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.117627532T>A | CA368995967 | CFTR | c.3479T>A (p.Val1160Glu) c.*3193T>A (n.*3193T>A) c.3296T>A (p.Val1099Glu) c.*132T>A (n.*132T>A) c.*140T>A (n.*140T>A) c.*1854T>A (n.*1854T>A) c.3473T>A (p.Val1158Glu) c.*3303T>A (n.*3303T>A) c.3053T>A (p.Val1018Glu) c.227T>A (p.Val76Glu) c.1266T>A (n.1266T>A) c.61T>A c.1129T>A c.2261T>A (p.Val754Glu) c.3389T>A (p.Val1130Glu) c.304T>A c.3569T>A (p.Val1190Glu) c.3236T>A (p.Val1079Glu) | |
7 | g.117627532T>C | CA368995970 | CFTR | c.3479T>C (p.Val1160Ala) c.*3193T>C (n.*3193T>C) c.3296T>C (p.Val1099Ala) c.*132T>C (n.*132T>C) c.*140T>C (n.*140T>C) c.*1854T>C (n.*1854T>C) c.3473T>C (p.Val1158Ala) c.*3303T>C (n.*3303T>C) c.3053T>C (p.Val1018Ala) c.227T>C (p.Val76Ala) c.1266T>C (n.1266T>C) c.61T>C c.1129T>C c.2261T>C (p.Val754Ala) c.3389T>C (p.Val1130Ala) c.304T>C c.3569T>C (p.Val1190Ala) c.3236T>C (p.Val1079Ala) | |
7 | g.117627532T>G | CA368995972 | CFTR | c.3479T>G (p.Val1160Gly) c.*3193T>G (n.*3193T>G) c.3296T>G (p.Val1099Gly) c.*132T>G (n.*132T>G) c.*140T>G (n.*140T>G) c.*1854T>G (n.*1854T>G) c.3473T>G (p.Val1158Gly) c.*3303T>G (n.*3303T>G) c.3053T>G (p.Val1018Gly) c.227T>G (p.Val76Gly) c.1266T>G (n.1266T>G) c.61T>G c.1129T>G c.2261T>G (p.Val754Gly) c.3389T>G (p.Val1130Gly) c.304T>G c.3569T>G (p.Val1190Gly) c.3236T>G (p.Val1079Gly) | |
7 | g.117627533G>A | CA457231151 | CFTR | c.3480G>A (p.Val1160=) c.*3194G>A (n.*3194G>A) c.3297G>A (p.Val1099=) c.*133G>A (n.*133G>A) c.*141G>A (n.*141G>A) c.*1855G>A (n.*1855G>A) c.3474G>A (p.Val1158=) c.*3304G>A (n.*3304G>A) c.3054G>A (p.Val1018=) c.228G>A (p.Val76=) c.1267G>A (n.1267G>A) c.62G>A c.1130G>A c.2262G>A (p.Val754=) c.3390G>A (p.Val1130=) c.305G>A c.3570G>A (p.Val1190=) c.3237G>A (p.Val1079=) | ClinVar dbSNP gnomAD v4 |
7 | g.117627533G>C | CA457231152 | CFTR | c.3480G>C (p.Val1160=) c.*3194G>C (n.*3194G>C) c.3297G>C (p.Val1099=) c.*133G>C (n.*133G>C) c.*141G>C (n.*141G>C) c.*1855G>C (n.*1855G>C) c.3474G>C (p.Val1158=) c.*3304G>C (n.*3304G>C) c.3054G>C (p.Val1018=) c.228G>C (p.Val76=) c.1267G>C (n.1267G>C) c.62G>C c.1130G>C c.2262G>C (p.Val754=) c.3390G>C (p.Val1130=) c.305G>C c.3570G>C (p.Val1190=) c.3237G>C (p.Val1079=) | |
7 | g.117627533G= | CA1737398605 | CFTR | c.3480G= (p.Val1160=) c.*3194G= (n.*3194G=) c.3297G= (p.Val1099=) c.*133G= (n.*133G=) c.*141G= (n.*141G=) c.*1855G= (n.*1855G=) c.3474G= (p.Val1158=) c.*3304G= (n.*3304G=) c.3054G= (p.Val1018=) c.228G= (p.Val76=) c.1267G= (n.1267G=) c.62G= c.1130G= c.2262G= (p.Val754=) c.3390G= (p.Val1130=) c.305G= c.3570G= (p.Val1190=) c.3237G= (p.Val1079=) | |
7 | g.117627533G>T | CA457231153 | CFTR | c.3480G>T (p.Val1160=) c.*3194G>T (n.*3194G>T) c.3297G>T (p.Val1099=) c.*133G>T (n.*133G>T) c.*141G>T (n.*141G>T) c.*1855G>T (n.*1855G>T) c.3474G>T (p.Val1158=) c.*3304G>T (n.*3304G>T) c.3054G>T (p.Val1018=) c.228G>T (p.Val76=) c.1267G>T (n.1267G>T) c.62G>T c.1130G>T c.2262G>T (p.Val754=) c.3390G>T (p.Val1130=) c.305G>T c.3570G>T (p.Val1190=) c.3237G>T (p.Val1079=) | |
7 | g.117627534A= | CA1737398606 | CFTR | c.3481A= (p.Ser1161=) c.*3195A= (n.*3195A=) c.3298A= (p.Ser1100=) c.*134A= (n.*134A=) c.*142A= (n.*142A=) c.*1856A= (n.*1856A=) c.3475A= (p.Ser1159=) c.*3305A= (n.*3305A=) c.3055A= (p.Ser1019=) c.229A= (p.Ser77=) c.1268A= (n.1268A=) c.63A= c.1131A= c.2263A= (p.Ser755=) c.3391A= (p.Ser1131=) c.306A= c.3571A= (p.Ser1191=) c.3238A= (p.Ser1080=) | |
7 | g.117627534A>C | CA327212 | CFTR | c.3481A>C (p.Ser1161Arg) c.*3195A>C (n.*3195A>C) c.3298A>C (p.Ser1100Arg) c.*134A>C (n.*134A>C) c.*142A>C (n.*142A>C) c.*1856A>C (n.*1856A>C) c.3475A>C (p.Ser1159Arg) c.*3305A>C (n.*3305A>C) c.3055A>C (p.Ser1019Arg) c.229A>C (p.Ser77Arg) c.1268A>C (n.1268A>C) c.63A>C c.1131A>C c.2263A>C (p.Ser755Arg) c.3391A>C (p.Ser1131Arg) c.306A>C c.3571A>C (p.Ser1191Arg) c.3238A>C (p.Ser1080Arg) | ClinVar dbSNP |
7 | g.117627534A>G | CA368995977 | CFTR | c.3481A>G (p.Ser1161Gly) c.*3195A>G (n.*3195A>G) c.3298A>G (p.Ser1100Gly) c.*134A>G (n.*134A>G) c.*142A>G (n.*142A>G) c.*1856A>G (n.*1856A>G) c.3475A>G (p.Ser1159Gly) c.*3305A>G (n.*3305A>G) c.3055A>G (p.Ser1019Gly) c.229A>G (p.Ser77Gly) c.1268A>G (n.1268A>G) c.63A>G c.1131A>G c.2263A>G (p.Ser755Gly) c.3391A>G (p.Ser1131Gly) c.306A>G c.3571A>G (p.Ser1191Gly) c.3238A>G (p.Ser1080Gly) | ClinVar |
7 | g.117627534A>T | CA368995980 | CFTR | c.3481A>T (p.Ser1161Cys) c.*3195A>T (n.*3195A>T) c.3298A>T (p.Ser1100Cys) c.*134A>T (n.*134A>T) c.*142A>T (n.*142A>T) c.*1856A>T (n.*1856A>T) c.3475A>T (p.Ser1159Cys) c.*3305A>T (n.*3305A>T) c.3055A>T (p.Ser1019Cys) c.229A>T (p.Ser77Cys) c.1268A>T (n.1268A>T) c.63A>T c.1131A>T c.2263A>T (p.Ser755Cys) c.3391A>T (p.Ser1131Cys) c.306A>T c.3571A>T (p.Ser1191Cys) c.3238A>T (p.Ser1080Cys) | |
7 | g.117627535G>A | CA368995983 | CFTR | c.3482G>A (p.Ser1161Asn) c.*3196G>A (n.*3196G>A) c.3299G>A (p.Ser1100Asn) c.*135G>A (n.*135G>A) c.*143G>A (n.*143G>A) c.*1857G>A (n.*1857G>A) c.3476G>A (p.Ser1159Asn) c.*3306G>A (n.*3306G>A) c.3056G>A (p.Ser1019Asn) c.230G>A (p.Ser77Asn) c.1269G>A (n.1269G>A) c.64G>A c.1132G>A c.2264G>A (p.Ser755Asn) c.3392G>A (p.Ser1131Asn) c.307G>A c.3572G>A (p.Ser1191Asn) c.3239G>A (p.Ser1080Asn) | |
7 | g.117627535G>C | CA368995993 | CFTR | c.3482G>C (p.Ser1161Thr) c.*3196G>C (n.*3196G>C) c.3299G>C (p.Ser1100Thr) c.*135G>C (n.*135G>C) c.*143G>C (n.*143G>C) c.*1857G>C (n.*1857G>C) c.3476G>C (p.Ser1159Thr) c.*3306G>C (n.*3306G>C) c.3056G>C (p.Ser1019Thr) c.230G>C (p.Ser77Thr) c.1269G>C (n.1269G>C) c.64G>C c.1132G>C c.2264G>C (p.Ser755Thr) c.3392G>C (p.Ser1131Thr) c.307G>C c.3572G>C (p.Ser1191Thr) c.3239G>C (p.Ser1080Thr) | |
7 | g.117627535G= | CA1737398607 | CFTR | c.3482G= (p.Ser1161=) c.*3196G= (n.*3196G=) c.3299G= (p.Ser1100=) c.*135G= (n.*135G=) c.*143G= (n.*143G=) c.*1857G= (n.*1857G=) c.3476G= (p.Ser1159=) c.*3306G= (n.*3306G=) c.3056G= (p.Ser1019=) c.230G= (p.Ser77=) c.1269G= (n.1269G=) c.64G= c.1132G= c.2264G= (p.Ser755=) c.3392G= (p.Ser1131=) c.307G= c.3572G= (p.Ser1191=) c.3239G= (p.Ser1080=) | |
7 | g.117627535G>T | CA164976434 | CFTR | c.3482G>T (p.Ser1161Ile) c.*3196G>T (n.*3196G>T) c.3299G>T (p.Ser1100Ile) c.*135G>T (n.*135G>T) c.*143G>T (n.*143G>T) c.*1857G>T (n.*1857G>T) c.3476G>T (p.Ser1159Ile) c.*3306G>T (n.*3306G>T) c.3056G>T (p.Ser1019Ile) c.230G>T (p.Ser77Ile) c.1269G>T (n.1269G>T) c.64G>T c.1132G>T c.2264G>T (p.Ser755Ile) c.3392G>T (p.Ser1131Ile) c.307G>T c.3572G>T (p.Ser1191Ile) c.3239G>T (p.Ser1080Ile) | dbSNP |
7 | g.117627536C>A | CA368995997 | CFTR | c.3483C>A (p.Ser1161Arg) c.*3197C>A (n.*3197C>A) c.3300C>A (p.Ser1100Arg) c.*136C>A (n.*136C>A) c.*144C>A (n.*144C>A) c.*1858C>A (n.*1858C>A) c.3477C>A (p.Ser1159Arg) c.*3307C>A (n.*3307C>A) c.3057C>A (p.Ser1019Arg) c.231C>A (p.Ser77Arg) c.1270C>A (n.1270C>A) c.65C>A c.1133C>A c.2265C>A (p.Ser755Arg) c.3393C>A (p.Ser1131Arg) c.308C>A c.3573C>A (p.Ser1191Arg) c.3240C>A (p.Ser1080Arg) | |
7 | g.117627536C>G | CA368995999 | CFTR | c.3483C>G (p.Ser1161Arg) c.*3197C>G (n.*3197C>G) c.3300C>G (p.Ser1100Arg) c.*136C>G (n.*136C>G) c.*144C>G (n.*144C>G) c.*1858C>G (n.*1858C>G) c.3477C>G (p.Ser1159Arg) c.*3307C>G (n.*3307C>G) c.3057C>G (p.Ser1019Arg) c.231C>G (p.Ser77Arg) c.1270C>G (n.1270C>G) c.65C>G c.1133C>G c.2265C>G (p.Ser755Arg) c.3393C>G (p.Ser1131Arg) c.308C>G c.3573C>G (p.Ser1191Arg) c.3240C>G (p.Ser1080Arg) | |
7 | g.117627536C>T | CA457231155 | CFTR | c.3483C>T (p.Ser1161=) c.*3197C>T (n.*3197C>T) c.3300C>T (p.Ser1100=) c.*136C>T (n.*136C>T) c.*144C>T (n.*144C>T) c.*1858C>T (n.*1858C>T) c.3477C>T (p.Ser1159=) c.*3307C>T (n.*3307C>T) c.3057C>T (p.Ser1019=) c.231C>T (p.Ser77=) c.1270C>T (n.1270C>T) c.65C>T c.1133C>T c.2265C>T (p.Ser755=) c.3393C>T (p.Ser1131=) c.308C>T c.3573C>T (p.Ser1191=) c.3240C>T (p.Ser1080=) | |
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) | ClinVar |
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 |
7 | g.117627548G>A | CA457231170 | CFTR | c.3495G>A (p.Lys1165=) c.*3209G>A (n.*3209G>A) c.3312G>A (p.Lys1104=) c.*148G>A (n.*148G>A) c.*156G>A (n.*156G>A) c.*1870G>A (n.*1870G>A) c.3489G>A (p.Lys1163=) c.*3319G>A (n.*3319G>A) c.3069G>A (p.Lys1023=) c.243G>A (p.Lys81=) c.1282G>A (n.1282G>A) c.77G>A c.1145G>A c.2277G>A (p.Lys759=) c.3405G>A (p.Lys1135=) c.320G>A c.3585G>A (p.Lys1195=) c.3252G>A (p.Lys1084=) | ClinVar |
7 | g.117627548G>C | CA368996066 | CFTR | c.3495G>C (p.Lys1165Asn) c.*3209G>C (n.*3209G>C) c.3312G>C (p.Lys1104Asn) c.*148G>C (n.*148G>C) c.*156G>C (n.*156G>C) c.*1870G>C (n.*1870G>C) c.3489G>C (p.Lys1163Asn) c.*3319G>C (n.*3319G>C) c.3069G>C (p.Lys1023Asn) c.243G>C (p.Lys81Asn) c.1282G>C (n.1282G>C) c.77G>C c.1145G>C c.2277G>C (p.Lys759Asn) c.3405G>C (p.Lys1135Asn) c.320G>C c.3585G>C (p.Lys1195Asn) c.3252G>C (p.Lys1084Asn) | |
7 | g.117627548G>T | CA368996068 | CFTR | c.3495G>T (p.Lys1165Asn) c.*3209G>T (n.*3209G>T) c.3312G>T (p.Lys1104Asn) c.*148G>T (n.*148G>T) c.*156G>T (n.*156G>T) c.*1870G>T (n.*1870G>T) c.3489G>T (p.Lys1163Asn) c.*3319G>T (n.*3319G>T) c.3069G>T (p.Lys1023Asn) c.243G>T (p.Lys81Asn) c.1282G>T (n.1282G>T) c.77G>T c.1145G>T c.2277G>T (p.Lys759Asn) c.3405G>T (p.Lys1135Asn) c.320G>T c.3585G>T (p.Lys1195Asn) c.3252G>T (p.Lys1084Asn) | |
7 | g.117627549T>A | CA368996073 | CFTR | c.3496T>A (p.Phe1166Ile) c.*3210T>A (n.*3210T>A) c.3313T>A (p.Phe1105Ile) c.*149T>A (n.*149T>A) c.*157T>A (n.*157T>A) c.*1871T>A (n.*1871T>A) c.3490T>A (p.Phe1164Ile) c.*3320T>A (n.*3320T>A) c.3070T>A (p.Phe1024Ile) c.244T>A (p.Phe82Ile) c.1283T>A (n.1283T>A) c.78T>A c.1146T>A c.2278T>A (p.Phe760Ile) c.3406T>A (p.Phe1136Ile) c.321T>A c.3586T>A (p.Phe1196Ile) c.3253T>A (p.Phe1085Ile) | |
7 | g.117627549T>C | CA4451487 | CFTR | c.3496T>C (p.Phe1166Leu) c.*3210T>C (n.*3210T>C) c.3313T>C (p.Phe1105Leu) c.*149T>C (n.*149T>C) c.*157T>C (n.*157T>C) c.*1871T>C (n.*1871T>C) c.3490T>C (p.Phe1164Leu) c.*3320T>C (n.*3320T>C) c.3070T>C (p.Phe1024Leu) c.244T>C (p.Phe82Leu) c.1283T>C (n.1283T>C) c.78T>C c.1146T>C c.2278T>C (p.Phe760Leu) c.3406T>C (p.Phe1136Leu) c.321T>C c.3586T>C (p.Phe1196Leu) c.3253T>C (p.Phe1085Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.117627549T>G | CA368996078 | CFTR | c.3496T>G (p.Phe1166Val) c.*3210T>G (n.*3210T>G) c.3313T>G (p.Phe1105Val) c.*149T>G (n.*149T>G) c.*157T>G (n.*157T>G) c.*1871T>G (n.*1871T>G) c.3490T>G (p.Phe1164Val) c.*3320T>G (n.*3320T>G) c.3070T>G (p.Phe1024Val) c.244T>G (p.Phe82Val) c.1283T>G (n.1283T>G) c.78T>G c.1146T>G c.2278T>G (p.Phe760Val) c.3406T>G (p.Phe1136Val) c.321T>G c.3586T>G (p.Phe1196Val) c.3253T>G (p.Phe1085Val) | |
7 | g.117627549T= | CA1737398616 | CFTR | c.3496T= (p.Phe1166=) c.*3210T= (n.*3210T=) c.3313T= (p.Phe1105=) c.*149T= (n.*149T=) c.*157T= (n.*157T=) c.*1871T= (n.*1871T=) c.3490T= (p.Phe1164=) c.*3320T= (n.*3320T=) c.3070T= (p.Phe1024=) c.244T= (p.Phe82=) c.1283T= (n.1283T=) c.78T= c.1146T= c.2278T= (p.Phe760=) c.3406T= (p.Phe1136=) c.321T= c.3586T= (p.Phe1196=) c.3253T= (p.Phe1085=) | |
7 | g.117627550del | CA2695208375 | CFTR | c.3497del (p.Phe1166SerfsTer?) c.*3211del (n.*3211del) c.3314del (p.Phe1105SerfsTer26) c.3497del (p.Phe1166SerfsTer26) c.*150del (n.*150del) c.*158del (n.*158del) c.*1872del (n.*1872del) c.3491del (p.Phe1164SerfsTer26) c.*3321del (n.*3321del) c.3071del (p.Phe1024SerfsTer26) c.245del (p.Phe82SerfsTer26) c.1284del (n.1284del) c.79del c.1147del c.2279del (p.Phe760SerfsTer26) c.3407del (p.Phe1136SerfsTer26) c.322del c.3587del (p.Phe1196SerfsTer26) c.3254del (p.Phe1085SerfsTer26) | |
