c.1094T>C (p.Leu365Pro) n.3399T>C n.3332+269T>C c.2798T>C (p.Leu933Pro) c.2651T>C (p.Leu884Pro) | |
| 9 | g.74782410A>T | CA373670637 | TRPM6 | c.3161T>A (p.Leu1054His) c.3146T>A (p.Leu1049His) c.3068T>A (p.Leu1023His) c.3032T>A (p.Leu1011His) c.3020T>A (p.Leu1007His) c.2927T>A (p.Leu976His) c.2885T>A (p.Leu962His) c.2432T>A (p.Leu811His) c.1094T>A (p.Leu365His) n.3399T>A n.3332+269T>A c.2798T>A (p.Leu933His) c.2651T>A (p.Leu884His) | |
| 9 | g.74782411G>A | CA373670641 | TRPM6 | c.3160C>T (p.Leu1054Phe) c.3145C>T (p.Leu1049Phe) c.3067C>T (p.Leu1023Phe) c.3031C>T (p.Leu1011Phe) c.3019C>T (p.Leu1007Phe) c.2926C>T (p.Leu976Phe) c.2884C>T (p.Leu962Phe) c.2431C>T (p.Leu811Phe) c.1093C>T (p.Leu365Phe) n.3398C>T n.3332+268C>T c.2797C>T (p.Leu933Phe) c.2650C>T (p.Leu884Phe) | |
| 9 | g.74782411G>C | CA373670643 | TRPM6 | c.3160C>G (p.Leu1054Val) c.3145C>G (p.Leu1049Val) c.3067C>G (p.Leu1023Val) c.3031C>G (p.Leu1011Val) c.3019C>G (p.Leu1007Val) c.2926C>G (p.Leu976Val) c.2884C>G (p.Leu962Val) c.2431C>G (p.Leu811Val) c.1093C>G (p.Leu365Val) n.3398C>G n.3332+268C>G c.2797C>G (p.Leu933Val) c.2650C>G (p.Leu884Val) |