Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117624642_117629920del | CA915945441 | CFTR | c.3469-2880_3517+2350del c.*3183-2880_*3431+2150del c.3286-2880_3534+2150del c.3469-2880_3717+2150del c.3469-1362_*370+2150del c.3469-1362_*378+2150del c.*1844-2880_*2092+2150del c.3463-2880_3711+2150del c.*3293-2880_*3541+2150del c.3043-2880_3291+2150del c.217-2880_465+2150del c.1060-1362_1504+2150del c.51-2880_299+2150del c.1119-2880_1167+2350del c.3379-2880_3627+2150del c.3559-2880_3807+2150del c.3226-2880_3474+2150del | ClinVar |
7 | g.117627333_117631592del | CA915945443 | CFTR | c.3469-189_3517+4022del c.*3183-189_*3431+3822del c.3286-189_3534+3822del c.3469-189_3717+3822del c.*122-189_*370+3822del c.*130-189_*378+3822del c.*1844-189_*2092+3822del c.3463-189_3711+3822del c.*3293-189_*3541+3822del c.3043-189_3291+3822del c.217-189_465+3822del c.1256-189_1504+3822del c.51-189_299+3822del c.1119-189_1167+4022del c.3379-189_3627+3822del c.3559-189_3807+3822del c.3226-189_3474+3822del | |
7 | g.117627470_117632802dup | CA2580614241 | CFTR | c.3469-52_3517+5232dup c.*3183-52_*3431+5032dup c.3286-52_3534+5032dup c.3469-52_3717+5032dup c.*122-52_*370+5032dup c.*130-52_*378+5032dup c.*1844-52_*2092+5032dup c.3463-52_3711+5032dup c.*3293-52_*3541+5032dup c.3043-52_3291+5032dup c.217-52_465+5032dup c.1256-52_1504+5032dup c.51-52_299+5032dup c.1119-52_1167+5232dup c.3379-52_3627+5032dup c.3559-52_3807+5032dup c.3226-52_3474+5032dup | |
7 | g.117627522_117627770del | CA327202 | CFTR | c.3469_3517+200del c.*3183_*3431del c.3286_3534del c.3469_3717del c.*122_*370del c.*130_*378del c.*1844_*2092del c.3463_3711del c.*3293_*3541del c.3043_3291del c.217_465del c.1256_1504del c.51_299del c.1119_1167+200del c.2251_2499del c.3379_3627del c.294_542del c.3559_3807del c.3226_3474del | |
7 | g.117627537C>A | CA457231156 | CFTR | c.3484C>A (p.Arg1162=) c.*3198C>A (n.*3198C>A) c.3301C>A (p.Arg1101=) c.*137C>A (n.*137C>A) c.*145C>A (n.*145C>A) c.*1859C>A (n.*1859C>A) c.3478C>A (p.Arg1160=) c.*3308C>A (n.*3308C>A) c.3058C>A (p.Arg1020=) c.232C>A (p.Arg78=) c.1271C>A (n.1271C>A) c.66C>A c.1134C>A c.2266C>A (p.Arg756=) c.3394C>A (p.Arg1132=) c.309C>A c.3574C>A (p.Arg1192=) c.3241C>A (p.Arg1081=) | |
7 | g.117627537C= | CA1737398608 | CFTR | c.3484C= (p.Arg1162=) c.*3198C= (n.*3198C=) c.3301C= (p.Arg1101=) c.*137C= (n.*137C=) c.*145C= (n.*145C=) c.*1859C= (n.*1859C=) c.3478C= (p.Arg1160=) c.*3308C= (n.*3308C=) c.3058C= (p.Arg1020=) c.232C= (p.Arg78=) c.1271C= (n.1271C=) c.66C= c.1134C= c.2266C= (p.Arg756=) c.3394C= (p.Arg1132=) c.309C= c.3574C= (p.Arg1192=) c.3241C= (p.Arg1081=) | |
7 | g.117627537C>G | CA368996002 | CFTR | c.3484C>G (p.Arg1162Gly) c.*3198C>G (n.*3198C>G) c.3301C>G (p.Arg1101Gly) c.*137C>G (n.*137C>G) c.*145C>G (n.*145C>G) c.*1859C>G (n.*1859C>G) c.3478C>G (p.Arg1160Gly) c.*3308C>G (n.*3308C>G) c.3058C>G (p.Arg1020Gly) c.232C>G (p.Arg78Gly) c.1271C>G (n.1271C>G) c.66C>G c.1134C>G c.2266C>G (p.Arg756Gly) c.3394C>G (p.Arg1132Gly) c.309C>G c.3574C>G (p.Arg1192Gly) c.3241C>G (p.Arg1081Gly) | |