7 | g.117627550T>A | CA368996086 | CFTR | c.3497T>A (p.Phe1166Tyr) c.*3211T>A (n.*3211T>A) c.3314T>A (p.Phe1105Tyr) c.*150T>A (n.*150T>A) c.*158T>A (n.*158T>A) c.*1872T>A (n.*1872T>A) c.3491T>A (p.Phe1164Tyr) c.*3321T>A (n.*3321T>A) c.3071T>A (p.Phe1024Tyr) c.245T>A (p.Phe82Tyr) c.1284T>A (n.1284T>A) c.79T>A c.1147T>A c.2279T>A (p.Phe760Tyr) c.3407T>A (p.Phe1136Tyr) c.322T>A c.3587T>A (p.Phe1196Tyr) c.3254T>A (p.Phe1085Tyr) | |
7 | g.117627550T>C | CA368996082 | CFTR | c.3497T>C (p.Phe1166Ser) c.*3211T>C (n.*3211T>C) c.3314T>C (p.Phe1105Ser) c.*150T>C (n.*150T>C) c.*158T>C (n.*158T>C) c.*1872T>C (n.*1872T>C) c.3491T>C (p.Phe1164Ser) c.*3321T>C (n.*3321T>C) c.3071T>C (p.Phe1024Ser) c.245T>C (p.Phe82Ser) c.1284T>C (n.1284T>C) c.79T>C c.1147T>C c.2279T>C (p.Phe760Ser) c.3407T>C (p.Phe1136Ser) c.322T>C c.3587T>C (p.Phe1196Ser) c.3254T>C (p.Phe1085Ser) | |
7 | g.117627550T>G | CA327215 | CFTR | c.3497T>G (p.Phe1166Cys) c.*3211T>G (n.*3211T>G) c.3314T>G (p.Phe1105Cys) c.*150T>G (n.*150T>G) c.*158T>G (n.*158T>G) c.*1872T>G (n.*1872T>G) c.3491T>G (p.Phe1164Cys) c.*3321T>G (n.*3321T>G) c.3071T>G (p.Phe1024Cys) c.245T>G (p.Phe82Cys) c.1284T>G (n.1284T>G) c.79T>G c.1147T>G c.2279T>G (p.Phe760Cys) c.3407T>G (p.Phe1136Cys) c.322T>G c.3587T>G (p.Phe1196Cys) c.3254T>G (p.Phe1085Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.117627550T= | CA1737398617 | CFTR | c.3497T= (p.Phe1166=) c.*3211T= (n.*3211T=) c.3314T= (p.Phe1105=) c.*150T= (n.*150T=) c.*158T= (n.*158T=) c.*1872T= (n.*1872T=) c.3491T= (p.Phe1164=) c.*3321T= (n.*3321T=) c.3071T= (p.Phe1024=) c.245T= (p.Phe82=) c.1284T= (n.1284T=) c.79T= c.1147T= c.2279T= (p.Phe760=) c.3407T= (p.Phe1136=) c.322T= c.3587T= (p.Phe1196=) c.3254T= (p.Phe1085=) | |
7 | g.117627551C>A | CA368996090 | CFTR | c.3498C>A (p.Phe1166Leu) c.*3212C>A (n.*3212C>A) c.3315C>A (p.Phe1105Leu) c.*151C>A (n.*151C>A) c.*159C>A (n.*159C>A) c.*1873C>A (n.*1873C>A) c.3492C>A (p.Phe1164Leu) c.*3322C>A (n.*3322C>A) c.3072C>A (p.Phe1024Leu) c.246C>A (p.Phe82Leu) c.1285C>A (n.1285C>A) c.80C>A c.1148C>A c.2280C>A (p.Phe760Leu) c.3408C>A (p.Phe1136Leu) c.323C>A c.3588C>A (p.Phe1196Leu) c.3255C>A (p.Phe1085Leu) | gnomAD v4 |
7 | g.117627551C= | CA1737398618 | CFTR | c.3498C= (p.Phe1166=) c.*3212C= (n.*3212C=) c.3315C= (p.Phe1105=) c.*151C= (n.*151C=) c.*159C= (n.*159C=) c.*1873C= (n.*1873C=) c.3492C= (p.Phe1164=) c.*3322C= (n.*3322C=) c.3072C= (p.Phe1024=) c.246C= (p.Phe82=) c.1285C= (n.1285C=) c.80C= c.1148C= c.2280C= (p.Phe760=) c.3408C= (p.Phe1136=) c.323C= c.3588C= (p.Phe1196=) c.3255C= (p.Phe1085=) | |
7 | g.117627551C>G | CA368996092 | CFTR | c.3498C>G (p.Phe1166Leu) c.*3212C>G (n.*3212C>G) c.3315C>G (p.Phe1105Leu) c.*151C>G (n.*151C>G) c.*159C>G (n.*159C>G) c.*1873C>G (n.*1873C>G) c.3492C>G (p.Phe1164Leu) c.*3322C>G (n.*3322C>G) c.3072C>G (p.Phe1024Leu) c.246C>G (p.Phe82Leu) c.1285C>G (n.1285C>G) c.80C>G c.1148C>G c.2280C>G (p.Phe760Leu) c.3408C>G (p.Phe1136Leu) c.323C>G c.3588C>G (p.Phe1196Leu) c.3255C>G (p.Phe1085Leu) | ClinVar dbSNP |
7 | g.117627551C>T | CA457231172 | CFTR | c.3498C>T (p.Phe1166=) c.*3212C>T (n.*3212C>T) c.3315C>T (p.Phe1105=) c.*151C>T (n.*151C>T) c.*159C>T (n.*159C>T) c.*1873C>T (n.*1873C>T) c.3492C>T (p.Phe1164=) c.*3322C>T (n.*3322C>T) c.3072C>T (p.Phe1024=) c.246C>T (p.Phe82=) c.1285C>T (n.1285C>T) c.80C>T c.1148C>T c.2280C>T (p.Phe760=) c.3408C>T (p.Phe1136=) c.323C>T c.3588C>T (p.Phe1196=) c.3255C>T (p.Phe1085=) | |
7 | g.117627552A= | CA1737398619 | CFTR | c.3499A= (p.Ile1167=) c.*3213A= (n.*3213A=) c.3316A= (p.Ile1106=) c.*152A= (n.*152A=) c.*160A= (n.*160A=) c.*1874A= (n.*1874A=) c.3493A= (p.Ile1165=) c.*3323A= (n.*3323A=) c.3073A= (p.Ile1025=) c.247A= (p.Ile83=) c.1286A= (n.1286A=) c.81A= c.1149A= c.2281A= (p.Ile761=) c.3409A= (p.Ile1137=) c.324A= c.3589A= (p.Ile1197=) c.3256A= (p.Ile1086=) | |
7 | g.117627552A>C | CA368996096 | CFTR | c.3499A>C (p.Ile1167Leu) c.*3213A>C (n.*3213A>C) c.3316A>C (p.Ile1106Leu) c.*152A>C (n.*152A>C) c.*160A>C (n.*160A>C) c.*1874A>C (n.*1874A>C) c.3493A>C (p.Ile1165Leu) c.*3323A>C (n.*3323A>C) c.3073A>C (p.Ile1025Leu) c.247A>C (p.Ile83Leu) c.1286A>C (n.1286A>C) c.81A>C c.1149A>C c.2281A>C (p.Ile761Leu) c.3409A>C (p.Ile1137Leu) c.324A>C c.3589A>C (p.Ile1197Leu) c.3256A>C (p.Ile1086Leu) | |
7 | g.117627552A>G | CA368996097 | CFTR | c.3499A>G (p.Ile1167Val) c.*3213A>G (n.*3213A>G) c.3316A>G (p.Ile1106Val) c.*152A>G (n.*152A>G) c.*160A>G (n.*160A>G) c.*1874A>G (n.*1874A>G) c.3493A>G (p.Ile1165Val) c.*3323A>G (n.*3323A>G) c.3073A>G (p.Ile1025Val) c.247A>G (p.Ile83Val) c.1286A>G (n.1286A>G) c.81A>G c.1149A>G c.2281A>G (p.Ile761Val) c.3409A>G (p.Ile1137Val) c.324A>G c.3589A>G (p.Ile1197Val) c.3256A>G (p.Ile1086Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117627552A>T | CA368996100 | CFTR | c.3499A>T (p.Ile1167Phe) c.*3213A>T (n.*3213A>T) c.3316A>T (p.Ile1106Phe) c.*152A>T (n.*152A>T) c.*160A>T (n.*160A>T) c.*1874A>T (n.*1874A>T) c.3493A>T (p.Ile1165Phe) c.*3323A>T (n.*3323A>T) c.3073A>T (p.Ile1025Phe) c.247A>T (p.Ile83Phe) c.1286A>T (n.1286A>T) c.81A>T c.1149A>T c.2281A>T (p.Ile761Phe) c.3409A>T (p.Ile1137Phe) c.324A>T c.3589A>T (p.Ile1197Phe) c.3256A>T (p.Ile1086Phe) | |
7 | g.117627553T>A | CA368996103 | CFTR | c.3500T>A (p.Ile1167Asn) c.*3214T>A (n.*3214T>A) c.3317T>A (p.Ile1106Asn) c.*153T>A (n.*153T>A) c.*161T>A (n.*161T>A) c.*1875T>A (n.*1875T>A) c.3494T>A (p.Ile1165Asn) c.*3324T>A (n.*3324T>A) c.3074T>A (p.Ile1025Asn) c.248T>A (p.Ile83Asn) c.1287T>A (n.1287T>A) c.82T>A c.1150T>A c.2282T>A (p.Ile761Asn) c.3410T>A (p.Ile1137Asn) c.325T>A c.3590T>A (p.Ile1197Asn) c.3257T>A (p.Ile1086Asn) | ClinVar dbSNP |
7 | g.117627553T>C | CA368996106 | CFTR | c.3500T>C (p.Ile1167Thr) c.*3214T>C (n.*3214T>C) c.3317T>C (p.Ile1106Thr) c.*153T>C (n.*153T>C) c.*161T>C (n.*161T>C) c.*1875T>C (n.*1875T>C) c.3494T>C (p.Ile1165Thr) c.*3324T>C (n.*3324T>C) c.3074T>C (p.Ile1025Thr) c.248T>C (p.Ile83Thr) c.1287T>C (n.1287T>C) c.82T>C c.1150T>C c.2282T>C (p.Ile761Thr) c.3410T>C (p.Ile1137Thr) c.325T>C c.3590T>C (p.Ile1197Thr) c.3257T>C (p.Ile1086Thr) | |
7 | g.117627553T>G | CA368996108 | CFTR | c.3500T>G (p.Ile1167Ser) c.*3214T>G (n.*3214T>G) c.3317T>G (p.Ile1106Ser) c.*153T>G (n.*153T>G) c.*161T>G (n.*161T>G) c.*1875T>G (n.*1875T>G) c.3494T>G (p.Ile1165Ser) c.*3324T>G (n.*3324T>G) c.3074T>G (p.Ile1025Ser) c.248T>G (p.Ile83Ser) c.1287T>G (n.1287T>G) c.82T>G c.1150T>G c.2282T>G (p.Ile761Ser) c.3410T>G (p.Ile1137Ser) c.325T>G c.3590T>G (p.Ile1197Ser) c.3257T>G (p.Ile1086Ser) | |
7 | g.117627554T>A | CA457231176 | CFTR | c.3501T>A (p.Ile1167=) c.*3215T>A (n.*3215T>A) c.3318T>A (p.Ile1106=) c.*154T>A (n.*154T>A) c.*162T>A (n.*162T>A) c.*1876T>A (n.*1876T>A) c.3495T>A (p.Ile1165=) c.*3325T>A (n.*3325T>A) c.3075T>A (p.Ile1025=) c.249T>A (p.Ile83=) c.1288T>A (n.1288T>A) c.83T>A c.1151T>A c.2283T>A (p.Ile761=) c.3411T>A (p.Ile1137=) c.326T>A c.3591T>A (p.Ile1197=) c.3258T>A (p.Ile1086=) | |
7 | g.117627554T>C | CA457231177 | CFTR | c.3501T>C (p.Ile1167=) c.*3215T>C (n.*3215T>C) c.3318T>C (p.Ile1106=) c.*154T>C (n.*154T>C) c.*162T>C (n.*162T>C) c.*1876T>C (n.*1876T>C) c.3495T>C (p.Ile1165=) c.*3325T>C (n.*3325T>C) c.3075T>C (p.Ile1025=) c.249T>C (p.Ile83=) c.1288T>C (n.1288T>C) c.83T>C c.1151T>C c.2283T>C (p.Ile761=) c.3411T>C (p.Ile1137=) c.326T>C c.3591T>C (p.Ile1197=) c.3258T>C (p.Ile1086=) | |
7 | g.117627554T>G | CA368996111 | CFTR | c.3501T>G (p.Ile1167Met) c.*3215T>G (n.*3215T>G) c.3318T>G (p.Ile1106Met) c.*154T>G (n.*154T>G) c.*162T>G (n.*162T>G) c.*1876T>G (n.*1876T>G) c.3495T>G (p.Ile1165Met) c.*3325T>G (n.*3325T>G) c.3075T>G (p.Ile1025Met) c.249T>G (p.Ile83Met) c.1288T>G (n.1288T>G) c.83T>G c.1151T>G c.2283T>G (p.Ile761Met) c.3411T>G (p.Ile1137Met) c.326T>G c.3591T>G (p.Ile1197Met) c.3258T>G (p.Ile1086Met) | |
7 | g.117627555G>A | CA368996114 | CFTR | c.3502G>A (p.Asp1168Asn) c.*3216G>A (n.*3216G>A) c.3319G>A (p.Asp1107Asn) c.*155G>A (n.*155G>A) c.*163G>A (n.*163G>A) c.*1877G>A (n.*1877G>A) c.3496G>A (p.Asp1166Asn) c.*3326G>A (n.*3326G>A) c.3076G>A (p.Asp1026Asn) c.250G>A (p.Asp84Asn) c.1289G>A (n.1289G>A) c.84G>A c.1152G>A c.2284G>A (p.Asp762Asn) c.3412G>A (p.Asp1138Asn) c.327G>A c.3592G>A (p.Asp1198Asn) c.3259G>A (p.Asp1087Asn) | |
7 | g.117627555G>C | CA368996116 | CFTR | c.3502G>C (p.Asp1168His) c.*3216G>C (n.*3216G>C) c.3319G>C (p.Asp1107His) c.*155G>C (n.*155G>C) c.*163G>C (n.*163G>C) c.*1877G>C (n.*1877G>C) c.3496G>C (p.Asp1166His) c.*3326G>C (n.*3326G>C) c.3076G>C (p.Asp1026His) c.250G>C (p.Asp84His) c.1289G>C (n.1289G>C) c.84G>C c.1152G>C c.2284G>C (p.Asp762His) c.3412G>C (p.Asp1138His) c.327G>C c.3592G>C (p.Asp1198His) c.3259G>C (p.Asp1087His) | |
7 | g.117627555G>T | CA368996119 | CFTR | c.3502G>T (p.Asp1168Tyr) c.*3216G>T (n.*3216G>T) c.3319G>T (p.Asp1107Tyr) c.*155G>T (n.*155G>T) c.*163G>T (n.*163G>T) c.*1877G>T (n.*1877G>T) c.3496G>T (p.Asp1166Tyr) c.*3326G>T (n.*3326G>T) c.3076G>T (p.Asp1026Tyr) c.250G>T (p.Asp84Tyr) c.1289G>T (n.1289G>T) c.84G>T c.1152G>T c.2284G>T (p.Asp762Tyr) c.3412G>T (p.Asp1138Tyr) c.327G>T c.3592G>T (p.Asp1198Tyr) c.3259G>T (p.Asp1087Tyr) | gnomAD v4 |
7 | g.117627556A= | CA1737398620 | CFTR | c.3503A= (p.Asp1168=) c.*3217A= (n.*3217A=) c.3320A= (p.Asp1107=) c.*156A= (n.*156A=) c.*164A= (n.*164A=) c.*1878A= (n.*1878A=) c.3497A= (p.Asp1166=) c.*3327A= (n.*3327A=) c.3077A= (p.Asp1026=) c.251A= (p.Asp84=) c.1290A= (n.1290A=) c.85A= c.1153A= c.2285A= (p.Asp762=) c.3413A= (p.Asp1138=) c.328A= c.3593A= (p.Asp1198=) c.3260A= (p.Asp1087=) | |
7 | g.117627556A>C | CA368996125 | CFTR | c.3503A>C (p.Asp1168Ala) c.*3217A>C (n.*3217A>C) c.3320A>C (p.Asp1107Ala) c.*156A>C (n.*156A>C) c.*164A>C (n.*164A>C) c.*1878A>C (n.*1878A>C) c.3497A>C (p.Asp1166Ala) c.*3327A>C (n.*3327A>C) c.3077A>C (p.Asp1026Ala) c.251A>C (p.Asp84Ala) c.1290A>C (n.1290A>C) c.85A>C c.1153A>C c.2285A>C (p.Asp762Ala) c.3413A>C (p.Asp1138Ala) c.328A>C c.3593A>C (p.Asp1198Ala) c.3260A>C (p.Asp1087Ala) | gnomAD v4 |
7 | g.117627556A>G | CA327219 | CFTR | c.3503A>G (p.Asp1168Gly) c.*3217A>G (n.*3217A>G) c.3320A>G (p.Asp1107Gly) c.*156A>G (n.*156A>G) c.*164A>G (n.*164A>G) c.*1878A>G (n.*1878A>G) c.3497A>G (p.Asp1166Gly) c.*3327A>G (n.*3327A>G) c.3077A>G (p.Asp1026Gly) c.251A>G (p.Asp84Gly) c.1290A>G (n.1290A>G) c.85A>G c.1153A>G c.2285A>G (p.Asp762Gly) c.3413A>G (p.Asp1138Gly) c.328A>G c.3593A>G (p.Asp1198Gly) c.3260A>G (p.Asp1087Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627556A>T | CA368996121 | CFTR | c.3503A>T (p.Asp1168Val) c.*3217A>T (n.*3217A>T) c.3320A>T (p.Asp1107Val) c.*156A>T (n.*156A>T) c.*164A>T (n.*164A>T) c.*1878A>T (n.*1878A>T) c.3497A>T (p.Asp1166Val) c.*3327A>T (n.*3327A>T) c.3077A>T (p.Asp1026Val) c.251A>T (p.Asp84Val) c.1290A>T (n.1290A>T) c.85A>T c.1153A>T c.2285A>T (p.Asp762Val) c.3413A>T (p.Asp1138Val) c.328A>T c.3593A>T (p.Asp1198Val) c.3260A>T (p.Asp1087Val) | |