7 | g.117627537C>T | CA340642 | CFTR | c.3484C>T (p.Arg1162Ter) c.*3198C>T (n.*3198C>T) c.3301C>T (p.Arg1101Ter) c.*137C>T (n.*137C>T) c.*145C>T (n.*145C>T) c.*1859C>T (n.*1859C>T) c.3478C>T (p.Arg1160Ter) c.*3308C>T (n.*3308C>T) c.3058C>T (p.Arg1020Ter) c.232C>T (p.Arg78Ter) c.1271C>T (n.1271C>T) c.66C>T c.1134C>T c.2266C>T (p.Arg756Ter) c.3394C>T (p.Arg1132Ter) c.309C>T c.3574C>T (p.Arg1192Ter) c.3241C>T (p.Arg1081Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627537_117627539delinsCGA | CA1737398609 | CFTR | c.3484_3486delinsCGA (p.Arg1162=) c.*3198_*3200delinsCGA (n.*3198_*3200delinsCGA) c.3301_3303delinsCGA (p.Arg1101=) c.*137_*139delinsCGA (n.*137_*139delinsCGA) c.*145_*147delinsCGA (n.*145_*147delinsCGA) c.*1859_*1861delinsCGA (n.*1859_*1861delinsCGA) c.3478_3480delinsCGA (p.Arg1160=) c.*3308_*3310delinsCGA (n.*3308_*3310delinsCGA) c.3058_3060delinsCGA (p.Arg1020=) c.232_234delinsCGA (p.Arg78=) c.1271_1273delinsCGA (n.1271_1273delinsCGA) c.66_68delinsCGA c.1134_1136delinsCGA c.2266_2268delinsCGA (p.Arg756=) c.3394_3396delinsCGA (p.Arg1132=) c.309_311delinsCGA c.3574_3576delinsCGA (p.Arg1192=) c.3241_3243delinsCGA (p.Arg1081=) | |
7 | g.117627538G>A | CA4451485 | CFTR | c.3485G>A (p.Arg1162Gln) c.*3199G>A (n.*3199G>A) c.3302G>A (p.Arg1101Gln) c.*138G>A (n.*138G>A) c.*146G>A (n.*146G>A) c.*1860G>A (n.*1860G>A) c.3479G>A (p.Arg1160Gln) c.*3309G>A (n.*3309G>A) c.3059G>A (p.Arg1020Gln) c.233G>A (p.Arg78Gln) c.1272G>A (n.1272G>A) c.67G>A c.1135G>A c.2267G>A (p.Arg756Gln) c.3395G>A (p.Arg1132Gln) c.310G>A c.3575G>A (p.Arg1192Gln) c.3242G>A (p.Arg1081Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627538G>C | CA164976465 | CFTR | c.3485G>C (p.Arg1162Pro) c.*3199G>C (n.*3199G>C) c.3302G>C (p.Arg1101Pro) c.*138G>C (n.*138G>C) c.*146G>C (n.*146G>C) c.*1860G>C (n.*1860G>C) c.3479G>C (p.Arg1160Pro) c.*3309G>C (n.*3309G>C) c.3059G>C (p.Arg1020Pro) c.233G>C (p.Arg78Pro) c.1272G>C (n.1272G>C) c.67G>C c.1135G>C c.2267G>C (p.Arg756Pro) c.3395G>C (p.Arg1132Pro) c.310G>C c.3575G>C (p.Arg1192Pro) c.3242G>C (p.Arg1081Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.117627538G= | CA1737398610 | CFTR | c.3485G= (p.Arg1162=) c.*3199G= (n.*3199G=) c.3302G= (p.Arg1101=) c.*138G= (n.*138G=) c.*146G= (n.*146G=) c.*1860G= (n.*1860G=) c.3479G= (p.Arg1160=) c.*3309G= (n.*3309G=) c.3059G= (p.Arg1020=) c.233G= (p.Arg78=) c.1272G= (n.1272G=) c.67G= c.1135G= c.2267G= (p.Arg756=) c.3395G= (p.Arg1132=) c.310G= c.3575G= (p.Arg1192=) c.3242G= (p.Arg1081=) | |
7 | g.117627538G>T | CA4451484 | CFTR | c.3485G>T (p.Arg1162Leu) c.*3199G>T (n.*3199G>T) c.3302G>T (p.Arg1101Leu) c.*138G>T (n.*138G>T) c.*146G>T (n.*146G>T) c.*1860G>T (n.*1860G>T) c.3479G>T (p.Arg1160Leu) c.*3309G>T (n.*3309G>T) c.3059G>T (p.Arg1020Leu) c.233G>T (p.Arg78Leu) c.1272G>T (n.1272G>T) c.67G>T c.1135G>T c.2267G>T (p.Arg756Leu) c.3395G>T (p.Arg1132Leu) c.310G>T c.3575G>T (p.Arg1192Leu) c.3242G>T (p.Arg1081Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627539_117627540del | CA327214 | CFTR | c.3486_3487del (p.Val1163LeufsTer2) c.*3200_*3201del (n.*3200_*3201del) c.3303_3304del (p.Val1102LeufsTer2) c.*139_*140del (n.*139_*140del) c.*147_*148del (n.*147_*148del) c.*1861_*1862del (n.*1861_*1862del) c.3480_3481del (p.Val1161LeufsTer2) c.*3310_*3311del (n.*3310_*3311del) c.3060_3061del (p.Val1021LeufsTer2) c.234_235del (p.Val79LeufsTer2) c.1273_1274del (n.1273_1274del) c.68_69del c.1136_1137del c.2268_2269del (p.Val757LeufsTer2) c.3396_3397del (p.Val1133LeufsTer2) c.311_312del c.3576_3577del (p.Val1193LeufsTer2) c.3243_3244del (p.Val1082LeufsTer2) | ClinVar dbSNP |
7 | g.117627539A>C | CA457231160 | CFTR | c.3486A>C (p.Arg1162=) c.*3200A>C (n.*3200A>C) c.3303A>C (p.Arg1101=) c.*139A>C (n.*139A>C) c.*147A>C (n.*147A>C) c.*1861A>C (n.*1861A>C) c.3480A>C (p.Arg1160=) c.*3310A>C (n.*3310A>C) c.3060A>C (p.Arg1020=) c.234A>C (p.Arg78=) c.1273A>C (n.1273A>C) c.68A>C c.1136A>C c.2268A>C (p.Arg756=) c.3396A>C (p.Arg1132=) c.311A>C c.3576A>C (p.Arg1192=) c.3243A>C (p.Arg1081=) | |
7 | g.117627539A>G | CA457231161 | CFTR | c.3486A>G (p.Arg1162=) c.*3200A>G (n.*3200A>G) c.3303A>G (p.Arg1101=) c.*139A>G (n.*139A>G) c.*147A>G (n.*147A>G) c.*1861A>G (n.*1861A>G) c.3480A>G (p.Arg1160=) c.*3310A>G (n.*3310A>G) c.3060A>G (p.Arg1020=) c.234A>G (p.Arg78=) c.1273A>G (n.1273A>G) c.68A>G c.1136A>G c.2268A>G (p.Arg756=) c.3396A>G (p.Arg1132=) c.311A>G c.3576A>G (p.Arg1192=) c.3243A>G (p.Arg1081=) | |
7 | g.117627539A>T | CA457231162 | CFTR | c.3486A>T (p.Arg1162=) c.*3200A>T (n.*3200A>T) c.3303A>T (p.Arg1101=) c.*139A>T (n.*139A>T) c.*147A>T (n.*147A>T) c.*1861A>T (n.*1861A>T) c.3480A>T (p.Arg1160=) c.*3310A>T (n.*3310A>T) c.3060A>T (p.Arg1020=) c.234A>T (p.Arg78=) c.1273A>T (n.1273A>T) c.68A>T c.1136A>T c.2268A>T (p.Arg756=) c.3396A>T (p.Arg1132=) c.311A>T c.3576A>T (p.Arg1192=) c.3243A>T (p.Arg1081=) | |
7 | g.117627540G>A | CA368996015 | CFTR | c.3487G>A (p.Val1163Ile) c.*3201G>A (n.*3201G>A) c.3304G>A (p.Val1102Ile) c.*140G>A (n.*140G>A) c.*148G>A (n.*148G>A) c.*1862G>A (n.*1862G>A) c.3481G>A (p.Val1161Ile) c.*3311G>A (n.*3311G>A) c.3061G>A (p.Val1021Ile) c.235G>A (p.Val79Ile) c.1274G>A (n.1274G>A) c.69G>A c.1137G>A c.2269G>A (p.Val757Ile) c.3397G>A (p.Val1133Ile) c.312G>A c.3577G>A (p.Val1193Ile) c.3244G>A (p.Val1082Ile) | ClinVar |
7 | g.117627540G>C | CA368996018 | CFTR | c.3487G>C (p.Val1163Leu) c.*3201G>C (n.*3201G>C) c.3304G>C (p.Val1102Leu) c.*140G>C (n.*140G>C) c.*148G>C (n.*148G>C) c.*1862G>C (n.*1862G>C) c.3481G>C (p.Val1161Leu) c.*3311G>C (n.*3311G>C) c.3061G>C (p.Val1021Leu) c.235G>C (p.Val79Leu) c.1274G>C (n.1274G>C) c.69G>C c.1137G>C c.2269G>C (p.Val757Leu) c.3397G>C (p.Val1133Leu) c.312G>C c.3577G>C (p.Val1193Leu) c.3244G>C (p.Val1082Leu) | |