7 | g.117627557C>A | CA368996128 | CFTR | c.3504C>A (p.Asp1168Glu) c.*3218C>A (n.*3218C>A) c.3321C>A (p.Asp1107Glu) c.*157C>A (n.*157C>A) c.*165C>A (n.*165C>A) c.*1879C>A (n.*1879C>A) c.3498C>A (p.Asp1166Glu) c.*3328C>A (n.*3328C>A) c.3078C>A (p.Asp1026Glu) c.252C>A (p.Asp84Glu) c.1291C>A (n.1291C>A) c.86C>A c.1154C>A c.2286C>A (p.Asp762Glu) c.3414C>A (p.Asp1138Glu) c.329C>A c.3594C>A (p.Asp1198Glu) c.3261C>A (p.Asp1087Glu) | |
7 | g.117627557C>G | CA368996131 | CFTR | c.3504C>G (p.Asp1168Glu) c.*3218C>G (n.*3218C>G) c.3321C>G (p.Asp1107Glu) c.*157C>G (n.*157C>G) c.*165C>G (n.*165C>G) c.*1879C>G (n.*1879C>G) c.3498C>G (p.Asp1166Glu) c.*3328C>G (n.*3328C>G) c.3078C>G (p.Asp1026Glu) c.252C>G (p.Asp84Glu) c.1291C>G (n.1291C>G) c.86C>G c.1154C>G c.2286C>G (p.Asp762Glu) c.3414C>G (p.Asp1138Glu) c.329C>G c.3594C>G (p.Asp1198Glu) c.3261C>G (p.Asp1087Glu) | |
7 | g.117627557C>T | CA457231179 | CFTR | c.3504C>T (p.Asp1168=) c.*3218C>T (n.*3218C>T) c.3321C>T (p.Asp1107=) c.*157C>T (n.*157C>T) c.*165C>T (n.*165C>T) c.*1879C>T (n.*1879C>T) c.3498C>T (p.Asp1166=) c.*3328C>T (n.*3328C>T) c.3078C>T (p.Asp1026=) c.252C>T (p.Asp84=) c.1291C>T (n.1291C>T) c.86C>T c.1154C>T c.2286C>T (p.Asp762=) c.3414C>T (p.Asp1138=) c.329C>T c.3594C>T (p.Asp1198=) c.3261C>T (p.Asp1087=) | ClinVar |
7 | g.117627558A= | CA1737398621 | CFTR | c.3505A= (p.Met1169=) c.*3219A= (n.*3219A=) c.3322A= (p.Met1108=) c.*158A= (n.*158A=) c.*166A= (n.*166A=) c.*1880A= (n.*1880A=) c.3499A= (p.Met1167=) c.*3329A= (n.*3329A=) c.3079A= (p.Met1027=) c.253A= (p.Met85=) c.1292A= (n.1292A=) c.87A= c.1155A= c.2287A= (p.Met763=) c.3415A= (p.Met1139=) c.330A= c.3595A= (p.Met1199=) c.3262A= (p.Met1088=) | |
7 | g.117627558A>C | CA368996133 | CFTR | c.3505A>C (p.Met1169Leu) c.*3219A>C (n.*3219A>C) c.3322A>C (p.Met1108Leu) c.*158A>C (n.*158A>C) c.*166A>C (n.*166A>C) c.*1880A>C (n.*1880A>C) c.3499A>C (p.Met1167Leu) c.*3329A>C (n.*3329A>C) c.3079A>C (p.Met1027Leu) c.253A>C (p.Met85Leu) c.1292A>C (n.1292A>C) c.87A>C c.1155A>C c.2287A>C (p.Met763Leu) c.3415A>C (p.Met1139Leu) c.330A>C c.3595A>C (p.Met1199Leu) c.3262A>C (p.Met1088Leu) | |
7 | g.117627558A>G | CA368996135 | CFTR | c.3505A>G (p.Met1169Val) c.*3219A>G (n.*3219A>G) c.3322A>G (p.Met1108Val) c.*158A>G (n.*158A>G) c.*166A>G (n.*166A>G) c.*1880A>G (n.*1880A>G) c.3499A>G (p.Met1167Val) c.*3329A>G (n.*3329A>G) c.3079A>G (p.Met1027Val) c.253A>G (p.Met85Val) c.1292A>G (n.1292A>G) c.87A>G c.1155A>G c.2287A>G (p.Met763Val) c.3415A>G (p.Met1139Val) c.330A>G c.3595A>G (p.Met1199Val) c.3262A>G (p.Met1088Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627558A>T | CA368996143 | CFTR | c.3505A>T (p.Met1169Leu) c.*3219A>T (n.*3219A>T) c.3322A>T (p.Met1108Leu) c.*158A>T (n.*158A>T) c.*166A>T (n.*166A>T) c.*1880A>T (n.*1880A>T) c.3499A>T (p.Met1167Leu) c.*3329A>T (n.*3329A>T) c.3079A>T (p.Met1027Leu) c.253A>T (p.Met85Leu) c.1292A>T (n.1292A>T) c.87A>T c.1155A>T c.2287A>T (p.Met763Leu) c.3415A>T (p.Met1139Leu) c.330A>T c.3595A>T (p.Met1199Leu) c.3262A>T (p.Met1088Leu) | gnomAD v4 |
7 | g.117627559T>A | CA368996151 | CFTR | c.3506T>A (p.Met1169Lys) c.*3220T>A (n.*3220T>A) c.3323T>A (p.Met1108Lys) c.*159T>A (n.*159T>A) c.*167T>A (n.*167T>A) c.*1881T>A (n.*1881T>A) c.3500T>A (p.Met1167Lys) c.*3330T>A (n.*3330T>A) c.3080T>A (p.Met1027Lys) c.254T>A (p.Met85Lys) c.1293T>A (n.1293T>A) c.88T>A c.1156T>A c.2288T>A (p.Met763Lys) c.3416T>A (p.Met1139Lys) c.331T>A c.3596T>A (p.Met1199Lys) c.3263T>A (p.Met1088Lys) | |
7 | g.117627559T>C | CA368996150 | CFTR | c.3506T>C (p.Met1169Thr) c.*3220T>C (n.*3220T>C) c.3323T>C (p.Met1108Thr) c.*159T>C (n.*159T>C) c.*167T>C (n.*167T>C) c.*1881T>C (n.*1881T>C) c.3500T>C (p.Met1167Thr) c.*3330T>C (n.*3330T>C) c.3080T>C (p.Met1027Thr) c.254T>C (p.Met85Thr) c.1293T>C (n.1293T>C) c.88T>C c.1156T>C c.2288T>C (p.Met763Thr) c.3416T>C (p.Met1139Thr) c.331T>C c.3596T>C (p.Met1199Thr) c.3263T>C (p.Met1088Thr) | |
7 | g.117627559T>G | CA368996147 | CFTR | c.3506T>G (p.Met1169Arg) c.*3220T>G (n.*3220T>G) c.3323T>G (p.Met1108Arg) c.*159T>G (n.*159T>G) c.*167T>G (n.*167T>G) c.*1881T>G (n.*1881T>G) c.3500T>G (p.Met1167Arg) c.*3330T>G (n.*3330T>G) c.3080T>G (p.Met1027Arg) c.254T>G (p.Met85Arg) c.1293T>G (n.1293T>G) c.88T>G c.1156T>G c.2288T>G (p.Met763Arg) c.3416T>G (p.Met1139Arg) c.331T>G c.3596T>G (p.Met1199Arg) c.3263T>G (p.Met1088Arg) | dbSNP gnomAD v2 |
7 | g.117627559T= | CA1737398622 | CFTR | c.3506T= (p.Met1169=) c.*3220T= (n.*3220T=) c.3323T= (p.Met1108=) c.*159T= (n.*159T=) c.*167T= (n.*167T=) c.*1881T= (n.*1881T=) c.3500T= (p.Met1167=) c.*3330T= (n.*3330T=) c.3080T= (p.Met1027=) c.254T= (p.Met85=) c.1293T= (n.1293T=) c.88T= c.1156T= c.2288T= (p.Met763=) c.3416T= (p.Met1139=) c.331T= c.3596T= (p.Met1199=) c.3263T= (p.Met1088=) | |
7 | g.117627560G>A | CA368996155 | CFTR | c.3507G>A (p.Met1169Ile) c.*3221G>A (n.*3221G>A) c.3324G>A (p.Met1108Ile) c.*160G>A (n.*160G>A) c.*168G>A (n.*168G>A) c.*1882G>A (n.*1882G>A) c.3501G>A (p.Met1167Ile) c.*3331G>A (n.*3331G>A) c.3081G>A (p.Met1027Ile) c.255G>A (p.Met85Ile) c.1294G>A (n.1294G>A) c.89G>A c.1157G>A c.2289G>A (p.Met763Ile) c.3417G>A (p.Met1139Ile) c.332G>A c.3597G>A (p.Met1199Ile) c.3264G>A (p.Met1088Ile) | |
7 | g.117627560G>C | CA368996157 | CFTR | c.3507G>C (p.Met1169Ile) c.*3221G>C (n.*3221G>C) c.3324G>C (p.Met1108Ile) c.*160G>C (n.*160G>C) c.*168G>C (n.*168G>C) c.*1882G>C (n.*1882G>C) c.3501G>C (p.Met1167Ile) c.*3331G>C (n.*3331G>C) c.3081G>C (p.Met1027Ile) c.255G>C (p.Met85Ile) c.1294G>C (n.1294G>C) c.89G>C c.1157G>C c.2289G>C (p.Met763Ile) c.3417G>C (p.Met1139Ile) c.332G>C c.3597G>C (p.Met1199Ile) c.3264G>C (p.Met1088Ile) | |
7 | g.117627560G>T | CA368996159 | CFTR | c.3507G>T (p.Met1169Ile) c.*3221G>T (n.*3221G>T) c.3324G>T (p.Met1108Ile) c.*160G>T (n.*160G>T) c.*168G>T (n.*168G>T) c.*1882G>T (n.*1882G>T) c.3501G>T (p.Met1167Ile) c.*3331G>T (n.*3331G>T) c.3081G>T (p.Met1027Ile) c.255G>T (p.Met85Ile) c.1294G>T (n.1294G>T) c.89G>T c.1157G>T c.2289G>T (p.Met763Ile) c.3417G>T (p.Met1139Ile) c.332G>T c.3597G>T (p.Met1199Ile) c.3264G>T (p.Met1088Ile) | gnomAD v4 |
7 | g.117627561C>A | CA368996164 | CFTR | c.3508C>A (p.Pro1170Thr) c.*3222C>A (n.*3222C>A) c.3325C>A (p.Pro1109Thr) c.*161C>A (n.*161C>A) c.*169C>A (n.*169C>A) c.*1883C>A (n.*1883C>A) c.3502C>A (p.Pro1168Thr) c.*3332C>A (n.*3332C>A) c.3082C>A (p.Pro1028Thr) c.256C>A (p.Pro86Thr) c.1295C>A (n.1295C>A) c.90C>A c.1158C>A c.2290C>A (p.Pro764Thr) c.3418C>A (p.Pro1140Thr) c.333C>A c.3598C>A (p.Pro1200Thr) c.3265C>A (p.Pro1089Thr) | gnomAD v4 |
7 | g.117627561C= | CA1737398623 | CFTR | c.3508C= (p.Pro1170=) c.*3222C= (n.*3222C=) c.3325C= (p.Pro1109=) c.*161C= (n.*161C=) c.*169C= (n.*169C=) c.*1883C= (n.*1883C=) c.3502C= (p.Pro1168=) c.*3332C= (n.*3332C=) c.3082C= (p.Pro1028=) c.256C= (p.Pro86=) c.1295C= (n.1295C=) c.90C= c.1158C= c.2290C= (p.Pro764=) c.3418C= (p.Pro1140=) c.333C= c.3598C= (p.Pro1200=) c.3265C= (p.Pro1089=) | |
7 | g.117627561C>G | CA368996167 | CFTR | c.3508C>G (p.Pro1170Ala) c.*3222C>G (n.*3222C>G) c.3325C>G (p.Pro1109Ala) c.*161C>G (n.*161C>G) c.*169C>G (n.*169C>G) c.*1883C>G (n.*1883C>G) c.3502C>G (p.Pro1168Ala) c.*3332C>G (n.*3332C>G) c.3082C>G (p.Pro1028Ala) c.256C>G (p.Pro86Ala) c.1295C>G (n.1295C>G) c.90C>G c.1158C>G c.2290C>G (p.Pro764Ala) c.3418C>G (p.Pro1140Ala) c.333C>G c.3598C>G (p.Pro1200Ala) c.3265C>G (p.Pro1089Ala) | |
7 | g.117627561C>T | CA368996169 | CFTR | c.3508C>T (p.Pro1170Ser) c.*3222C>T (n.*3222C>T) c.3325C>T (p.Pro1109Ser) c.*161C>T (n.*161C>T) c.*169C>T (n.*169C>T) c.*1883C>T (n.*1883C>T) c.3502C>T (p.Pro1168Ser) c.*3332C>T (n.*3332C>T) c.3082C>T (p.Pro1028Ser) c.256C>T (p.Pro86Ser) c.1295C>T (n.1295C>T) c.90C>T c.1158C>T c.2290C>T (p.Pro764Ser) c.3418C>T (p.Pro1140Ser) c.333C>T c.3598C>T (p.Pro1200Ser) c.3265C>T (p.Pro1089Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.117627562C>A | CA368996173 | CFTR | c.3509C>A (p.Pro1170Gln) c.*3223C>A (n.*3223C>A) c.3326C>A (p.Pro1109Gln) c.*162C>A (n.*162C>A) c.*170C>A (n.*170C>A) c.*1884C>A (n.*1884C>A) c.3503C>A (p.Pro1168Gln) c.*3333C>A (n.*3333C>A) c.3083C>A (p.Pro1028Gln) c.257C>A (p.Pro86Gln) c.1296C>A (n.1296C>A) c.91C>A c.1159C>A c.2291C>A (p.Pro764Gln) c.3419C>A (p.Pro1140Gln) c.334C>A c.3599C>A (p.Pro1200Gln) c.3266C>A (p.Pro1089Gln) | |
7 | g.117627562C= | CA1737398624 | CFTR | c.3509C= (p.Pro1170=) c.*3223C= (n.*3223C=) c.3326C= (p.Pro1109=) c.*162C= (n.*162C=) c.*170C= (n.*170C=) c.*1884C= (n.*1884C=) c.3503C= (p.Pro1168=) c.*3333C= (n.*3333C=) c.3083C= (p.Pro1028=) c.257C= (p.Pro86=) c.1296C= (n.1296C=) c.91C= c.1159C= c.2291C= (p.Pro764=) c.3419C= (p.Pro1140=) c.334C= c.3599C= (p.Pro1200=) c.3266C= (p.Pro1089=) | |
7 | g.117627562C>G | CA368996177 | CFTR | c.3509C>G (p.Pro1170Arg) c.*3223C>G (n.*3223C>G) c.3326C>G (p.Pro1109Arg) c.*162C>G (n.*162C>G) c.*170C>G (n.*170C>G) c.*1884C>G (n.*1884C>G) c.3503C>G (p.Pro1168Arg) c.*3333C>G (n.*3333C>G) c.3083C>G (p.Pro1028Arg) c.257C>G (p.Pro86Arg) c.1296C>G (n.1296C>G) c.91C>G c.1159C>G c.2291C>G (p.Pro764Arg) c.3419C>G (p.Pro1140Arg) c.334C>G c.3599C>G (p.Pro1200Arg) c.3266C>G (p.Pro1089Arg) | dbSNP |
7 | g.117627562C>T | CA368996175 | CFTR | c.3509C>T (p.Pro1170Leu) c.*3223C>T (n.*3223C>T) c.3326C>T (p.Pro1109Leu) c.*162C>T (n.*162C>T) c.*170C>T (n.*170C>T) c.*1884C>T (n.*1884C>T) c.3503C>T (p.Pro1168Leu) c.*3333C>T (n.*3333C>T) c.3083C>T (p.Pro1028Leu) c.257C>T (p.Pro86Leu) c.1296C>T (n.1296C>T) c.91C>T c.1159C>T c.2291C>T (p.Pro764Leu) c.3419C>T (p.Pro1140Leu) c.334C>T c.3599C>T (p.Pro1200Leu) c.3266C>T (p.Pro1089Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627563A>C | CA457231183 | CFTR | c.3510A>C (p.Pro1170=) c.*3224A>C (n.*3224A>C) c.3327A>C (p.Pro1109=) c.*163A>C (n.*163A>C) c.*171A>C (n.*171A>C) c.*1885A>C (n.*1885A>C) c.3504A>C (p.Pro1168=) c.*3334A>C (n.*3334A>C) c.3084A>C (p.Pro1028=) c.258A>C (p.Pro86=) c.1297A>C (n.1297A>C) c.92A>C c.1160A>C c.2292A>C (p.Pro764=) c.3420A>C (p.Pro1140=) c.335A>C c.3600A>C (p.Pro1200=) c.3267A>C (p.Pro1089=) | |
7 | g.117627563A>G | CA457231184 | CFTR | c.3510A>G (p.Pro1170=) c.*3224A>G (n.*3224A>G) c.3327A>G (p.Pro1109=) c.*163A>G (n.*163A>G) c.*171A>G (n.*171A>G) c.*1885A>G (n.*1885A>G) c.3504A>G (p.Pro1168=) c.*3334A>G (n.*3334A>G) c.3084A>G (p.Pro1028=) c.258A>G (p.Pro86=) c.1297A>G (n.1297A>G) c.92A>G c.1160A>G c.2292A>G (p.Pro764=) c.3420A>G (p.Pro1140=) c.335A>G c.3600A>G (p.Pro1200=) c.3267A>G (p.Pro1089=) | |
7 | g.117627563A>T | CA457231185 | CFTR | c.3510A>T (p.Pro1170=) c.*3224A>T (n.*3224A>T) c.3327A>T (p.Pro1109=) c.*163A>T (n.*163A>T) c.*171A>T (n.*171A>T) c.*1885A>T (n.*1885A>T) c.3504A>T (p.Pro1168=) c.*3334A>T (n.*3334A>T) c.3084A>T (p.Pro1028=) c.258A>T (p.Pro86=) c.1297A>T (n.1297A>T) c.92A>T c.1160A>T c.2292A>T (p.Pro764=) c.3420A>T (p.Pro1140=) c.335A>T c.3600A>T (p.Pro1200=) c.3267A>T (p.Pro1089=) | |
7 | g.117627564A= | CA1737398625 | CFTR | c.3511A= (p.Thr1171=) c.*3225A= (n.*3225A=) c.3328A= (p.Thr1110=) c.*164A= (n.*164A=) c.*172A= (n.*172A=) c.*1886A= (n.*1886A=) c.3505A= (p.Thr1169=) c.*3335A= (n.*3335A=) c.3085A= (p.Thr1029=) c.259A= (p.Thr87=) c.1298A= (n.1298A=) c.93A= c.1161A= c.2293A= (p.Thr765=) c.3421A= (p.Thr1141=) c.336A= c.3601A= (p.Thr1201=) c.3268A= (p.Thr1090=) | |
7 | g.117627564A>C | CA368996180 | CFTR | c.3511A>C (p.Thr1171Pro) c.*3225A>C (n.*3225A>C) c.3328A>C (p.Thr1110Pro) c.*164A>C (n.*164A>C) c.*172A>C (n.*172A>C) c.*1886A>C (n.*1886A>C) c.3505A>C (p.Thr1169Pro) c.*3335A>C (n.*3335A>C) c.3085A>C (p.Thr1029Pro) c.259A>C (p.Thr87Pro) c.1298A>C (n.1298A>C) c.93A>C c.1161A>C c.2293A>C (p.Thr765Pro) c.3421A>C (p.Thr1141Pro) c.336A>C c.3601A>C (p.Thr1201Pro) c.3268A>C (p.Thr1090Pro) | gnomAD v4 |
7 | g.117627564A>G | CA4451488 | CFTR | c.3511A>G (p.Thr1171Ala) c.*3225A>G (n.*3225A>G) c.3328A>G (p.Thr1110Ala) c.*164A>G (n.*164A>G) c.*172A>G (n.*172A>G) c.*1886A>G (n.*1886A>G) c.3505A>G (p.Thr1169Ala) c.*3335A>G (n.*3335A>G) c.3085A>G (p.Thr1029Ala) c.259A>G (p.Thr87Ala) c.1298A>G (n.1298A>G) c.93A>G c.1161A>G c.2293A>G (p.Thr765Ala) c.3421A>G (p.Thr1141Ala) c.336A>G c.3601A>G (p.Thr1201Ala) c.3268A>G (p.Thr1090Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627564A>T | CA368996184 | CFTR | c.3511A>T (p.Thr1171Ser) c.*3225A>T (n.*3225A>T) c.3328A>T (p.Thr1110Ser) c.*164A>T (n.*164A>T) c.*172A>T (n.*172A>T) c.*1886A>T (n.*1886A>T) c.3505A>T (p.Thr1169Ser) c.*3335A>T (n.*3335A>T) c.3085A>T (p.Thr1029Ser) c.259A>T (p.Thr87Ser) c.1298A>T (n.1298A>T) c.93A>T c.1161A>T c.2293A>T (p.Thr765Ser) c.3421A>T (p.Thr1141Ser) c.336A>T c.3601A>T (p.Thr1201Ser) c.3268A>T (p.Thr1090Ser) | |
7 | g.117627565C>A | CA368996186 | CFTR | c.3512C>A (p.Thr1171Lys) c.*3226C>A (n.*3226C>A) c.3329C>A (p.Thr1110Lys) c.*165C>A (n.*165C>A) c.*173C>A (n.*173C>A) c.*1887C>A (n.*1887C>A) c.3506C>A (p.Thr1169Lys) c.*3336C>A (n.*3336C>A) c.3086C>A (p.Thr1029Lys) c.260C>A (p.Thr87Lys) c.1299C>A (n.1299C>A) c.94C>A c.1162C>A c.2294C>A (p.Thr765Lys) c.3422C>A (p.Thr1141Lys) c.337C>A c.3602C>A (p.Thr1201Lys) c.3269C>A (p.Thr1090Lys) | |
7 | g.117627565C>G | CA368996188 | CFTR | c.3512C>G (p.Thr1171Arg) c.*3226C>G (n.*3226C>G) c.3329C>G (p.Thr1110Arg) c.*165C>G (n.*165C>G) c.*173C>G (n.*173C>G) c.*1887C>G (n.*1887C>G) c.3506C>G (p.Thr1169Arg) c.*3336C>G (n.*3336C>G) c.3086C>G (p.Thr1029Arg) c.260C>G (p.Thr87Arg) c.1299C>G (n.1299C>G) c.94C>G c.1162C>G c.2294C>G (p.Thr765Arg) c.3422C>G (p.Thr1141Arg) c.337C>G c.3602C>G (p.Thr1201Arg) c.3269C>G (p.Thr1090Arg) | |
7 | g.117627565C>T | CA368996190 | CFTR | c.3512C>T (p.Thr1171Ile) c.*3226C>T (n.*3226C>T) c.3329C>T (p.Thr1110Ile) c.*165C>T (n.*165C>T) c.*173C>T (n.*173C>T) c.*1887C>T (n.*1887C>T) c.3506C>T (p.Thr1169Ile) c.*3336C>T (n.*3336C>T) c.3086C>T (p.Thr1029Ile) c.260C>T (p.Thr87Ile) c.1299C>T (n.1299C>T) c.94C>T c.1162C>T c.2294C>T (p.Thr765Ile) c.3422C>T (p.Thr1141Ile) c.337C>T c.3602C>T (p.Thr1201Ile) c.3269C>T (p.Thr1090Ile) | |
7 | g.117627566A>C | CA457231186 | CFTR | c.3513A>C (p.Thr1171=) c.*3227A>C (n.*3227A>C) c.3330A>C (p.Thr1110=) c.*166A>C (n.*166A>C) c.*174A>C (n.*174A>C) c.*1888A>C (n.*1888A>C) c.3507A>C (p.Thr1169=) c.*3337A>C (n.*3337A>C) c.3087A>C (p.Thr1029=) c.261A>C (p.Thr87=) c.1300A>C (n.1300A>C) c.95A>C c.1163A>C c.2295A>C (p.Thr765=) c.3423A>C (p.Thr1141=) c.338A>C c.3603A>C (p.Thr1201=) c.3270A>C (p.Thr1090=) | ClinVar |
7 | g.117627566A>G | CA457231187 | CFTR | c.3513A>G (p.Thr1171=) c.*3227A>G (n.*3227A>G) c.3330A>G (p.Thr1110=) c.*166A>G (n.*166A>G) c.*174A>G (n.*174A>G) c.*1888A>G (n.*1888A>G) c.3507A>G (p.Thr1169=) c.*3337A>G (n.*3337A>G) c.3087A>G (p.Thr1029=) c.261A>G (p.Thr87=) c.1300A>G (n.1300A>G) c.95A>G c.1163A>G c.2295A>G (p.Thr765=) c.3423A>G (p.Thr1141=) c.338A>G c.3603A>G (p.Thr1201=) c.3270A>G (p.Thr1090=) | gnomAD v4 |
7 | g.117627566A>T | CA457231188 | CFTR | c.3513A>T (p.Thr1171=) c.*3227A>T (n.*3227A>T) c.3330A>T (p.Thr1110=) c.*166A>T (n.*166A>T) c.*174A>T (n.*174A>T) c.*1888A>T (n.*1888A>T) c.3507A>T (p.Thr1169=) c.*3337A>T (n.*3337A>T) c.3087A>T (p.Thr1029=) c.261A>T (p.Thr87=) c.1300A>T (n.1300A>T) c.95A>T c.1163A>T c.2295A>T (p.Thr765=) c.3423A>T (p.Thr1141=) c.338A>T c.3603A>T (p.Thr1201=) c.3270A>T (p.Thr1090=) | |
7 | g.117627567G>A | CA368996192 | CFTR | c.3514G>A (p.Glu1172Lys) c.*3228G>A (n.*3228G>A) c.3331G>A (p.Glu1111Lys) c.*167G>A (n.*167G>A) c.*175G>A (n.*175G>A) c.*1889G>A (n.*1889G>A) c.3508G>A (p.Glu1170Lys) c.*3338G>A (n.*3338G>A) c.3088G>A (p.Glu1030Lys) c.262G>A (p.Glu88Lys) c.1301G>A (n.1301G>A) c.96G>A c.1164G>A c.2296G>A (p.Glu766Lys) c.3424G>A (p.Glu1142Lys) c.339G>A c.3604G>A (p.Glu1202Lys) c.3271G>A (p.Glu1091Lys) | COSMIC |
7 | g.117627567G>C | CA368996194 | CFTR | c.3514G>C (p.Glu1172Gln) c.*3228G>C (n.*3228G>C) c.3331G>C (p.Glu1111Gln) c.*167G>C (n.*167G>C) c.*175G>C (n.*175G>C) c.*1889G>C (n.*1889G>C) c.3508G>C (p.Glu1170Gln) c.*3338G>C (n.*3338G>C) c.3088G>C (p.Glu1030Gln) c.262G>C (p.Glu88Gln) c.1301G>C (n.1301G>C) c.96G>C c.1164G>C c.2296G>C (p.Glu766Gln) c.3424G>C (p.Glu1142Gln) c.339G>C c.3604G>C (p.Glu1202Gln) c.3271G>C (p.Glu1091Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117627567G= | CA1737398626 | CFTR | c.3514G= (p.Glu1172=) c.*3228G= (n.*3228G=) c.3331G= (p.Glu1111=) c.*167G= (n.*167G=) c.*175G= (n.*175G=) c.*1889G= (n.*1889G=) c.3508G= (p.Glu1170=) c.*3338G= (n.*3338G=) c.3088G= (p.Glu1030=) c.262G= (p.Glu88=) c.1301G= (n.1301G=) c.96G= c.1164G= c.2296G= (p.Glu766=) c.3424G= (p.Glu1142=) c.339G= c.3604G= (p.Glu1202=) c.3271G= (p.Glu1091=) | |
7 | g.117627567G>T | CA368996196 | CFTR | c.3514G>T (p.Glu1172Ter) c.*3228G>T (n.*3228G>T) c.3331G>T (p.Glu1111Ter) c.*167G>T (n.*167G>T) c.*175G>T (n.*175G>T) c.*1889G>T (n.*1889G>T) c.3508G>T (p.Glu1170Ter) c.*3338G>T (n.*3338G>T) c.3088G>T (p.Glu1030Ter) c.262G>T (p.Glu88Ter) c.1301G>T (n.1301G>T) c.96G>T c.1164G>T c.2296G>T (p.Glu766Ter) c.3424G>T (p.Glu1142Ter) c.339G>T c.3604G>T (p.Glu1202Ter) c.3271G>T (p.Glu1091Ter) | |
7 | g.117627568A>C | CA368996197 | CFTR | c.3515A>C (p.Glu1172Ala) c.*3229A>C (n.*3229A>C) c.3332A>C (p.Glu1111Ala) c.*168A>C (n.*168A>C) c.*176A>C (n.*176A>C) c.*1890A>C (n.*1890A>C) c.3509A>C (p.Glu1170Ala) c.*3339A>C (n.*3339A>C) c.3089A>C (p.Glu1030Ala) c.263A>C (p.Glu88Ala) c.1302A>C (n.1302A>C) c.97A>C c.1165A>C c.2297A>C (p.Glu766Ala) c.3425A>C (p.Glu1142Ala) c.340A>C c.3605A>C (p.Glu1202Ala) c.3272A>C (p.Glu1091Ala) | |
7 | g.117627568A>G | CA368996198 | CFTR | c.3515A>G (p.Glu1172Gly) c.*3229A>G (n.*3229A>G) c.3332A>G (p.Glu1111Gly) c.*168A>G (n.*168A>G) c.*176A>G (n.*176A>G) c.*1890A>G (n.*1890A>G) c.3509A>G (p.Glu1170Gly) c.*3339A>G (n.*3339A>G) c.3089A>G (p.Glu1030Gly) c.263A>G (p.Glu88Gly) c.1302A>G (n.1302A>G) c.97A>G c.1165A>G c.2297A>G (p.Glu766Gly) c.3425A>G (p.Glu1142Gly) c.340A>G c.3605A>G (p.Glu1202Gly) c.3272A>G (p.Glu1091Gly) | |
7 | g.117627568A>T | CA368996201 | CFTR | c.3515A>T (p.Glu1172Val) c.*3229A>T (n.*3229A>T) c.3332A>T (p.Glu1111Val) c.*168A>T (n.*168A>T) c.*176A>T (n.*176A>T) c.*1890A>T (n.*1890A>T) c.3509A>T (p.Glu1170Val) c.*3339A>T (n.*3339A>T) c.3089A>T (p.Glu1030Val) c.263A>T (p.Glu88Val) c.1302A>T (n.1302A>T) c.97A>T c.1165A>T c.2297A>T (p.Glu766Val) c.3425A>T (p.Glu1142Val) c.340A>T c.3605A>T (p.Glu1202Val) c.3272A>T (p.Glu1091Val) | |
7 | g.117627569A>C | CA368996204 | CFTR | c.3516A>C (p.Glu1172Asp) c.*3230A>C (n.*3230A>C) c.3333A>C (p.Glu1111Asp) c.*169A>C (n.*169A>C) c.*177A>C (n.*177A>C) c.*1891A>C (n.*1891A>C) c.3510A>C (p.Glu1170Asp) c.*3340A>C (n.*3340A>C) c.3090A>C (p.Glu1030Asp) c.264A>C (p.Glu88Asp) c.1303A>C (n.1303A>C) c.98A>C c.1166A>C c.2298A>C (p.Glu766Asp) c.3426A>C (p.Glu1142Asp) c.341A>C c.3606A>C (p.Glu1202Asp) c.3273A>C (p.Glu1091Asp) | |
7 | g.117627569A>G | CA457231189 | CFTR | c.3516A>G (p.Glu1172=) c.*3230A>G (n.*3230A>G) c.3333A>G (p.Glu1111=) c.*169A>G (n.*169A>G) c.*177A>G (n.*177A>G) c.*1891A>G (n.*1891A>G) c.3510A>G (p.Glu1170=) c.*3340A>G (n.*3340A>G) c.3090A>G (p.Glu1030=) c.264A>G (p.Glu88=) c.1303A>G (n.1303A>G) c.98A>G c.1166A>G c.2298A>G (p.Glu766=) c.3426A>G (p.Glu1142=) c.341A>G c.3606A>G (p.Glu1202=) c.3273A>G (p.Glu1091=) | |
7 | g.117627569A>T | CA368996203 | CFTR | c.3516A>T (p.Glu1172Asp) c.*3230A>T (n.*3230A>T) c.3333A>T (p.Glu1111Asp) c.*169A>T (n.*169A>T) c.*177A>T (n.*177A>T) c.*1891A>T (n.*1891A>T) c.3510A>T (p.Glu1170Asp) c.*3340A>T (n.*3340A>T) c.3090A>T (p.Glu1030Asp) c.264A>T (p.Glu88Asp) c.1303A>T (n.1303A>T) c.98A>T c.1166A>T c.2298A>T (p.Glu766Asp) c.3426A>T (p.Glu1142Asp) c.341A>T c.3606A>T (p.Glu1202Asp) c.3273A>T (p.Glu1091Asp) | |
7 | g.117627570G>A | CA4451489 | CFTR | c.3517G>A (p.Gly1173Ser) c.*3231G>A (n.*3231G>A) c.3334G>A (p.Gly1112Ser) c.*170G>A (n.*170G>A) c.*178G>A (n.*178G>A) c.*1892G>A (n.*1892G>A) c.3511G>A (p.Gly1171Ser) c.*3341G>A (n.*3341G>A) c.3091G>A (p.Gly1031Ser) c.265G>A (p.Gly89Ser) c.1304G>A (n.1304G>A) c.99G>A c.1167G>A c.2299G>A (p.Gly767Ser) c.3427G>A (p.Gly1143Ser) c.342G>A c.3607G>A (p.Gly1203Ser) c.3274G>A (p.Gly1092Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627570G>C | CA368996208 | CFTR | c.3517G>C (p.Gly1173Arg) c.*3231G>C (n.*3231G>C) c.3334G>C (p.Gly1112Arg) c.*170G>C (n.*170G>C) c.*178G>C (n.*178G>C) c.*1892G>C (n.*1892G>C) c.3511G>C (p.Gly1171Arg) c.*3341G>C (n.*3341G>C) c.3091G>C (p.Gly1031Arg) c.265G>C (p.Gly89Arg) c.1304G>C (n.1304G>C) c.99G>C c.1167G>C c.2299G>C (p.Gly767Arg) c.3427G>C (p.Gly1143Arg) c.342G>C c.3607G>C (p.Gly1203Arg) c.3274G>C (p.Gly1092Arg) | dbSNP |
7 | g.117627570G= | CA1737398627 | CFTR | c.3517G= (p.Gly1173=) c.*3231G= (n.*3231G=) c.3334G= (p.Gly1112=) c.*170G= (n.*170G=) c.*178G= (n.*178G=) c.*1892G= (n.*1892G=) c.3511G= (p.Gly1171=) c.*3341G= (n.*3341G=) c.3091G= (p.Gly1031=) c.265G= (p.Gly89=) c.1304G= (n.1304G=) c.99G= c.1167G= c.2299G= (p.Gly767=) c.3427G= (p.Gly1143=) c.342G= c.3607G= (p.Gly1203=) c.3274G= (p.Gly1092=) | |
7 | g.117627570G>T | CA368996206 | CFTR | c.3517G>T (p.Gly1173Cys) c.*3231G>T (n.*3231G>T) c.3334G>T (p.Gly1112Cys) c.*170G>T (n.*170G>T) c.*178G>T (n.*178G>T) c.*1892G>T (n.*1892G>T) c.3511G>T (p.Gly1171Cys) c.*3341G>T (n.*3341G>T) c.3091G>T (p.Gly1031Cys) c.265G>T (p.Gly89Cys) c.1304G>T (n.1304G>T) c.99G>T c.1167G>T c.2299G>T (p.Gly767Cys) c.3427G>T (p.Gly1143Cys) c.342G>T c.3607G>T (p.Gly1203Cys) c.3274G>T (p.Gly1092Cys) | dbSNP |
7 | g.117627571G>A | CA368996209 | CFTR | c.3517+1G>A (n.3517+1G>A) c.*3232G>A (n.*3232G>A) c.3335G>A (p.Gly1112Asp) c.3518G>A (p.Gly1173Asp) c.*171G>A (n.*171G>A) c.*179G>A (n.*179G>A) c.*1893G>A (n.*1893G>A) c.3512G>A (p.Gly1171Asp) c.*3342G>A (n.*3342G>A) c.3092G>A (p.Gly1031Asp) c.266G>A (p.Gly89Asp) c.1305G>A (n.1305G>A) c.100G>A c.1167+1G>A c.2300G>A (p.Gly767Asp) c.3428G>A (p.Gly1143Asp) c.343G>A c.3608G>A (p.Gly1203Asp) c.3275G>A (p.Gly1092Asp) | ClinVar gnomAD v4 |
7 | g.117627571G>C | CA368996212 | CFTR | c.3517+1G>C (n.3517+1G>C) c.*3232G>C (n.*3232G>C) c.3335G>C (p.Gly1112Ala) c.3518G>C (p.Gly1173Ala) c.*171G>C (n.*171G>C) c.*179G>C (n.*179G>C) c.*1893G>C (n.*1893G>C) c.3512G>C (p.Gly1171Ala) c.*3342G>C (n.*3342G>C) c.3092G>C (p.Gly1031Ala) c.266G>C (p.Gly89Ala) c.1305G>C (n.1305G>C) c.100G>C c.1167+1G>C c.2300G>C (p.Gly767Ala) c.3428G>C (p.Gly1143Ala) c.343G>C c.3608G>C (p.Gly1203Ala) c.3275G>C (p.Gly1092Ala) | |
7 | g.117627571G>T | CA368996210 | CFTR | c.3517+1G>T (n.3517+1G>T) c.*3232G>T (n.*3232G>T) c.3335G>T (p.Gly1112Val) c.3518G>T (p.Gly1173Val) c.*171G>T (n.*171G>T) c.*179G>T (n.*179G>T) c.*1893G>T (n.*1893G>T) c.3512G>T (p.Gly1171Val) c.*3342G>T (n.*3342G>T) c.3092G>T (p.Gly1031Val) c.266G>T (p.Gly89Val) c.1305G>T (n.1305G>T) c.100G>T c.1167+1G>T c.2300G>T (p.Gly767Val) c.3428G>T (p.Gly1143Val) c.343G>T c.3608G>T (p.Gly1203Val) c.3275G>T (p.Gly1092Val) | |