7 | g.117627540G>T | CA368996020 | CFTR | c.3487G>T (p.Val1163Phe) c.*3201G>T (n.*3201G>T) c.3304G>T (p.Val1102Phe) c.*140G>T (n.*140G>T) c.*148G>T (n.*148G>T) c.*1862G>T (n.*1862G>T) c.3481G>T (p.Val1161Phe) c.*3311G>T (n.*3311G>T) c.3061G>T (p.Val1021Phe) c.235G>T (p.Val79Phe) c.1274G>T (n.1274G>T) c.69G>T c.1137G>T c.2269G>T (p.Val757Phe) c.3397G>T (p.Val1133Phe) c.312G>T c.3577G>T (p.Val1193Phe) c.3244G>T (p.Val1082Phe) | |
7 | g.117627541T>A | CA368996023 | CFTR | c.3488T>A (p.Val1163Asp) c.*3202T>A (n.*3202T>A) c.3305T>A (p.Val1102Asp) c.*141T>A (n.*141T>A) c.*149T>A (n.*149T>A) c.*1863T>A (n.*1863T>A) c.3482T>A (p.Val1161Asp) c.*3312T>A (n.*3312T>A) c.3062T>A (p.Val1021Asp) c.236T>A (p.Val79Asp) c.1275T>A (n.1275T>A) c.70T>A c.1138T>A c.2270T>A (p.Val757Asp) c.3398T>A (p.Val1133Asp) c.313T>A c.3578T>A (p.Val1193Asp) c.3245T>A (p.Val1082Asp) | |
7 | g.117627541T>C | CA368996026 | CFTR | c.3488T>C (p.Val1163Ala) c.*3202T>C (n.*3202T>C) c.3305T>C (p.Val1102Ala) c.*141T>C (n.*141T>C) c.*149T>C (n.*149T>C) c.*1863T>C (n.*1863T>C) c.3482T>C (p.Val1161Ala) c.*3312T>C (n.*3312T>C) c.3062T>C (p.Val1021Ala) c.236T>C (p.Val79Ala) c.1275T>C (n.1275T>C) c.70T>C c.1138T>C c.2270T>C (p.Val757Ala) c.3398T>C (p.Val1133Ala) c.313T>C c.3578T>C (p.Val1193Ala) c.3245T>C (p.Val1082Ala) | |
7 | g.117627541T>G | CA164976470 | CFTR | c.3488T>G (p.Val1163Gly) c.*3202T>G (n.*3202T>G) c.3305T>G (p.Val1102Gly) c.*141T>G (n.*141T>G) c.*149T>G (n.*149T>G) c.*1863T>G (n.*1863T>G) c.3482T>G (p.Val1161Gly) c.*3312T>G (n.*3312T>G) c.3062T>G (p.Val1021Gly) c.236T>G (p.Val79Gly) c.1275T>G (n.1275T>G) c.70T>G c.1138T>G c.2270T>G (p.Val757Gly) c.3398T>G (p.Val1133Gly) c.313T>G c.3578T>G (p.Val1193Gly) c.3245T>G (p.Val1082Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627541T= | CA1737398611 | CFTR | c.3488T= (p.Val1163=) c.*3202T= (n.*3202T=) c.3305T= (p.Val1102=) c.*141T= (n.*141T=) c.*149T= (n.*149T=) c.*1863T= (n.*1863T=) c.3482T= (p.Val1161=) c.*3312T= (n.*3312T=) c.3062T= (p.Val1021=) c.236T= (p.Val79=) c.1275T= (n.1275T=) c.70T= c.1138T= c.2270T= (p.Val757=) c.3398T= (p.Val1133=) c.313T= c.3578T= (p.Val1193=) c.3245T= (p.Val1082=) | |
7 | g.117627542C>A | CA457231164 | CFTR | c.3489C>A (p.Val1163=) c.*3203C>A (n.*3203C>A) c.3306C>A (p.Val1102=) c.*142C>A (n.*142C>A) c.*150C>A (n.*150C>A) c.*1864C>A (n.*1864C>A) c.3483C>A (p.Val1161=) c.*3313C>A (n.*3313C>A) c.3063C>A (p.Val1021=) c.237C>A (p.Val79=) c.1276C>A (n.1276C>A) c.71C>A c.1139C>A c.2271C>A (p.Val757=) c.3399C>A (p.Val1133=) c.314C>A c.3579C>A (p.Val1193=) c.3246C>A (p.Val1082=) | |
7 | g.117627542C= | CA1737398612 | CFTR | c.3489C= (p.Val1163=) c.*3203C= (n.*3203C=) c.3306C= (p.Val1102=) c.*142C= (n.*142C=) c.*150C= (n.*150C=) c.*1864C= (n.*1864C=) c.3483C= (p.Val1161=) c.*3313C= (n.*3313C=) c.3063C= (p.Val1021=) c.237C= (p.Val79=) c.1276C= (n.1276C=) c.71C= c.1139C= c.2271C= (p.Val757=) c.3399C= (p.Val1133=) c.314C= c.3579C= (p.Val1193=) c.3246C= (p.Val1082=) | |
7 | g.117627542C>G | CA457231166 | CFTR | c.3489C>G (p.Val1163=) c.*3203C>G (n.*3203C>G) c.3306C>G (p.Val1102=) c.*142C>G (n.*142C>G) c.*150C>G (n.*150C>G) c.*1864C>G (n.*1864C>G) c.3483C>G (p.Val1161=) c.*3313C>G (n.*3313C>G) c.3063C>G (p.Val1021=) c.237C>G (p.Val79=) c.1276C>G (n.1276C>G) c.71C>G c.1139C>G c.2271C>G (p.Val757=) c.3399C>G (p.Val1133=) c.314C>G c.3579C>G (p.Val1193=) c.3246C>G (p.Val1082=) | |
7 | g.117627542C>T | CA457231165 | CFTR | c.3489C>T (p.Val1163=) c.*3203C>T (n.*3203C>T) c.3306C>T (p.Val1102=) c.*142C>T (n.*142C>T) c.*150C>T (n.*150C>T) c.*1864C>T (n.*1864C>T) c.3483C>T (p.Val1161=) c.*3313C>T (n.*3313C>T) c.3063C>T (p.Val1021=) c.237C>T (p.Val79=) c.1276C>T (n.1276C>T) c.71C>T c.1139C>T c.2271C>T (p.Val757=) c.3399C>T (p.Val1133=) c.314C>T c.3579C>T (p.Val1193=) c.3246C>T (p.Val1082=) | |
7 | g.117627543T>A | CA368996028 | CFTR | c.3490T>A (p.Phe1164Ile) c.*3204T>A (n.*3204T>A) c.3307T>A (p.Phe1103Ile) c.*143T>A (n.*143T>A) c.*151T>A (n.*151T>A) c.*1865T>A (n.*1865T>A) c.3484T>A (p.Phe1162Ile) c.*3314T>A (n.*3314T>A) c.3064T>A (p.Phe1022Ile) c.238T>A (p.Phe80Ile) c.1277T>A (n.1277T>A) c.72T>A c.1140T>A c.2272T>A (p.Phe758Ile) c.3400T>A (p.Phe1134Ile) c.315T>A c.3580T>A (p.Phe1194Ile) c.3247T>A (p.Phe1083Ile) | |
7 | g.117627543T>C | CA368996032 | CFTR | c.3490T>C (p.Phe1164Leu) c.*3204T>C (n.*3204T>C) c.3307T>C (p.Phe1103Leu) c.*143T>C (n.*143T>C) c.*151T>C (n.*151T>C) c.*1865T>C (n.*1865T>C) c.3484T>C (p.Phe1162Leu) c.*3314T>C (n.*3314T>C) c.3064T>C (p.Phe1022Leu) c.238T>C (p.Phe80Leu) c.1277T>C (n.1277T>C) c.72T>C c.1140T>C c.2272T>C (p.Phe758Leu) c.3400T>C (p.Phe1134Leu) c.315T>C c.3580T>C (p.Phe1194Leu) c.3247T>C (p.Phe1083Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627543T>G | CA368996035 | CFTR | c.3490T>G (p.Phe1164Val) c.*3204T>G (n.*3204T>G) c.3307T>G (p.Phe1103Val) c.*143T>G (n.*143T>G) c.*151T>G (n.*151T>G) c.*1865T>G (n.*1865T>G) c.3484T>G (p.Phe1162Val) c.*3314T>G (n.*3314T>G) c.3064T>G (p.Phe1022Val) c.238T>G (p.Phe80Val) c.1277T>G (n.1277T>G) c.72T>G c.1140T>G c.2272T>G (p.Phe758Val) c.3400T>G (p.Phe1134Val) c.315T>G c.3580T>G (p.Phe1194Val) c.3247T>G (p.Phe1083Val) | |
7 | g.117627543T= | CA1737398613 | CFTR | c.3490T= (p.Phe1164=) c.*3204T= (n.*3204T=) c.3307T= (p.Phe1103=) c.*143T= (n.*143T=) c.*151T= (n.*151T=) c.*1865T= (n.*1865T=) c.3484T= (p.Phe1162=) c.*3314T= (n.*3314T=) c.3064T= (p.Phe1022=) c.238T= (p.Phe80=) c.1277T= (n.1277T=) c.72T= c.1140T= c.2272T= (p.Phe758=) c.3400T= (p.Phe1134=) c.315T= c.3580T= (p.Phe1194=) c.3247T= (p.Phe1083=) | |