7 | g.117627572T>A | CA457231190 | CFTR | c.3517+2T>A (n.3517+2T>A) c.*3233T>A (n.*3233T>A) c.3336T>A (p.Gly1112=) c.3519T>A (p.Gly1173=) c.*172T>A (n.*172T>A) c.*180T>A (n.*180T>A) c.*1894T>A (n.*1894T>A) c.3513T>A (p.Gly1171=) c.*3343T>A (n.*3343T>A) c.3093T>A (p.Gly1031=) c.267T>A (p.Gly89=) c.1306T>A (n.1306T>A) c.101T>A c.1167+2T>A c.2301T>A (p.Gly767=) c.3429T>A (p.Gly1143=) c.344T>A c.3609T>A (p.Gly1203=) c.3276T>A (p.Gly1092=) | |
7 | g.117627572T>C | CA457231191 | CFTR | c.3517+2T>C (n.3517+2T>C) c.*3233T>C (n.*3233T>C) c.3336T>C (p.Gly1112=) c.3519T>C (p.Gly1173=) c.*172T>C (n.*172T>C) c.*180T>C (n.*180T>C) c.*1894T>C (n.*1894T>C) c.3513T>C (p.Gly1171=) c.*3343T>C (n.*3343T>C) c.3093T>C (p.Gly1031=) c.267T>C (p.Gly89=) c.1306T>C (n.1306T>C) c.101T>C c.1167+2T>C c.2301T>C (p.Gly767=) c.3429T>C (p.Gly1143=) c.344T>C c.3609T>C (p.Gly1203=) c.3276T>C (p.Gly1092=) | |
7 | g.117627572T>G | CA457231192 | CFTR | c.3517+2T>G (n.3517+2T>G) c.*3233T>G (n.*3233T>G) c.3336T>G (p.Gly1112=) c.3519T>G (p.Gly1173=) c.*172T>G (n.*172T>G) c.*180T>G (n.*180T>G) c.*1894T>G (n.*1894T>G) c.3513T>G (p.Gly1171=) c.*3343T>G (n.*3343T>G) c.3093T>G (p.Gly1031=) c.267T>G (p.Gly89=) c.1306T>G (n.1306T>G) c.101T>G c.1167+2T>G c.2301T>G (p.Gly767=) c.3429T>G (p.Gly1143=) c.344T>G c.3609T>G (p.Gly1203=) c.3276T>G (p.Gly1092=) | |
7 | g.117627573A>C | CA368996215 | CFTR | c.3517+3A>C (n.3517+3A>C) c.*3234A>C (n.*3234A>C) c.3337A>C (p.Lys1113Gln) c.3520A>C (p.Lys1174Gln) c.*173A>C (n.*173A>C) c.*181A>C (n.*181A>C) c.*1895A>C (n.*1895A>C) c.3514A>C (p.Lys1172Gln) c.*3344A>C (n.*3344A>C) c.3094A>C (p.Lys1032Gln) c.268A>C (p.Lys90Gln) c.1307A>C (n.1307A>C) c.102A>C c.1167+3A>C c.2302A>C (p.Lys768Gln) c.3430A>C (p.Lys1144Gln) c.345A>C c.3610A>C (p.Lys1204Gln) c.3277A>C (p.Lys1093Gln) | |
7 | g.117627573A>G | CA368996217 | CFTR | c.3517+3A>G (n.3517+3A>G) c.*3234A>G (n.*3234A>G) c.3337A>G (p.Lys1113Glu) c.3520A>G (p.Lys1174Glu) c.*173A>G (n.*173A>G) c.*181A>G (n.*181A>G) c.*1895A>G (n.*1895A>G) c.3514A>G (p.Lys1172Glu) c.*3344A>G (n.*3344A>G) c.3094A>G (p.Lys1032Glu) c.268A>G (p.Lys90Glu) c.1307A>G (n.1307A>G) c.102A>G c.1167+3A>G c.2302A>G (p.Lys768Glu) c.3430A>G (p.Lys1144Glu) c.345A>G c.3610A>G (p.Lys1204Glu) c.3277A>G (p.Lys1093Glu) | |
7 | g.117627573A>T | CA368996218 | CFTR | c.3517+3A>T (n.3517+3A>T) c.*3234A>T (n.*3234A>T) c.3337A>T (p.Lys1113Ter) c.3520A>T (p.Lys1174Ter) c.*173A>T (n.*173A>T) c.*181A>T (n.*181A>T) c.*1895A>T (n.*1895A>T) c.3514A>T (p.Lys1172Ter) c.*3344A>T (n.*3344A>T) c.3094A>T (p.Lys1032Ter) c.268A>T (p.Lys90Ter) c.1307A>T (n.1307A>T) c.102A>T c.1167+3A>T c.2302A>T (p.Lys768Ter) c.3430A>T (p.Lys1144Ter) c.345A>T c.3610A>T (p.Lys1204Ter) c.3277A>T (p.Lys1093Ter) | |
7 | g.117627574A= | CA1737398628 | CFTR | c.3517+4A= (n.3517+4A=) c.*3235A= (n.*3235A=) c.3338A= (p.Lys1113=) c.3521A= (p.Lys1174=) c.*174A= (n.*174A=) c.*182A= (n.*182A=) c.*1896A= (n.*1896A=) c.3515A= (p.Lys1172=) c.*3345A= (n.*3345A=) c.3095A= (p.Lys1032=) c.269A= (p.Lys90=) c.1308A= (n.1308A=) c.103A= c.1167+4A= c.2303A= (p.Lys768=) c.3431A= (p.Lys1144=) c.346A= c.3611A= (p.Lys1204=) c.3278A= (p.Lys1093=) | |
7 | g.117627574A>C | CA4451490 | CFTR | c.3517+4A>C (n.3517+4A>C) c.*3235A>C (n.*3235A>C) c.3338A>C (p.Lys1113Thr) c.3521A>C (p.Lys1174Thr) c.*174A>C (n.*174A>C) c.*182A>C (n.*182A>C) c.*1896A>C (n.*1896A>C) c.3515A>C (p.Lys1172Thr) c.*3345A>C (n.*3345A>C) c.3095A>C (p.Lys1032Thr) c.269A>C (p.Lys90Thr) c.1308A>C (n.1308A>C) c.103A>C c.1167+4A>C c.2303A>C (p.Lys768Thr) c.3431A>C (p.Lys1144Thr) c.346A>C c.3611A>C (p.Lys1204Thr) c.3278A>C (p.Lys1093Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627574A>G | CA368996221 | CFTR | c.3517+4A>G (n.3517+4A>G) c.*3235A>G (n.*3235A>G) c.3338A>G (p.Lys1113Arg) c.3521A>G (p.Lys1174Arg) c.*174A>G (n.*174A>G) c.*182A>G (n.*182A>G) c.*1896A>G (n.*1896A>G) c.3515A>G (p.Lys1172Arg) c.*3345A>G (n.*3345A>G) c.3095A>G (p.Lys1032Arg) c.269A>G (p.Lys90Arg) c.1308A>G (n.1308A>G) c.103A>G c.1167+4A>G c.2303A>G (p.Lys768Arg) c.3431A>G (p.Lys1144Arg) c.346A>G c.3611A>G (p.Lys1204Arg) c.3278A>G (p.Lys1093Arg) | |
7 | g.117627574A>T | CA368996223 | CFTR | c.3517+4A>T (n.3517+4A>T) c.*3235A>T (n.*3235A>T) c.3338A>T (p.Lys1113Ile) c.3521A>T (p.Lys1174Ile) c.*174A>T (n.*174A>T) c.*182A>T (n.*182A>T) c.*1896A>T (n.*1896A>T) c.3515A>T (p.Lys1172Ile) c.*3345A>T (n.*3345A>T) c.3095A>T (p.Lys1032Ile) c.269A>T (p.Lys90Ile) c.1308A>T (n.1308A>T) c.103A>T c.1167+4A>T c.2303A>T (p.Lys768Ile) c.3431A>T (p.Lys1144Ile) c.346A>T c.3611A>T (p.Lys1204Ile) c.3278A>T (p.Lys1093Ile) | |
7 | g.117627578_117627590del | CA2580076327 | CFTR | c.3517+8_3517+20del (n.3517+8_3517+20del) c.*3239_*3251del (n.*3239_*3251del) c.3342_3354del (p.Thr1115AsnfsTer12) c.3525_3537del (p.Thr1176AsnfsTer12) c.*178_*190del (n.*178_*190del) c.*186_*198del (n.*186_*198del) c.*1900_*1912del (n.*1900_*1912del) c.3519_3531del (p.Thr1174AsnfsTer12) c.*3349_*3361del (n.*3349_*3361del) c.3099_3111del (p.Thr1034AsnfsTer12) c.273_285del (p.Thr92AsnfsTer12) c.1312_1324del (n.1312_1324del) c.107_119del c.1167+8_1167+20del c.2307_2319del (p.Thr770AsnfsTer12) c.3435_3447del (p.Thr1146AsnfsTer12) c.350_362del c.3615_3627del (p.Thr1206AsnfsTer12) c.3282_3294del (p.Thr1095AsnfsTer12) | ClinVar |
7 | g.117627575A>C | CA368996224 | CFTR | c.3517+5A>C (n.3517+5A>C) c.*3236A>C (n.*3236A>C) c.3339A>C (p.Lys1113Asn) c.3522A>C (p.Lys1174Asn) c.*175A>C (n.*175A>C) c.*183A>C (n.*183A>C) c.*1897A>C (n.*1897A>C) c.3516A>C (p.Lys1172Asn) c.*3346A>C (n.*3346A>C) c.3096A>C (p.Lys1032Asn) c.270A>C (p.Lys90Asn) c.1309A>C (n.1309A>C) c.104A>C c.1167+5A>C c.2304A>C (p.Lys768Asn) c.3432A>C (p.Lys1144Asn) c.347A>C c.3612A>C (p.Lys1204Asn) c.3279A>C (p.Lys1093Asn) | |
7 | g.117627575A>G | CA457231193 | CFTR | c.3517+5A>G (n.3517+5A>G) c.*3236A>G (n.*3236A>G) c.3339A>G (p.Lys1113=) c.3522A>G (p.Lys1174=) c.*175A>G (n.*175A>G) c.*183A>G (n.*183A>G) c.*1897A>G (n.*1897A>G) c.3516A>G (p.Lys1172=) c.*3346A>G (n.*3346A>G) c.3096A>G (p.Lys1032=) c.270A>G (p.Lys90=) c.1309A>G (n.1309A>G) c.104A>G c.1167+5A>G c.2304A>G (p.Lys768=) c.3432A>G (p.Lys1144=) c.347A>G c.3612A>G (p.Lys1204=) c.3279A>G (p.Lys1093=) | |
7 | g.117627575A>T | CA368996226 | CFTR | c.3517+5A>T (n.3517+5A>T) c.*3236A>T (n.*3236A>T) c.3339A>T (p.Lys1113Asn) c.3522A>T (p.Lys1174Asn) c.*175A>T (n.*175A>T) c.*183A>T (n.*183A>T) c.*1897A>T (n.*1897A>T) c.3516A>T (p.Lys1172Asn) c.*3346A>T (n.*3346A>T) c.3096A>T (p.Lys1032Asn) c.270A>T (p.Lys90Asn) c.1309A>T (n.1309A>T) c.104A>T c.1167+5A>T c.2304A>T (p.Lys768Asn) c.3432A>T (p.Lys1144Asn) c.347A>T c.3612A>T (p.Lys1204Asn) c.3279A>T (p.Lys1093Asn) | |
7 | g.117627576C>A | CA368996228 | CFTR | c.3517+6C>A (n.3517+6C>A) c.*3237C>A (n.*3237C>A) c.3340C>A (p.Pro1114Thr) c.3523C>A (p.Pro1175Thr) c.*176C>A (n.*176C>A) c.*184C>A (n.*184C>A) c.*1898C>A (n.*1898C>A) c.3517C>A (p.Pro1173Thr) c.*3347C>A (n.*3347C>A) c.3097C>A (p.Pro1033Thr) c.271C>A (p.Pro91Thr) c.1310C>A (n.1310C>A) c.105C>A c.1167+6C>A c.2305C>A (p.Pro769Thr) c.3433C>A (p.Pro1145Thr) c.348C>A c.3613C>A (p.Pro1205Thr) c.3280C>A (p.Pro1094Thr) | |
7 | g.117627576C>G | CA368996229 | CFTR | c.3517+6C>G (n.3517+6C>G) c.*3237C>G (n.*3237C>G) c.3340C>G (p.Pro1114Ala) c.3523C>G (p.Pro1175Ala) c.*176C>G (n.*176C>G) c.*184C>G (n.*184C>G) c.*1898C>G (n.*1898C>G) c.3517C>G (p.Pro1173Ala) c.*3347C>G (n.*3347C>G) c.3097C>G (p.Pro1033Ala) c.271C>G (p.Pro91Ala) c.1310C>G (n.1310C>G) c.105C>G c.1167+6C>G c.2305C>G (p.Pro769Ala) c.3433C>G (p.Pro1145Ala) c.348C>G c.3613C>G (p.Pro1205Ala) c.3280C>G (p.Pro1094Ala) | |
7 | g.117627576C>T | CA368996231 | CFTR | c.3517+6C>T (n.3517+6C>T) c.*3237C>T (n.*3237C>T) c.3340C>T (p.Pro1114Ser) c.3523C>T (p.Pro1175Ser) c.*176C>T (n.*176C>T) c.*184C>T (n.*184C>T) c.*1898C>T (n.*1898C>T) c.3517C>T (p.Pro1173Ser) c.*3347C>T (n.*3347C>T) c.3097C>T (p.Pro1033Ser) c.271C>T (p.Pro91Ser) c.1310C>T (n.1310C>T) c.105C>T c.1167+6C>T c.2305C>T (p.Pro769Ser) c.3433C>T (p.Pro1145Ser) c.348C>T c.3613C>T (p.Pro1205Ser) c.3280C>T (p.Pro1094Ser) | ClinVar |
7 | g.117627577C>A | CA368996234 | CFTR | c.3517+7C>A (n.3517+7C>A) c.*3238C>A (n.*3238C>A) c.3341C>A (p.Pro1114His) c.3524C>A (p.Pro1175His) c.*177C>A (n.*177C>A) c.*185C>A (n.*185C>A) c.*1899C>A (n.*1899C>A) c.3518C>A (p.Pro1173His) c.*3348C>A (n.*3348C>A) c.3098C>A (p.Pro1033His) c.272C>A (p.Pro91His) c.1311C>A (n.1311C>A) c.106C>A c.1167+7C>A c.2306C>A (p.Pro769His) c.3434C>A (p.Pro1145His) c.349C>A c.3614C>A (p.Pro1205His) c.3281C>A (p.Pro1094His) | |
7 | g.117627577C>G | CA368996239 | CFTR | c.3517+7C>G (n.3517+7C>G) c.*3238C>G (n.*3238C>G) c.3341C>G (p.Pro1114Arg) c.3524C>G (p.Pro1175Arg) c.*177C>G (n.*177C>G) c.*185C>G (n.*185C>G) c.*1899C>G (n.*1899C>G) c.3518C>G (p.Pro1173Arg) c.*3348C>G (n.*3348C>G) c.3098C>G (p.Pro1033Arg) c.272C>G (p.Pro91Arg) c.1311C>G (n.1311C>G) c.106C>G c.1167+7C>G c.2306C>G (p.Pro769Arg) c.3434C>G (p.Pro1145Arg) c.349C>G c.3614C>G (p.Pro1205Arg) c.3281C>G (p.Pro1094Arg) | |
7 | g.117627577C>T | CA368996238 | CFTR | c.3517+7C>T (n.3517+7C>T) c.*3238C>T (n.*3238C>T) c.3341C>T (p.Pro1114Leu) c.3524C>T (p.Pro1175Leu) c.*177C>T (n.*177C>T) c.*185C>T (n.*185C>T) c.*1899C>T (n.*1899C>T) c.3518C>T (p.Pro1173Leu) c.*3348C>T (n.*3348C>T) c.3098C>T (p.Pro1033Leu) c.272C>T (p.Pro91Leu) c.1311C>T (n.1311C>T) c.106C>T c.1167+7C>T c.2306C>T (p.Pro769Leu) c.3434C>T (p.Pro1145Leu) c.349C>T c.3614C>T (p.Pro1205Leu) c.3281C>T (p.Pro1094Leu) | ClinVar |
7 | g.117627578T>A | CA457231196 | CFTR | c.3517+8T>A (n.3517+8T>A) c.*3239T>A (n.*3239T>A) c.3342T>A (p.Pro1114=) c.3525T>A (p.Pro1175=) c.*178T>A (n.*178T>A) c.*186T>A (n.*186T>A) c.*1900T>A (n.*1900T>A) c.3519T>A (p.Pro1173=) c.*3349T>A (n.*3349T>A) c.3099T>A (p.Pro1033=) c.273T>A (p.Pro91=) c.1312T>A (n.1312T>A) c.107T>A c.1167+8T>A c.2307T>A (p.Pro769=) c.3435T>A (p.Pro1145=) c.350T>A c.3615T>A (p.Pro1205=) c.3282T>A (p.Pro1094=) | |
7 | g.117627578T>C | CA457231194 | CFTR | c.3517+8T>C (n.3517+8T>C) c.*3239T>C (n.*3239T>C) c.3342T>C (p.Pro1114=) c.3525T>C (p.Pro1175=) c.*178T>C (n.*178T>C) c.*186T>C (n.*186T>C) c.*1900T>C (n.*1900T>C) c.3519T>C (p.Pro1173=) c.*3349T>C (n.*3349T>C) c.3099T>C (p.Pro1033=) c.273T>C (p.Pro91=) c.1312T>C (n.1312T>C) c.107T>C c.1167+8T>C c.2307T>C (p.Pro769=) c.3435T>C (p.Pro1145=) c.350T>C c.3615T>C (p.Pro1205=) c.3282T>C (p.Pro1094=) | |
7 | g.117627578T>G | CA457231195 | CFTR | c.3517+8T>G (n.3517+8T>G) c.*3239T>G (n.*3239T>G) c.3342T>G (p.Pro1114=) c.3525T>G (p.Pro1175=) c.*178T>G (n.*178T>G) c.*186T>G (n.*186T>G) c.*1900T>G (n.*1900T>G) c.3519T>G (p.Pro1173=) c.*3349T>G (n.*3349T>G) c.3099T>G (p.Pro1033=) c.273T>G (p.Pro91=) c.1312T>G (n.1312T>G) c.107T>G c.1167+8T>G c.2307T>G (p.Pro769=) c.3435T>G (p.Pro1145=) c.350T>G c.3615T>G (p.Pro1205=) c.3282T>G (p.Pro1094=) | |
7 | g.117627579A>C | CA368996242 | CFTR | c.3517+9A>C (n.3517+9A>C) c.*3240A>C (n.*3240A>C) c.3343A>C (p.Thr1115Pro) c.3526A>C (p.Thr1176Pro) c.*179A>C (n.*179A>C) c.*187A>C (n.*187A>C) c.*1901A>C (n.*1901A>C) c.3520A>C (p.Thr1174Pro) c.*3350A>C (n.*3350A>C) c.3100A>C (p.Thr1034Pro) c.274A>C (p.Thr92Pro) c.1313A>C (n.1313A>C) c.108A>C c.1167+9A>C c.2308A>C (p.Thr770Pro) c.3436A>C (p.Thr1146Pro) c.351A>C c.3616A>C (p.Thr1206Pro) c.3283A>C (p.Thr1095Pro) | |