7 | g.117627545dup | CA325610 | CFTR | c.3492dup (p.Lys1165Ter) c.*3206dup (n.*3206dup) c.3309dup (p.Lys1104Ter) c.*145dup (n.*145dup) c.*153dup (n.*153dup) c.*1867dup (n.*1867dup) c.3486dup (p.Lys1163Ter) c.*3316dup (n.*3316dup) c.3066dup (p.Lys1023Ter) c.240dup (p.Lys81Ter) c.1279dup (n.1279dup) c.74dup c.1142dup c.2274dup (p.Lys759Ter) c.3402dup (p.Lys1135Ter) c.317dup c.3582dup (p.Lys1195Ter) c.3249dup (p.Lys1084Ter) | ClinVar dbSNP |
7 | g.117627545del | CA2695199623 | CFTR | c.3492del (p.Phe1164LeufsTer?) c.*3206del (n.*3206del) c.3309del (p.Phe1103LeufsTer28) c.3492del (p.Phe1164LeufsTer28) c.*145del (n.*145del) c.*153del (n.*153del) c.*1867del (n.*1867del) c.3486del (p.Phe1162LeufsTer28) c.*3316del (n.*3316del) c.3066del (p.Phe1022LeufsTer28) c.240del (p.Phe80LeufsTer28) c.1279del (n.1279del) c.74del c.1142del c.2274del (p.Phe758LeufsTer28) c.3402del (p.Phe1134LeufsTer28) c.317del c.3582del (p.Phe1194LeufsTer28) c.3249del (p.Phe1083LeufsTer28) | |
7 | g.117627544T>A | CA368996048 | CFTR | c.3491T>A (p.Phe1164Tyr) c.*3205T>A (n.*3205T>A) c.3308T>A (p.Phe1103Tyr) c.*144T>A (n.*144T>A) c.*152T>A (n.*152T>A) c.*1866T>A (n.*1866T>A) c.3485T>A (p.Phe1162Tyr) c.*3315T>A (n.*3315T>A) c.3065T>A (p.Phe1022Tyr) c.239T>A (p.Phe80Tyr) c.1278T>A (n.1278T>A) c.73T>A c.1141T>A c.2273T>A (p.Phe758Tyr) c.3401T>A (p.Phe1134Tyr) c.316T>A c.3581T>A (p.Phe1194Tyr) c.3248T>A (p.Phe1083Tyr) | |
7 | g.117627544T>C | CA368996045 | CFTR | c.3491T>C (p.Phe1164Ser) c.*3205T>C (n.*3205T>C) c.3308T>C (p.Phe1103Ser) c.*144T>C (n.*144T>C) c.*152T>C (n.*152T>C) c.*1866T>C (n.*1866T>C) c.3485T>C (p.Phe1162Ser) c.*3315T>C (n.*3315T>C) c.3065T>C (p.Phe1022Ser) c.239T>C (p.Phe80Ser) c.1278T>C (n.1278T>C) c.73T>C c.1141T>C c.2273T>C (p.Phe758Ser) c.3401T>C (p.Phe1134Ser) c.316T>C c.3581T>C (p.Phe1194Ser) c.3248T>C (p.Phe1083Ser) | |
7 | g.117627544T>G | CA368996043 | CFTR | c.3491T>G (p.Phe1164Cys) c.*3205T>G (n.*3205T>G) c.3308T>G (p.Phe1103Cys) c.*144T>G (n.*144T>G) c.*152T>G (n.*152T>G) c.*1866T>G (n.*1866T>G) c.3485T>G (p.Phe1162Cys) c.*3315T>G (n.*3315T>G) c.3065T>G (p.Phe1022Cys) c.239T>G (p.Phe80Cys) c.1278T>G (n.1278T>G) c.73T>G c.1141T>G c.2273T>G (p.Phe758Cys) c.3401T>G (p.Phe1134Cys) c.316T>G c.3581T>G (p.Phe1194Cys) c.3248T>G (p.Phe1083Cys) | |
7 | g.117627545T>A | CA368996051 | CFTR | c.3492T>A (p.Phe1164Leu) c.*3206T>A (n.*3206T>A) c.3309T>A (p.Phe1103Leu) c.*145T>A (n.*145T>A) c.*153T>A (n.*153T>A) c.*1867T>A (n.*1867T>A) c.3486T>A (p.Phe1162Leu) c.*3316T>A (n.*3316T>A) c.3066T>A (p.Phe1022Leu) c.240T>A (p.Phe80Leu) c.1279T>A (n.1279T>A) c.74T>A c.1142T>A c.2274T>A (p.Phe758Leu) c.3402T>A (p.Phe1134Leu) c.317T>A c.3582T>A (p.Phe1194Leu) c.3249T>A (p.Phe1083Leu) | |
7 | g.117627545T>C | CA457231168 | CFTR | c.3492T>C (p.Phe1164=) c.*3206T>C (n.*3206T>C) c.3309T>C (p.Phe1103=) c.*145T>C (n.*145T>C) c.*153T>C (n.*153T>C) c.*1867T>C (n.*1867T>C) c.3486T>C (p.Phe1162=) c.*3316T>C (n.*3316T>C) c.3066T>C (p.Phe1022=) c.240T>C (p.Phe80=) c.1279T>C (n.1279T>C) c.74T>C c.1142T>C c.2274T>C (p.Phe758=) c.3402T>C (p.Phe1134=) c.317T>C c.3582T>C (p.Phe1194=) c.3249T>C (p.Phe1083=) | |
7 | g.117627545T>G | CA368996052 | CFTR | c.3492T>G (p.Phe1164Leu) c.*3206T>G (n.*3206T>G) c.3309T>G (p.Phe1103Leu) c.*145T>G (n.*145T>G) c.*153T>G (n.*153T>G) c.*1867T>G (n.*1867T>G) c.3486T>G (p.Phe1162Leu) c.*3316T>G (n.*3316T>G) c.3066T>G (p.Phe1022Leu) c.240T>G (p.Phe80Leu) c.1279T>G (n.1279T>G) c.74T>G c.1142T>G c.2274T>G (p.Phe758Leu) c.3402T>G (p.Phe1134Leu) c.317T>G c.3582T>G (p.Phe1194Leu) c.3249T>G (p.Phe1083Leu) | |
7 | g.117627546A>C | CA368996053 | CFTR | c.3493A>C (p.Lys1165Gln) c.*3207A>C (n.*3207A>C) c.3310A>C (p.Lys1104Gln) c.*146A>C (n.*146A>C) c.*154A>C (n.*154A>C) c.*1868A>C (n.*1868A>C) c.3487A>C (p.Lys1163Gln) c.*3317A>C (n.*3317A>C) c.3067A>C (p.Lys1023Gln) c.241A>C (p.Lys81Gln) c.1280A>C (n.1280A>C) c.75A>C c.1143A>C c.2275A>C (p.Lys759Gln) c.3403A>C (p.Lys1135Gln) c.318A>C c.3583A>C (p.Lys1195Gln) c.3250A>C (p.Lys1084Gln) | |
7 | g.117627546A>G | CA368996054 | CFTR | c.3493A>G (p.Lys1165Glu) c.*3207A>G (n.*3207A>G) c.3310A>G (p.Lys1104Glu) c.*146A>G (n.*146A>G) c.*154A>G (n.*154A>G) c.*1868A>G (n.*1868A>G) c.3487A>G (p.Lys1163Glu) c.*3317A>G (n.*3317A>G) c.3067A>G (p.Lys1023Glu) c.241A>G (p.Lys81Glu) c.1280A>G (n.1280A>G) c.75A>G c.1143A>G c.2275A>G (p.Lys759Glu) c.3403A>G (p.Lys1135Glu) c.318A>G c.3583A>G (p.Lys1195Glu) c.3250A>G (p.Lys1084Glu) | |
7 | g.117627546A>T | CA368996055 | CFTR | c.3493A>T (p.Lys1165Ter) c.*3207A>T (n.*3207A>T) c.3310A>T (p.Lys1104Ter) c.*146A>T (n.*146A>T) c.*154A>T (n.*154A>T) c.*1868A>T (n.*1868A>T) c.3487A>T (p.Lys1163Ter) c.*3317A>T (n.*3317A>T) c.3067A>T (p.Lys1023Ter) c.241A>T (p.Lys81Ter) c.1280A>T (n.1280A>T) c.75A>T c.1143A>T c.2275A>T (p.Lys759Ter) c.3403A>T (p.Lys1135Ter) c.318A>T c.3583A>T (p.Lys1195Ter) c.3250A>T (p.Lys1084Ter) | |
7 | g.117627546_117627547delinsT | CA2580076325 | CFTR | c.3493_3494delinsT (p.Lys1165CysfsTer?) c.*3207_*3208delinsT (n.*3207_*3208delinsT) c.3310_3311delinsT (p.Lys1104CysfsTer27) c.3493_3494delinsT (p.Lys1165CysfsTer27) c.*146_*147delinsT (n.*146_*147delinsT) c.*154_*155delinsT (n.*154_*155delinsT) c.*1868_*1869delinsT (n.*1868_*1869delinsT) c.3487_3488delinsT (p.Lys1163CysfsTer27) c.*3317_*3318delinsT (n.*3317_*3318delinsT) c.3067_3068delinsT (p.Lys1023CysfsTer27) c.241_242delinsT (p.Lys81CysfsTer27) c.1280_1281delinsT (n.1280_1281delinsT) c.75_76delinsT c.1143_1144delinsT c.2275_2276delinsT (p.Lys759CysfsTer27) c.3403_3404delinsT (p.Lys1135CysfsTer27) c.318_319delinsT c.3583_3584delinsT (p.Lys1195CysfsTer27) c.3250_3251delinsT (p.Lys1084CysfsTer27) | ClinVar |