7 | g.117627579A>G | CA368996244 | CFTR | c.3517+9A>G (n.3517+9A>G) c.*3240A>G (n.*3240A>G) c.3343A>G (p.Thr1115Ala) c.3526A>G (p.Thr1176Ala) c.*179A>G (n.*179A>G) c.*187A>G (n.*187A>G) c.*1901A>G (n.*1901A>G) c.3520A>G (p.Thr1174Ala) c.*3350A>G (n.*3350A>G) c.3100A>G (p.Thr1034Ala) c.274A>G (p.Thr92Ala) c.1313A>G (n.1313A>G) c.108A>G c.1167+9A>G c.2308A>G (p.Thr770Ala) c.3436A>G (p.Thr1146Ala) c.351A>G c.3616A>G (p.Thr1206Ala) c.3283A>G (p.Thr1095Ala) | |
7 | g.117627579A>T | CA368996246 | CFTR | c.3517+9A>T (n.3517+9A>T) c.*3240A>T (n.*3240A>T) c.3343A>T (p.Thr1115Ser) c.3526A>T (p.Thr1176Ser) c.*179A>T (n.*179A>T) c.*187A>T (n.*187A>T) c.*1901A>T (n.*1901A>T) c.3520A>T (p.Thr1174Ser) c.*3350A>T (n.*3350A>T) c.3100A>T (p.Thr1034Ser) c.274A>T (p.Thr92Ser) c.1313A>T (n.1313A>T) c.108A>T c.1167+9A>T c.2308A>T (p.Thr770Ser) c.3436A>T (p.Thr1146Ser) c.351A>T c.3616A>T (p.Thr1206Ser) c.3283A>T (p.Thr1095Ser) | |
7 | g.117627579_117627580delinsAC | CA1737398629 | CFTR | c.3517+9_3517+10delinsAC (n.3517+9_3517+10delinsAC) c.*3240_*3241delinsAC (n.*3240_*3241delinsAC) c.3343_3344delinsAC (p.Thr1115=) c.3526_3527delinsAC (p.Thr1176=) c.*179_*180delinsAC (n.*179_*180delinsAC) c.*187_*188delinsAC (n.*187_*188delinsAC) c.*1901_*1902delinsAC (n.*1901_*1902delinsAC) c.3520_3521delinsAC (p.Thr1174=) c.*3350_*3351delinsAC (n.*3350_*3351delinsAC) c.3100_3101delinsAC (p.Thr1034=) c.274_275delinsAC (p.Thr92=) c.1313_1314delinsAC (n.1313_1314delinsAC) c.108_109delinsAC c.1167+9_1167+10delinsAC c.2308_2309delinsAC (p.Thr770=) c.3436_3437delinsAC (p.Thr1146=) c.351_352delinsAC c.3616_3617delinsAC (p.Thr1206=) c.3283_3284delinsAC (p.Thr1095=) | |
7 | g.117627580C>A | CA368996250 | CFTR | c.3517+10C>A (n.3517+10C>A) c.*3241C>A (n.*3241C>A) c.3344C>A (p.Thr1115Asn) c.3527C>A (p.Thr1176Asn) c.*180C>A (n.*180C>A) c.*188C>A (n.*188C>A) c.*1902C>A (n.*1902C>A) c.3521C>A (p.Thr1174Asn) c.*3351C>A (n.*3351C>A) c.3101C>A (p.Thr1034Asn) c.275C>A (p.Thr92Asn) c.1314C>A (n.1314C>A) c.109C>A c.1167+10C>A c.2309C>A (p.Thr770Asn) c.3437C>A (p.Thr1146Asn) c.352C>A c.3617C>A (p.Thr1206Asn) c.3284C>A (p.Thr1095Asn) | |
7 | g.117627580C>G | CA368996252 | CFTR | c.3517+10C>G (n.3517+10C>G) c.*3241C>G (n.*3241C>G) c.3344C>G (p.Thr1115Ser) c.3527C>G (p.Thr1176Ser) c.*180C>G (n.*180C>G) c.*188C>G (n.*188C>G) c.*1902C>G (n.*1902C>G) c.3521C>G (p.Thr1174Ser) c.*3351C>G (n.*3351C>G) c.3101C>G (p.Thr1034Ser) c.275C>G (p.Thr92Ser) c.1314C>G (n.1314C>G) c.109C>G c.1167+10C>G c.2309C>G (p.Thr770Ser) c.3437C>G (p.Thr1146Ser) c.352C>G c.3617C>G (p.Thr1206Ser) c.3284C>G (p.Thr1095Ser) | ClinVar |
7 | g.117627580C>T | CA368996254 | CFTR | c.3517+10C>T (n.3517+10C>T) c.*3241C>T (n.*3241C>T) c.3344C>T (p.Thr1115Ile) c.3527C>T (p.Thr1176Ile) c.*180C>T (n.*180C>T) c.*188C>T (n.*188C>T) c.*1902C>T (n.*1902C>T) c.3521C>T (p.Thr1174Ile) c.*3351C>T (n.*3351C>T) c.3101C>T (p.Thr1034Ile) c.275C>T (p.Thr92Ile) c.1314C>T (n.1314C>T) c.109C>T c.1167+10C>T c.2309C>T (p.Thr770Ile) c.3437C>T (p.Thr1146Ile) c.352C>T c.3617C>T (p.Thr1206Ile) c.3284C>T (p.Thr1095Ile) | |
7 | g.117627581dup | CA164976506 | CFTR | c.3517+11dup (n.3517+11dup) c.*3242dup (n.*3242dup) c.3345dup (p.Lys1116GlnfsTer18) c.3528dup (p.Lys1177GlnfsTer18) c.*181dup (n.*181dup) c.*189dup (n.*189dup) c.*1903dup (n.*1903dup) c.3522dup (p.Lys1175GlnfsTer18) c.*3352dup (n.*3352dup) c.3102dup (p.Lys1035GlnfsTer18) c.276dup (p.Lys93GlnfsTer18) c.1315dup (n.1315dup) c.110dup c.1167+11dup c.2310dup (p.Lys771GlnfsTer18) c.3438dup (p.Lys1147GlnfsTer18) c.353dup c.3618dup (p.Lys1207GlnfsTer18) c.3285dup (p.Lys1096GlnfsTer18) | |
7 | g.117627581del | CA342839 | CFTR | c.3517+11del (n.3517+11del) c.*3242del (n.*3242del) c.3345del (p.Lys1116SerfsTer15) c.3528del (p.Lys1177SerfsTer15) c.*181del (n.*181del) c.*189del (n.*189del) c.*1903del (n.*1903del) c.3522del (p.Lys1175SerfsTer15) c.*3352del (n.*3352del) c.3102del (p.Lys1035SerfsTer15) c.276del (p.Lys93SerfsTer15) c.1315del (n.1315del) c.110del c.1167+11del c.2310del (p.Lys771SerfsTer15) c.3438del (p.Lys1147SerfsTer15) c.353del c.3618del (p.Lys1207SerfsTer15) c.3285del (p.Lys1096SerfsTer15) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627581C>A | CA457231197 | CFTR | c.3517+11C>A (n.3517+11C>A) c.*3242C>A (n.*3242C>A) c.3345C>A (p.Thr1115=) c.3528C>A (p.Thr1176=) c.*181C>A (n.*181C>A) c.*189C>A (n.*189C>A) c.*1903C>A (n.*1903C>A) c.3522C>A (p.Thr1174=) c.*3352C>A (n.*3352C>A) c.3102C>A (p.Thr1034=) c.276C>A (p.Thr92=) c.1315C>A (n.1315C>A) c.110C>A c.1167+11C>A c.2310C>A (p.Thr770=) c.3438C>A (p.Thr1146=) c.353C>A c.3618C>A (p.Thr1206=) c.3285C>A (p.Thr1095=) | |
7 | g.117627581C>G | CA457231198 | CFTR | c.3517+11C>G (n.3517+11C>G) c.*3242C>G (n.*3242C>G) c.3345C>G (p.Thr1115=) c.3528C>G (p.Thr1176=) c.*181C>G (n.*181C>G) c.*189C>G (n.*189C>G) c.*1903C>G (n.*1903C>G) c.3522C>G (p.Thr1174=) c.*3352C>G (n.*3352C>G) c.3102C>G (p.Thr1034=) c.276C>G (p.Thr92=) c.1315C>G (n.1315C>G) c.110C>G c.1167+11C>G c.2310C>G (p.Thr770=) c.3438C>G (p.Thr1146=) c.353C>G c.3618C>G (p.Thr1206=) c.3285C>G (p.Thr1095=) | |
7 | g.117627581C>T | CA457231199 | CFTR | c.3517+11C>T (n.3517+11C>T) c.*3242C>T (n.*3242C>T) c.3345C>T (p.Thr1115=) c.3528C>T (p.Thr1176=) c.*181C>T (n.*181C>T) c.*189C>T (n.*189C>T) c.*1903C>T (n.*1903C>T) c.3522C>T (p.Thr1174=) c.*3352C>T (n.*3352C>T) c.3102C>T (p.Thr1034=) c.276C>T (p.Thr92=) c.1315C>T (n.1315C>T) c.110C>T c.1167+11C>T c.2310C>T (p.Thr770=) c.3438C>T (p.Thr1146=) c.353C>T c.3618C>T (p.Thr1206=) c.3285C>T (p.Thr1095=) | ClinVar |
7 | g.117627581_117627582delinsCA | CA1737398630 | CFTR | c.3517+11_3517+12delinsCA (n.3517+11_3517+12delinsCA) c.*3242_*3243delinsCA (n.*3242_*3243delinsCA) c.3345_3346delinsCA (p.Thr1115=) c.3528_3529delinsCA (p.Thr1176=) c.*181_*182delinsCA (n.*181_*182delinsCA) c.*189_*190delinsCA (n.*189_*190delinsCA) c.*1903_*1904delinsCA (n.*1903_*1904delinsCA) c.3522_3523delinsCA (p.Thr1174=) c.*3352_*3353delinsCA (n.*3352_*3353delinsCA) c.3102_3103delinsCA (p.Thr1034=) c.276_277delinsCA (p.Thr92=) c.1315_1316delinsCA (n.1315_1316delinsCA) c.110_111delinsCA c.1167+11_1167+12delinsCA c.2310_2311delinsCA (p.Thr770=) c.3438_3439delinsCA (p.Thr1146=) c.353_354delinsCA c.3618_3619delinsCA (p.Thr1206=) c.3285_3286delinsCA (p.Thr1095=) | |
7 | g.117627582A= | CA1737398631 | CFTR | c.3517+12A= (n.3517+12A=) c.*3243A= (n.*3243A=) c.3346A= (p.Lys1116=) c.3529A= (p.Lys1177=) c.*182A= (n.*182A=) c.*190A= (n.*190A=) c.*1904A= (n.*1904A=) c.3523A= (p.Lys1175=) c.*3353A= (n.*3353A=) c.3103A= (p.Lys1035=) c.277A= (p.Lys93=) c.1316A= (n.1316A=) c.111A= c.1167+12A= c.2311A= (p.Lys771=) c.3439A= (p.Lys1147=) c.354A= c.3619A= (p.Lys1207=) c.3286A= (p.Lys1096=) | |
7 | g.117627582A>C | CA368996262 | CFTR | c.3517+12A>C (n.3517+12A>C) c.*3243A>C (n.*3243A>C) c.3346A>C (p.Lys1116Gln) c.3529A>C (p.Lys1177Gln) c.*182A>C (n.*182A>C) c.*190A>C (n.*190A>C) c.*1904A>C (n.*1904A>C) c.3523A>C (p.Lys1175Gln) c.*3353A>C (n.*3353A>C) c.3103A>C (p.Lys1035Gln) c.277A>C (p.Lys93Gln) c.1316A>C (n.1316A>C) c.111A>C c.1167+12A>C c.2311A>C (p.Lys771Gln) c.3439A>C (p.Lys1147Gln) c.354A>C c.3619A>C (p.Lys1207Gln) c.3286A>C (p.Lys1096Gln) | |
7 | g.117627582A>G | CA368996261 | CFTR | c.3517+12A>G (n.3517+12A>G) c.*3243A>G (n.*3243A>G) c.3346A>G (p.Lys1116Glu) c.3529A>G (p.Lys1177Glu) c.*182A>G (n.*182A>G) c.*190A>G (n.*190A>G) c.*1904A>G (n.*1904A>G) c.3523A>G (p.Lys1175Glu) c.*3353A>G (n.*3353A>G) c.3103A>G (p.Lys1035Glu) c.277A>G (p.Lys93Glu) c.1316A>G (n.1316A>G) c.111A>G c.1167+12A>G c.2311A>G (p.Lys771Glu) c.3439A>G (p.Lys1147Glu) c.354A>G c.3619A>G (p.Lys1207Glu) c.3286A>G (p.Lys1096Glu) | ClinVar dbSNP |
7 | g.117627582A>T | CA327223 | CFTR | c.3517+12A>T (n.3517+12A>T) c.*3243A>T (n.*3243A>T) c.3346A>T (p.Lys1116Ter) c.3529A>T (p.Lys1177Ter) c.*182A>T (n.*182A>T) c.*190A>T (n.*190A>T) c.*1904A>T (n.*1904A>T) c.3523A>T (p.Lys1175Ter) c.*3353A>T (n.*3353A>T) c.3103A>T (p.Lys1035Ter) c.277A>T (p.Lys93Ter) c.1316A>T (n.1316A>T) c.111A>T c.1167+12A>T c.2311A>T (p.Lys771Ter) c.3439A>T (p.Lys1147Ter) c.354A>T c.3619A>T (p.Lys1207Ter) c.3286A>T (p.Lys1096Ter) | ClinVar dbSNP |
7 | g.117627583del | CA327225 | CFTR | c.3517+13del (n.3517+13del) c.*3244del (n.*3244del) c.3347del (p.Lys1116SerfsTer15) c.3530del (p.Lys1177SerfsTer15) c.*183del (n.*183del) c.*191del (n.*191del) c.*1905del (n.*1905del) c.3524del (p.Lys1175SerfsTer15) c.*3354del (n.*3354del) c.3104del (p.Lys1035SerfsTer15) c.278del (p.Lys93SerfsTer15) c.1317del (n.1317del) c.112del c.1167+13del c.2312del (p.Lys771SerfsTer15) c.3440del (p.Lys1147SerfsTer15) c.355del c.3620del (p.Lys1207SerfsTer15) c.3287del (p.Lys1096SerfsTer15) | ClinVar dbSNP |
7 | g.117627583A= | CA1737398632 | CFTR | c.3517+13A= (n.3517+13A=) c.*3244A= (n.*3244A=) c.3347A= (p.Lys1116=) c.3530A= (p.Lys1177=) c.*183A= (n.*183A=) c.*191A= (n.*191A=) c.*1905A= (n.*1905A=) c.3524A= (p.Lys1175=) c.*3354A= (n.*3354A=) c.3104A= (p.Lys1035=) c.278A= (p.Lys93=) c.1317A= (n.1317A=) c.112A= c.1167+13A= c.2312A= (p.Lys771=) c.3440A= (p.Lys1147=) c.355A= c.3620A= (p.Lys1207=) c.3287A= (p.Lys1096=) | |
7 | g.117627583A>C | CA4451492 | CFTR | c.3517+13A>C (n.3517+13A>C) c.*3244A>C (n.*3244A>C) c.3347A>C (p.Lys1116Thr) c.3530A>C (p.Lys1177Thr) c.*183A>C (n.*183A>C) c.*191A>C (n.*191A>C) c.*1905A>C (n.*1905A>C) c.3524A>C (p.Lys1175Thr) c.*3354A>C (n.*3354A>C) c.3104A>C (p.Lys1035Thr) c.278A>C (p.Lys93Thr) c.1317A>C (n.1317A>C) c.112A>C c.1167+13A>C c.2312A>C (p.Lys771Thr) c.3440A>C (p.Lys1147Thr) c.355A>C c.3620A>C (p.Lys1207Thr) c.3287A>C (p.Lys1096Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627583A>G | CA4451491 | CFTR | c.3517+13A>G (n.3517+13A>G) c.*3244A>G (n.*3244A>G) c.3347A>G (p.Lys1116Arg) c.3530A>G (p.Lys1177Arg) c.*183A>G (n.*183A>G) c.*191A>G (n.*191A>G) c.*1905A>G (n.*1905A>G) c.3524A>G (p.Lys1175Arg) c.*3354A>G (n.*3354A>G) c.3104A>G (p.Lys1035Arg) c.278A>G (p.Lys93Arg) c.1317A>G (n.1317A>G) c.112A>G c.1167+13A>G c.2312A>G (p.Lys771Arg) c.3440A>G (p.Lys1147Arg) c.355A>G c.3620A>G (p.Lys1207Arg) c.3287A>G (p.Lys1096Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627583A>T | CA368996265 | CFTR | c.3517+13A>T (n.3517+13A>T) c.*3244A>T (n.*3244A>T) c.3347A>T (p.Lys1116Met) c.3530A>T (p.Lys1177Met) c.*183A>T (n.*183A>T) c.*191A>T (n.*191A>T) c.*1905A>T (n.*1905A>T) c.3524A>T (p.Lys1175Met) c.*3354A>T (n.*3354A>T) c.3104A>T (p.Lys1035Met) c.278A>T (p.Lys93Met) c.1317A>T (n.1317A>T) c.112A>T c.1167+13A>T c.2312A>T (p.Lys771Met) c.3440A>T (p.Lys1147Met) c.355A>T c.3620A>T (p.Lys1207Met) c.3287A>T (p.Lys1096Met) | |
7 | g.117627584G>A | CA4451493 | CFTR | c.3517+14G>A (n.3517+14G>A) c.*3245G>A (n.*3245G>A) c.3348G>A (p.Lys1116=) c.3531G>A (p.Lys1177=) c.*184G>A (n.*184G>A) c.*192G>A (n.*192G>A) c.*1906G>A (n.*1906G>A) c.3525G>A (p.Lys1175=) c.*3355G>A (n.*3355G>A) c.3105G>A (p.Lys1035=) c.279G>A (p.Lys93=) c.1318G>A (n.1318G>A) c.113G>A c.1167+14G>A c.2313G>A (p.Lys771=) c.3441G>A (p.Lys1147=) c.356G>A c.3621G>A (p.Lys1207=) c.3288G>A (p.Lys1096=) | ClinVar dbSNP ExAC gnomAD v4 |
7 | g.117627584G>C | CA368996270 | CFTR | c.3517+14G>C (n.3517+14G>C) c.*3245G>C (n.*3245G>C) c.3348G>C (p.Lys1116Asn) c.3531G>C (p.Lys1177Asn) c.*184G>C (n.*184G>C) c.*192G>C (n.*192G>C) c.*1906G>C (n.*1906G>C) c.3525G>C (p.Lys1175Asn) c.*3355G>C (n.*3355G>C) c.3105G>C (p.Lys1035Asn) c.279G>C (p.Lys93Asn) c.1318G>C (n.1318G>C) c.113G>C c.1167+14G>C c.2313G>C (p.Lys771Asn) c.3441G>C (p.Lys1147Asn) c.356G>C c.3621G>C (p.Lys1207Asn) c.3288G>C (p.Lys1096Asn) | gnomAD v4 |
7 | g.117627584G= | CA1737398633 | CFTR | c.3517+14G= (n.3517+14G=) c.*3245G= (n.*3245G=) c.3348G= (p.Lys1116=) c.3531G= (p.Lys1177=) c.*184G= (n.*184G=) c.*192G= (n.*192G=) c.*1906G= (n.*1906G=) c.3525G= (p.Lys1175=) c.*3355G= (n.*3355G=) c.3105G= (p.Lys1035=) c.279G= (p.Lys93=) c.1318G= (n.1318G=) c.113G= c.1167+14G= c.2313G= (p.Lys771=) c.3441G= (p.Lys1147=) c.356G= c.3621G= (p.Lys1207=) c.3288G= (p.Lys1096=) | |
7 | g.117627584G>T | CA368996272 | CFTR | c.3517+14G>T (n.3517+14G>T) c.*3245G>T (n.*3245G>T) c.3348G>T (p.Lys1116Asn) c.3531G>T (p.Lys1177Asn) c.*184G>T (n.*184G>T) c.*192G>T (n.*192G>T) c.*1906G>T (n.*1906G>T) c.3525G>T (p.Lys1175Asn) c.*3355G>T (n.*3355G>T) c.3105G>T (p.Lys1035Asn) c.279G>T (p.Lys93Asn) c.1318G>T (n.1318G>T) c.113G>T c.1167+14G>T c.2313G>T (p.Lys771Asn) c.3441G>T (p.Lys1147Asn) c.356G>T c.3621G>T (p.Lys1207Asn) c.3288G>T (p.Lys1096Asn) | |
7 | g.117627585T>A | CA368996276 | CFTR | c.3517+15T>A (n.3517+15T>A) c.*3246T>A (n.*3246T>A) c.3349T>A (p.Ser1117Thr) c.3532T>A (p.Ser1178Thr) c.*185T>A (n.*185T>A) c.*193T>A (n.*193T>A) c.*1907T>A (n.*1907T>A) c.3526T>A (p.Ser1176Thr) c.*3356T>A (n.*3356T>A) c.3106T>A (p.Ser1036Thr) c.280T>A (p.Ser94Thr) c.1319T>A (n.1319T>A) c.114T>A c.1167+15T>A c.2314T>A (p.Ser772Thr) c.3442T>A (p.Ser1148Thr) c.357T>A c.3622T>A (p.Ser1208Thr) c.3289T>A (p.Ser1097Thr) | ClinVar |
7 | g.117627585T>C | CA368996278 | CFTR | c.3517+15T>C (n.3517+15T>C) c.*3246T>C (n.*3246T>C) c.3349T>C (p.Ser1117Pro) c.3532T>C (p.Ser1178Pro) c.*185T>C (n.*185T>C) c.*193T>C (n.*193T>C) c.*1907T>C (n.*1907T>C) c.3526T>C (p.Ser1176Pro) c.*3356T>C (n.*3356T>C) c.3106T>C (p.Ser1036Pro) c.280T>C (p.Ser94Pro) c.1319T>C (n.1319T>C) c.114T>C c.1167+15T>C c.2314T>C (p.Ser772Pro) c.3442T>C (p.Ser1148Pro) c.357T>C c.3622T>C (p.Ser1208Pro) c.3289T>C (p.Ser1097Pro) | |
7 | g.117627585T>G | CA368996280 | CFTR | c.3517+15T>G (n.3517+15T>G) c.*3246T>G (n.*3246T>G) c.3349T>G (p.Ser1117Ala) c.3532T>G (p.Ser1178Ala) c.*185T>G (n.*185T>G) c.*193T>G (n.*193T>G) c.*1907T>G (n.*1907T>G) c.3526T>G (p.Ser1176Ala) c.*3356T>G (n.*3356T>G) c.3106T>G (p.Ser1036Ala) c.280T>G (p.Ser94Ala) c.1319T>G (n.1319T>G) c.114T>G c.1167+15T>G c.2314T>G (p.Ser772Ala) c.3442T>G (p.Ser1148Ala) c.357T>G c.3622T>G (p.Ser1208Ala) c.3289T>G (p.Ser1097Ala) | |
7 | g.117627585_117627588dup | CA254117 | CFTR | c.3517+15_3517+18dup (n.3517+15_3517+18dup) c.*3246_*3249dup (n.*3246_*3249dup) c.3349_3352dup (p.Thr1118IlefsTer17) c.3532_3535dup (p.Thr1179IlefsTer17) c.*185_*188dup (n.*185_*188dup) c.*193_*196dup (n.*193_*196dup) c.*1907_*1910dup (n.*1907_*1910dup) c.3526_3529dup (p.Thr1177IlefsTer17) c.*3356_*3359dup (n.*3356_*3359dup) c.3106_3109dup (p.Thr1037IlefsTer17) c.280_283dup (p.Thr95IlefsTer17) c.1319_1322dup (n.1319_1322dup) c.114_117dup c.1167+15_1167+18dup c.2314_2317dup (p.Thr773IlefsTer17) c.3442_3445dup (p.Thr1149IlefsTer17) c.357_360dup c.3622_3625dup (p.Thr1209IlefsTer17) c.3289_3292dup (p.Thr1098IlefsTer17) | ClinVar dbSNP |
7 | g.117627585_117627589delinsTCAAC | CA1737398634 | CFTR | c.3517+15_3517+19delinsTCAAC (n.3517+15_3517+19delinsTCAAC) c.*3246_*3250delinsTCAAC (n.*3246_*3250delinsTCAAC) c.3349_3353delinsTCAAC (p.Ser1117=) c.3532_3536delinsTCAAC (p.Ser1178=) c.*185_*189delinsTCAAC (n.*185_*189delinsTCAAC) c.*193_*197delinsTCAAC (n.*193_*197delinsTCAAC) c.*1907_*1911delinsTCAAC (n.*1907_*1911delinsTCAAC) c.3526_3530delinsTCAAC (p.Ser1176=) c.*3356_*3360delinsTCAAC (n.*3356_*3360delinsTCAAC) c.3106_3110delinsTCAAC (p.Ser1036=) c.280_284delinsTCAAC (p.Ser94=) c.1319_1323delinsTCAAC (n.1319_1323delinsTCAAC) c.114_118delinsTCAAC c.1167+15_1167+19delinsTCAAC c.2314_2318delinsTCAAC (p.Ser772=) c.3442_3446delinsTCAAC (p.Ser1148=) c.357_361delinsTCAAC c.3622_3626delinsTCAAC (p.Ser1208=) c.3289_3293delinsTCAAC (p.Ser1097=) | |
7 | g.117627586C>A | CA16041137 | CFTR | c.3517+16C>A (n.3517+16C>A) c.*3247C>A (n.*3247C>A) c.3350C>A (p.Ser1117Ter) c.3533C>A (p.Ser1178Ter) c.*186C>A (n.*186C>A) c.*194C>A (n.*194C>A) c.*1908C>A (n.*1908C>A) c.3527C>A (p.Ser1176Ter) c.*3357C>A (n.*3357C>A) c.3107C>A (p.Ser1036Ter) c.281C>A (p.Ser94Ter) c.1320C>A (n.1320C>A) c.115C>A c.1167+16C>A c.2315C>A (p.Ser772Ter) c.3443C>A (p.Ser1148Ter) c.358C>A c.3623C>A (p.Ser1208Ter) c.3290C>A (p.Ser1097Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117627586C= | CA1737398635 | CFTR | c.3517+16C= (n.3517+16C=) c.*3247C= (n.*3247C=) c.3350C= (p.Ser1117=) c.3533C= (p.Ser1178=) c.*186C= (n.*186C=) c.*194C= (n.*194C=) c.*1908C= (n.*1908C=) c.3527C= (p.Ser1176=) c.*3357C= (n.*3357C=) c.3107C= (p.Ser1036=) c.281C= (p.Ser94=) c.1320C= (n.1320C=) c.115C= c.1167+16C= c.2315C= (p.Ser772=) c.3443C= (p.Ser1148=) c.358C= c.3623C= (p.Ser1208=) c.3290C= (p.Ser1097=) | |
7 | g.117627586C>G | CA368996286 | CFTR | c.3517+16C>G (n.3517+16C>G) c.*3247C>G (n.*3247C>G) c.3350C>G (p.Ser1117Ter) c.3533C>G (p.Ser1178Ter) c.*186C>G (n.*186C>G) c.*194C>G (n.*194C>G) c.*1908C>G (n.*1908C>G) c.3527C>G (p.Ser1176Ter) c.*3357C>G (n.*3357C>G) c.3107C>G (p.Ser1036Ter) c.281C>G (p.Ser94Ter) c.1320C>G (n.1320C>G) c.115C>G c.1167+16C>G c.2315C>G (p.Ser772Ter) c.3443C>G (p.Ser1148Ter) c.358C>G c.3623C>G (p.Ser1208Ter) c.3290C>G (p.Ser1097Ter) | |
7 | g.117627586C>T | CA368996288 | CFTR | c.3517+16C>T (n.3517+16C>T) c.*3247C>T (n.*3247C>T) c.3350C>T (p.Ser1117Leu) c.3533C>T (p.Ser1178Leu) c.*186C>T (n.*186C>T) c.*194C>T (n.*194C>T) c.*1908C>T (n.*1908C>T) c.3527C>T (p.Ser1176Leu) c.*3357C>T (n.*3357C>T) c.3107C>T (p.Ser1036Leu) c.281C>T (p.Ser94Leu) c.1320C>T (n.1320C>T) c.115C>T c.1167+16C>T c.2315C>T (p.Ser772Leu) c.3443C>T (p.Ser1148Leu) c.358C>T c.3623C>T (p.Ser1208Leu) c.3290C>T (p.Ser1097Leu) | COSMIC |
7 | g.117627589_117627592del | CA327226 | CFTR | c.3517+19_3517+22del (n.3517+19_3517+22del) c.*3250_*3253del (n.*3250_*3253del) c.3353_3356del (p.Thr1118AsnfsTer12) c.3536_3539del (p.Thr1179AsnfsTer12) c.*189_*192del (n.*189_*192del) c.*197_*200del (n.*197_*200del) c.*1911_*1914del (n.*1911_*1914del) c.3530_3533del (p.Thr1177AsnfsTer12) c.*3360_*3363del (n.*3360_*3363del) c.3110_3113del (p.Thr1037AsnfsTer12) c.284_287del (p.Thr95AsnfsTer12) c.1323_1326del (n.1323_1326del) c.118_121del c.1167+19_1167+22del c.2318_2321del (p.Thr773AsnfsTer12) c.3446_3449del (p.Thr1149AsnfsTer12) c.361_364del c.3626_3629del (p.Thr1209AsnfsTer12) c.3293_3296del (p.Thr1098AsnfsTer12) | ClinVar dbSNP |
7 | g.117627587A= | CA1737398636 | CFTR | c.3517+17A= (n.3517+17A=) c.*3248A= (n.*3248A=) c.3351A= (p.Ser1117=) c.3534A= (p.Ser1178=) c.*187A= (n.*187A=) c.*195A= (n.*195A=) c.*1909A= (n.*1909A=) c.3528A= (p.Ser1176=) c.*3358A= (n.*3358A=) c.3108A= (p.Ser1036=) c.282A= (p.Ser94=) c.1321A= (n.1321A=) c.116A= c.1167+17A= c.2316A= (p.Ser772=) c.3444A= (p.Ser1148=) c.359A= c.3624A= (p.Ser1208=) c.3291A= (p.Ser1097=) | |
7 | g.117627587A>C | CA457231200 | CFTR | c.3517+17A>C (n.3517+17A>C) c.*3248A>C (n.*3248A>C) c.3351A>C (p.Ser1117=) c.3534A>C (p.Ser1178=) c.*187A>C (n.*187A>C) c.*195A>C (n.*195A>C) c.*1909A>C (n.*1909A>C) c.3528A>C (p.Ser1176=) c.*3358A>C (n.*3358A>C) c.3108A>C (p.Ser1036=) c.282A>C (p.Ser94=) c.1321A>C (n.1321A>C) c.116A>C c.1167+17A>C c.2316A>C (p.Ser772=) c.3444A>C (p.Ser1148=) c.359A>C c.3624A>C (p.Ser1208=) c.3291A>C (p.Ser1097=) | COSMIC |
7 | g.117627587A>G | CA457231201 | CFTR | c.3517+17A>G (n.3517+17A>G) c.*3248A>G (n.*3248A>G) c.3351A>G (p.Ser1117=) c.3534A>G (p.Ser1178=) c.*187A>G (n.*187A>G) c.*195A>G (n.*195A>G) c.*1909A>G (n.*1909A>G) c.3528A>G (p.Ser1176=) c.*3358A>G (n.*3358A>G) c.3108A>G (p.Ser1036=) c.282A>G (p.Ser94=) c.1321A>G (n.1321A>G) c.116A>G c.1167+17A>G c.2316A>G (p.Ser772=) c.3444A>G (p.Ser1148=) c.359A>G c.3624A>G (p.Ser1208=) c.3291A>G (p.Ser1097=) | dbSNP gnomAD v4 |
7 | g.117627587A>T | CA457231202 | CFTR | c.3517+17A>T (n.3517+17A>T) c.*3248A>T (n.*3248A>T) c.3351A>T (p.Ser1117=) c.3534A>T (p.Ser1178=) c.*187A>T (n.*187A>T) c.*195A>T (n.*195A>T) c.*1909A>T (n.*1909A>T) c.3528A>T (p.Ser1176=) c.*3358A>T (n.*3358A>T) c.3108A>T (p.Ser1036=) c.282A>T (p.Ser94=) c.1321A>T (n.1321A>T) c.116A>T c.1167+17A>T c.2316A>T (p.Ser772=) c.3444A>T (p.Ser1148=) c.359A>T c.3624A>T (p.Ser1208=) c.3291A>T (p.Ser1097=) | |
7 | g.117627588A>C | CA368996299 | CFTR | c.3517+18A>C (n.3517+18A>C) c.*3249A>C (n.*3249A>C) c.3352A>C (p.Thr1118Pro) c.3535A>C (p.Thr1179Pro) c.*188A>C (n.*188A>C) c.*196A>C (n.*196A>C) c.*1910A>C (n.*1910A>C) c.3529A>C (p.Thr1177Pro) c.*3359A>C (n.*3359A>C) c.3109A>C (p.Thr1037Pro) c.283A>C (p.Thr95Pro) c.1322A>C (n.1322A>C) c.117A>C c.1167+18A>C c.2317A>C (p.Thr773Pro) c.3445A>C (p.Thr1149Pro) c.360A>C c.3625A>C (p.Thr1209Pro) c.3292A>C (p.Thr1098Pro) | |
7 | g.117627588A>G | CA368996297 | CFTR | c.3517+18A>G (n.3517+18A>G) c.*3249A>G (n.*3249A>G) c.3352A>G (p.Thr1118Ala) c.3535A>G (p.Thr1179Ala) c.*188A>G (n.*188A>G) c.*196A>G (n.*196A>G) c.*1910A>G (n.*1910A>G) c.3529A>G (p.Thr1177Ala) c.*3359A>G (n.*3359A>G) c.3109A>G (p.Thr1037Ala) c.283A>G (p.Thr95Ala) c.1322A>G (n.1322A>G) c.117A>G c.1167+18A>G c.2317A>G (p.Thr773Ala) c.3445A>G (p.Thr1149Ala) c.360A>G c.3625A>G (p.Thr1209Ala) c.3292A>G (p.Thr1098Ala) | |
7 | g.117627588A>T | CA368996295 | CFTR | c.3517+18A>T (n.3517+18A>T) c.*3249A>T (n.*3249A>T) c.3352A>T (p.Thr1118Ser) c.3535A>T (p.Thr1179Ser) c.*188A>T (n.*188A>T) c.*196A>T (n.*196A>T) c.*1910A>T (n.*1910A>T) c.3529A>T (p.Thr1177Ser) c.*3359A>T (n.*3359A>T) c.3109A>T (p.Thr1037Ser) c.283A>T (p.Thr95Ser) c.1322A>T (n.1322A>T) c.117A>T c.1167+18A>T c.2317A>T (p.Thr773Ser) c.3445A>T (p.Thr1149Ser) c.360A>T c.3625A>T (p.Thr1209Ser) c.3292A>T (p.Thr1098Ser) | |
7 | g.117627589C>A | CA368996302 | CFTR | c.3517+19C>A (n.3517+19C>A) c.*3250C>A (n.*3250C>A) c.3353C>A (p.Thr1118Asn) c.3536C>A (p.Thr1179Asn) c.*189C>A (n.*189C>A) c.*197C>A (n.*197C>A) c.*1911C>A (n.*1911C>A) c.3530C>A (p.Thr1177Asn) c.*3360C>A (n.*3360C>A) c.3110C>A (p.Thr1037Asn) c.284C>A (p.Thr95Asn) c.1323C>A (n.1323C>A) c.118C>A c.1167+19C>A c.2318C>A (p.Thr773Asn) c.3446C>A (p.Thr1149Asn) c.361C>A c.3626C>A (p.Thr1209Asn) c.3293C>A (p.Thr1098Asn) | |
7 | g.117627589C>G | CA368996304 | CFTR | c.3517+19C>G (n.3517+19C>G) c.*3250C>G (n.*3250C>G) c.3353C>G (p.Thr1118Ser) c.3536C>G (p.Thr1179Ser) c.*189C>G (n.*189C>G) c.*197C>G (n.*197C>G) c.*1911C>G (n.*1911C>G) c.3530C>G (p.Thr1177Ser) c.*3360C>G (n.*3360C>G) c.3110C>G (p.Thr1037Ser) c.284C>G (p.Thr95Ser) c.1323C>G (n.1323C>G) c.118C>G c.1167+19C>G c.2318C>G (p.Thr773Ser) c.3446C>G (p.Thr1149Ser) c.361C>G c.3626C>G (p.Thr1209Ser) c.3293C>G (p.Thr1098Ser) | |
7 | g.117627589C>T | CA368996305 | CFTR | c.3517+19C>T (n.3517+19C>T) c.*3250C>T (n.*3250C>T) c.3353C>T (p.Thr1118Ile) c.3536C>T (p.Thr1179Ile) c.*189C>T (n.*189C>T) c.*197C>T (n.*197C>T) c.*1911C>T (n.*1911C>T) c.3530C>T (p.Thr1177Ile) c.*3360C>T (n.*3360C>T) c.3110C>T (p.Thr1037Ile) c.284C>T (p.Thr95Ile) c.1323C>T (n.1323C>T) c.118C>T c.1167+19C>T c.2318C>T (p.Thr773Ile) c.3446C>T (p.Thr1149Ile) c.361C>T c.3626C>T (p.Thr1209Ile) c.3293C>T (p.Thr1098Ile) | gnomAD v4 |