7 | g.117627547A= | CA1737398614 | CFTR | c.3494A= (p.Lys1165=) c.*3208A= (n.*3208A=) c.3311A= (p.Lys1104=) c.*147A= (n.*147A=) c.*155A= (n.*155A=) c.*1869A= (n.*1869A=) c.3488A= (p.Lys1163=) c.*3318A= (n.*3318A=) c.3068A= (p.Lys1023=) c.242A= (p.Lys81=) c.1281A= (n.1281A=) c.76A= c.1144A= c.2276A= (p.Lys759=) c.3404A= (p.Lys1135=) c.319A= c.3584A= (p.Lys1195=) c.3251A= (p.Lys1084=) | |
7 | g.117627547A>C | CA368996057 | CFTR | c.3494A>C (p.Lys1165Thr) c.*3208A>C (n.*3208A>C) c.3311A>C (p.Lys1104Thr) c.*147A>C (n.*147A>C) c.*155A>C (n.*155A>C) c.*1869A>C (n.*1869A>C) c.3488A>C (p.Lys1163Thr) c.*3318A>C (n.*3318A>C) c.3068A>C (p.Lys1023Thr) c.242A>C (p.Lys81Thr) c.1281A>C (n.1281A>C) c.76A>C c.1144A>C c.2276A>C (p.Lys759Thr) c.3404A>C (p.Lys1135Thr) c.319A>C c.3584A>C (p.Lys1195Thr) c.3251A>C (p.Lys1084Thr) | ClinVar dbSNP |
7 | g.117627547A>G | CA4451486 | CFTR | c.3494A>G (p.Lys1165Arg) c.*3208A>G (n.*3208A>G) c.3311A>G (p.Lys1104Arg) c.*147A>G (n.*147A>G) c.*155A>G (n.*155A>G) c.*1869A>G (n.*1869A>G) c.3488A>G (p.Lys1163Arg) c.*3318A>G (n.*3318A>G) c.3068A>G (p.Lys1023Arg) c.242A>G (p.Lys81Arg) c.1281A>G (n.1281A>G) c.76A>G c.1144A>G c.2276A>G (p.Lys759Arg) c.3404A>G (p.Lys1135Arg) c.319A>G c.3584A>G (p.Lys1195Arg) c.3251A>G (p.Lys1084Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627547A>T | CA368996060 | CFTR | c.3494A>T (p.Lys1165Met) c.*3208A>T (n.*3208A>T) c.3311A>T (p.Lys1104Met) c.*147A>T (n.*147A>T) c.*155A>T (n.*155A>T) c.*1869A>T (n.*1869A>T) c.3488A>T (p.Lys1163Met) c.*3318A>T (n.*3318A>T) c.3068A>T (p.Lys1023Met) c.242A>T (p.Lys81Met) c.1281A>T (n.1281A>T) c.76A>T c.1144A>T c.2276A>T (p.Lys759Met) c.3404A>T (p.Lys1135Met) c.319A>T c.3584A>T (p.Lys1195Met) c.3251A>T (p.Lys1084Met) | |
7 | g.117627547_117627548delinsAG | CA1737398615 | CFTR | c.3494_3495delinsAG (p.Lys1165=) c.*3208_*3209delinsAG (n.*3208_*3209delinsAG) c.3311_3312delinsAG (p.Lys1104=) c.*147_*148delinsAG (n.*147_*148delinsAG) c.*155_*156delinsAG (n.*155_*156delinsAG) c.*1869_*1870delinsAG (n.*1869_*1870delinsAG) c.3488_3489delinsAG (p.Lys1163=) c.*3318_*3319delinsAG (n.*3318_*3319delinsAG) c.3068_3069delinsAG (p.Lys1023=) c.242_243delinsAG (p.Lys81=) c.1281_1282delinsAG (n.1281_1282delinsAG) c.76_77delinsAG c.1144_1145delinsAG c.2276_2277delinsAG (p.Lys759=) c.3404_3405delinsAG (p.Lys1135=) c.319_320delinsAG c.3584_3585delinsAG (p.Lys1195=) c.3251_3252delinsAG (p.Lys1084=) | |
7 | g.117627548del | CA16041136 | CFTR | c.3495del (p.Lys1165AsnfsTer?) c.*3209del (n.*3209del) c.3312del (p.Lys1104AsnfsTer27) c.3495del (p.Lys1165AsnfsTer27) c.*148del (n.*148del) c.*156del (n.*156del) c.*1870del (n.*1870del) c.3489del (p.Lys1163AsnfsTer27) c.*3319del (n.*3319del) c.3069del (p.Lys1023AsnfsTer27) c.243del (p.Lys81AsnfsTer27) c.1282del (n.1282del) c.77del c.1145del c.2277del (p.Lys759AsnfsTer27) c.3405del (p.Lys1135AsnfsTer27) c.320del c.3585del (p.Lys1195AsnfsTer27) c.3252del (p.Lys1084AsnfsTer27) | ClinVar dbSNP |