7 | g.117627590C>A | CA457231203 | CFTR | c.3517+20C>A (n.3517+20C>A) c.*3251C>A (n.*3251C>A) c.3354C>A (p.Thr1118=) c.3537C>A (p.Thr1179=) c.*190C>A (n.*190C>A) c.*198C>A (n.*198C>A) c.*1912C>A (n.*1912C>A) c.3531C>A (p.Thr1177=) c.*3361C>A (n.*3361C>A) c.3111C>A (p.Thr1037=) c.285C>A (p.Thr95=) c.1324C>A (n.1324C>A) c.119C>A c.1167+20C>A c.2319C>A (p.Thr773=) c.3447C>A (p.Thr1149=) c.362C>A c.3627C>A (p.Thr1209=) c.3294C>A (p.Thr1098=) | |
7 | g.117627590C= | CA1737398638 | CFTR | c.3517+20C= (n.3517+20C=) c.*3251C= (n.*3251C=) c.3354C= (p.Thr1118=) c.3537C= (p.Thr1179=) c.*190C= (n.*190C=) c.*198C= (n.*198C=) c.*1912C= (n.*1912C=) c.3531C= (p.Thr1177=) c.*3361C= (n.*3361C=) c.3111C= (p.Thr1037=) c.285C= (p.Thr95=) c.1324C= (n.1324C=) c.119C= c.1167+20C= c.2319C= (p.Thr773=) c.3447C= (p.Thr1149=) c.362C= c.3627C= (p.Thr1209=) c.3294C= (p.Thr1098=) | |
7 | g.117627590C>G | CA457231204 | CFTR | c.3517+20C>G (n.3517+20C>G) c.*3251C>G (n.*3251C>G) c.3354C>G (p.Thr1118=) c.3537C>G (p.Thr1179=) c.*190C>G (n.*190C>G) c.*198C>G (n.*198C>G) c.*1912C>G (n.*1912C>G) c.3531C>G (p.Thr1177=) c.*3361C>G (n.*3361C>G) c.3111C>G (p.Thr1037=) c.285C>G (p.Thr95=) c.1324C>G (n.1324C>G) c.119C>G c.1167+20C>G c.2319C>G (p.Thr773=) c.3447C>G (p.Thr1149=) c.362C>G c.3627C>G (p.Thr1209=) c.3294C>G (p.Thr1098=) | |
7 | g.117627590C>T | CA4451494 | CFTR | c.3517+20C>T (n.3517+20C>T) c.*3251C>T (n.*3251C>T) c.3354C>T (p.Thr1118=) c.3537C>T (p.Thr1179=) c.*190C>T (n.*190C>T) c.*198C>T (n.*198C>T) c.*1912C>T (n.*1912C>T) c.3531C>T (p.Thr1177=) c.*3361C>T (n.*3361C>T) c.3111C>T (p.Thr1037=) c.285C>T (p.Thr95=) c.1324C>T (n.1324C>T) c.119C>T c.1167+20C>T c.2319C>T (p.Thr773=) c.3447C>T (p.Thr1149=) c.362C>T c.3627C>T (p.Thr1209=) c.3294C>T (p.Thr1098=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627590_117627591delinsCA | CA1737398637 | CFTR | c.3517+20_3517+21delinsCA (n.3517+20_3517+21delinsCA) c.*3251_*3252delinsCA (n.*3251_*3252delinsCA) c.3354_3355delinsCA (p.Thr1118=) c.3537_3538delinsCA (p.Thr1179=) c.*190_*191delinsCA (n.*190_*191delinsCA) c.*198_*199delinsCA (n.*198_*199delinsCA) c.*1912_*1913delinsCA (n.*1912_*1913delinsCA) c.3531_3532delinsCA (p.Thr1177=) c.*3361_*3362delinsCA (n.*3361_*3362delinsCA) c.3111_3112delinsCA (p.Thr1037=) c.285_286delinsCA (p.Thr95=) c.1324_1325delinsCA (n.1324_1325delinsCA) c.119_120delinsCA c.1167+20_1167+21delinsCA c.2319_2320delinsCA (p.Thr773=) c.3447_3448delinsCA (p.Thr1149=) c.362_363delinsCA c.3627_3628delinsCA (p.Thr1209=) c.3294_3295delinsCA (p.Thr1098=) | |
7 | g.117627591A>C | CA368996307 | CFTR | c.3517+21A>C (n.3517+21A>C) c.*3252A>C (n.*3252A>C) c.3355A>C (p.Lys1119Gln) c.3538A>C (p.Lys1180Gln) c.*191A>C (n.*191A>C) c.*199A>C (n.*199A>C) c.*1913A>C (n.*1913A>C) c.3532A>C (p.Lys1178Gln) c.*3362A>C (n.*3362A>C) c.3112A>C (p.Lys1038Gln) c.286A>C (p.Lys96Gln) c.1325A>C (n.1325A>C) c.120A>C c.1167+21A>C c.2320A>C (p.Lys774Gln) c.3448A>C (p.Lys1150Gln) c.363A>C c.3628A>C (p.Lys1210Gln) c.3295A>C (p.Lys1099Gln) | |
7 | g.117627591A>G | CA368996309 | CFTR | c.3517+21A>G (n.3517+21A>G) c.*3252A>G (n.*3252A>G) c.3355A>G (p.Lys1119Glu) c.3538A>G (p.Lys1180Glu) c.*191A>G (n.*191A>G) c.*199A>G (n.*199A>G) c.*1913A>G (n.*1913A>G) c.3532A>G (p.Lys1178Glu) c.*3362A>G (n.*3362A>G) c.3112A>G (p.Lys1038Glu) c.286A>G (p.Lys96Glu) c.1325A>G (n.1325A>G) c.120A>G c.1167+21A>G c.2320A>G (p.Lys774Glu) c.3448A>G (p.Lys1150Glu) c.363A>G c.3628A>G (p.Lys1210Glu) c.3295A>G (p.Lys1099Glu) | |
7 | g.117627591A>T | CA368996311 | CFTR | c.3517+21A>T (n.3517+21A>T) c.*3252A>T (n.*3252A>T) c.3355A>T (p.Lys1119Ter) c.3538A>T (p.Lys1180Ter) c.*191A>T (n.*191A>T) c.*199A>T (n.*199A>T) c.*1913A>T (n.*1913A>T) c.3532A>T (p.Lys1178Ter) c.*3362A>T (n.*3362A>T) c.3112A>T (p.Lys1038Ter) c.286A>T (p.Lys96Ter) c.1325A>T (n.1325A>T) c.120A>T c.1167+21A>T c.2320A>T (p.Lys774Ter) c.3448A>T (p.Lys1150Ter) c.363A>T c.3628A>T (p.Lys1210Ter) c.3295A>T (p.Lys1099Ter) | |
7 | g.117627593del | CA327227 | CFTR | c.3517+23del (n.3517+23del) c.*3254del (n.*3254del) c.3357del (p.Lys1119AsnfsTer12) c.3540del (p.Lys1180AsnfsTer12) c.*193del (n.*193del) c.*201del (n.*201del) c.*1915del (n.*1915del) c.3534del (p.Lys1178AsnfsTer12) c.*3364del (n.*3364del) c.3114del (p.Lys1038AsnfsTer12) c.288del (p.Lys96AsnfsTer12) c.1327del (n.1327del) c.122del c.1167+23del c.2322del (p.Lys774AsnfsTer12) c.3450del (p.Lys1150AsnfsTer12) c.365del c.3630del (p.Lys1210AsnfsTer12) c.3297del (p.Lys1099AsnfsTer12) | ClinVar dbSNP |
7 | g.117627592A>C | CA368996315 | CFTR | c.3517+22A>C (n.3517+22A>C) c.*3253A>C (n.*3253A>C) c.3356A>C (p.Lys1119Thr) c.3539A>C (p.Lys1180Thr) c.*192A>C (n.*192A>C) c.*200A>C (n.*200A>C) c.*1914A>C (n.*1914A>C) c.3533A>C (p.Lys1178Thr) c.*3363A>C (n.*3363A>C) c.3113A>C (p.Lys1038Thr) c.287A>C (p.Lys96Thr) c.1326A>C (n.1326A>C) c.121A>C c.1167+22A>C c.2321A>C (p.Lys774Thr) c.3449A>C (p.Lys1150Thr) c.364A>C c.3629A>C (p.Lys1210Thr) c.3296A>C (p.Lys1099Thr) | |
7 | g.117627592A>G | CA368996316 | CFTR | c.3517+22A>G (n.3517+22A>G) c.*3253A>G (n.*3253A>G) c.3356A>G (p.Lys1119Arg) c.3539A>G (p.Lys1180Arg) c.*192A>G (n.*192A>G) c.*200A>G (n.*200A>G) c.*1914A>G (n.*1914A>G) c.3533A>G (p.Lys1178Arg) c.*3363A>G (n.*3363A>G) c.3113A>G (p.Lys1038Arg) c.287A>G (p.Lys96Arg) c.1326A>G (n.1326A>G) c.121A>G c.1167+22A>G c.2321A>G (p.Lys774Arg) c.3449A>G (p.Lys1150Arg) c.364A>G c.3629A>G (p.Lys1210Arg) c.3296A>G (p.Lys1099Arg) | |
7 | g.117627592A>T | CA368996317 | CFTR | c.3517+22A>T (n.3517+22A>T) c.*3253A>T (n.*3253A>T) c.3356A>T (p.Lys1119Ile) c.3539A>T (p.Lys1180Ile) c.*192A>T (n.*192A>T) c.*200A>T (n.*200A>T) c.*1914A>T (n.*1914A>T) c.3533A>T (p.Lys1178Ile) c.*3363A>T (n.*3363A>T) c.3113A>T (p.Lys1038Ile) c.287A>T (p.Lys96Ile) c.1326A>T (n.1326A>T) c.121A>T c.1167+22A>T c.2321A>T (p.Lys774Ile) c.3449A>T (p.Lys1150Ile) c.364A>T c.3629A>T (p.Lys1210Ile) c.3296A>T (p.Lys1099Ile) | |
7 | g.117627592_117627607del | CA2580076335 | CFTR | c.3517+22_3517+37del (n.3517+22_3517+37del) c.*3253_*3268del (n.*3253_*3268del) c.3356_3371del (p.Lys1119ThrfsTer7) c.3539_3554del (p.Lys1180ThrfsTer7) c.*192_*207del (n.*192_*207del) c.*200_*215del (n.*200_*215del) c.*1914_*1929del (n.*1914_*1929del) c.3533_3548del (p.Lys1178ThrfsTer7) c.*3363_*3378del (n.*3363_*3378del) c.3113_3128del (p.Lys1038ThrfsTer7) c.287_302del (p.Lys96ThrfsTer7) c.1326_1341del (n.1326_1341del) c.121_136del c.1167+22_1167+37del c.2321_2336del (p.Lys774ThrfsTer7) c.3449_3464del (p.Lys1150ThrfsTer7) c.364_379del c.3629_3644del (p.Lys1210ThrfsTer7) c.3296_3311del (p.Lys1099ThrfsTer7) | ClinVar |
7 | g.117627593A>C | CA368996318 | CFTR | c.3517+23A>C (n.3517+23A>C) c.*3254A>C (n.*3254A>C) c.3357A>C (p.Lys1119Asn) c.3540A>C (p.Lys1180Asn) c.*193A>C (n.*193A>C) c.*201A>C (n.*201A>C) c.*1915A>C (n.*1915A>C) c.3534A>C (p.Lys1178Asn) c.*3364A>C (n.*3364A>C) c.3114A>C (p.Lys1038Asn) c.288A>C (p.Lys96Asn) c.1327A>C (n.1327A>C) c.122A>C c.1167+23A>C c.2322A>C (p.Lys774Asn) c.3450A>C (p.Lys1150Asn) c.365A>C c.3630A>C (p.Lys1210Asn) c.3297A>C (p.Lys1099Asn) | |
7 | g.117627593A>G | CA457231205 | CFTR | c.3517+23A>G (n.3517+23A>G) c.*3254A>G (n.*3254A>G) c.3357A>G (p.Lys1119=) c.3540A>G (p.Lys1180=) c.*193A>G (n.*193A>G) c.*201A>G (n.*201A>G) c.*1915A>G (n.*1915A>G) c.3534A>G (p.Lys1178=) c.*3364A>G (n.*3364A>G) c.3114A>G (p.Lys1038=) c.288A>G (p.Lys96=) c.1327A>G (n.1327A>G) c.122A>G c.1167+23A>G c.2322A>G (p.Lys774=) c.3450A>G (p.Lys1150=) c.365A>G c.3630A>G (p.Lys1210=) c.3297A>G (p.Lys1099=) | |
7 | g.117627593A>T | CA368996319 | CFTR | c.3517+23A>T (n.3517+23A>T) c.*3254A>T (n.*3254A>T) c.3357A>T (p.Lys1119Asn) c.3540A>T (p.Lys1180Asn) c.*193A>T (n.*193A>T) c.*201A>T (n.*201A>T) c.*1915A>T (n.*1915A>T) c.3534A>T (p.Lys1178Asn) c.*3364A>T (n.*3364A>T) c.3114A>T (p.Lys1038Asn) c.288A>T (p.Lys96Asn) c.1327A>T (n.1327A>T) c.122A>T c.1167+23A>T c.2322A>T (p.Lys774Asn) c.3450A>T (p.Lys1150Asn) c.365A>T c.3630A>T (p.Lys1210Asn) c.3297A>T (p.Lys1099Asn) | |
7 | g.117627594C>A | CA368996324 | CFTR | c.3517+24C>A (n.3517+24C>A) c.*3255C>A (n.*3255C>A) c.3358C>A (p.Pro1120Thr) c.3541C>A (p.Pro1181Thr) c.*194C>A (n.*194C>A) c.*202C>A (n.*202C>A) c.*1916C>A (n.*1916C>A) c.3535C>A (p.Pro1179Thr) c.*3365C>A (n.*3365C>A) c.3115C>A (p.Pro1039Thr) c.289C>A (p.Pro97Thr) c.1328C>A (n.1328C>A) c.123C>A c.1167+24C>A c.2323C>A (p.Pro775Thr) c.3451C>A (p.Pro1151Thr) c.366C>A c.3631C>A (p.Pro1211Thr) c.3298C>A (p.Pro1100Thr) | |
7 | g.117627594C>G | CA368996326 | CFTR | c.3517+24C>G (n.3517+24C>G) c.*3255C>G (n.*3255C>G) c.3358C>G (p.Pro1120Ala) c.3541C>G (p.Pro1181Ala) c.*194C>G (n.*194C>G) c.*202C>G (n.*202C>G) c.*1916C>G (n.*1916C>G) c.3535C>G (p.Pro1179Ala) c.*3365C>G (n.*3365C>G) c.3115C>G (p.Pro1039Ala) c.289C>G (p.Pro97Ala) c.1328C>G (n.1328C>G) c.123C>G c.1167+24C>G c.2323C>G (p.Pro775Ala) c.3451C>G (p.Pro1151Ala) c.366C>G c.3631C>G (p.Pro1211Ala) c.3298C>G (p.Pro1100Ala) | |
7 | g.117627594C>T | CA368996322 | CFTR | c.3517+24C>T (n.3517+24C>T) c.*3255C>T (n.*3255C>T) c.3358C>T (p.Pro1120Ser) c.3541C>T (p.Pro1181Ser) c.*194C>T (n.*194C>T) c.*202C>T (n.*202C>T) c.*1916C>T (n.*1916C>T) c.3535C>T (p.Pro1179Ser) c.*3365C>T (n.*3365C>T) c.3115C>T (p.Pro1039Ser) c.289C>T (p.Pro97Ser) c.1328C>T (n.1328C>T) c.123C>T c.1167+24C>T c.2323C>T (p.Pro775Ser) c.3451C>T (p.Pro1151Ser) c.366C>T c.3631C>T (p.Pro1211Ser) c.3298C>T (p.Pro1100Ser) | |
7 | g.117627595C>A | CA4451495 | CFTR | c.3517+25C>A (n.3517+25C>A) c.*3256C>A (n.*3256C>A) c.3359C>A (p.Pro1120Gln) c.3542C>A (p.Pro1181Gln) c.*195C>A (n.*195C>A) c.*203C>A (n.*203C>A) c.*1917C>A (n.*1917C>A) c.3536C>A (p.Pro1179Gln) c.*3366C>A (n.*3366C>A) c.3116C>A (p.Pro1039Gln) c.290C>A (p.Pro97Gln) c.1329C>A (n.1329C>A) c.124C>A c.1167+25C>A c.2324C>A (p.Pro775Gln) c.3452C>A (p.Pro1151Gln) c.367C>A c.3632C>A (p.Pro1211Gln) c.3299C>A (p.Pro1100Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627595C= | CA1737398639 | CFTR | c.3517+25C= (n.3517+25C=) c.*3256C= (n.*3256C=) c.3359C= (p.Pro1120=) c.3542C= (p.Pro1181=) c.*195C= (n.*195C=) c.*203C= (n.*203C=) c.*1917C= (n.*1917C=) c.3536C= (p.Pro1179=) c.*3366C= (n.*3366C=) c.3116C= (p.Pro1039=) c.290C= (p.Pro97=) c.1329C= (n.1329C=) c.124C= c.1167+25C= c.2324C= (p.Pro775=) c.3452C= (p.Pro1151=) c.367C= c.3632C= (p.Pro1211=) c.3299C= (p.Pro1100=) | |
7 | g.117627595C>G | CA368996329 | CFTR | c.3517+25C>G (n.3517+25C>G) c.*3256C>G (n.*3256C>G) c.3359C>G (p.Pro1120Arg) c.3542C>G (p.Pro1181Arg) c.*195C>G (n.*195C>G) c.*203C>G (n.*203C>G) c.*1917C>G (n.*1917C>G) c.3536C>G (p.Pro1179Arg) c.*3366C>G (n.*3366C>G) c.3116C>G (p.Pro1039Arg) c.290C>G (p.Pro97Arg) c.1329C>G (n.1329C>G) c.124C>G c.1167+25C>G c.2324C>G (p.Pro775Arg) c.3452C>G (p.Pro1151Arg) c.367C>G c.3632C>G (p.Pro1211Arg) c.3299C>G (p.Pro1100Arg) | gnomAD v4 |
7 | g.117627595C>T | CA368996331 | CFTR | c.3517+25C>T (n.3517+25C>T) c.*3256C>T (n.*3256C>T) c.3359C>T (p.Pro1120Leu) c.3542C>T (p.Pro1181Leu) c.*195C>T (n.*195C>T) c.*203C>T (n.*203C>T) c.*1917C>T (n.*1917C>T) c.3536C>T (p.Pro1179Leu) c.*3366C>T (n.*3366C>T) c.3116C>T (p.Pro1039Leu) c.290C>T (p.Pro97Leu) c.1329C>T (n.1329C>T) c.124C>T c.1167+25C>T c.2324C>T (p.Pro775Leu) c.3452C>T (p.Pro1151Leu) c.367C>T c.3632C>T (p.Pro1211Leu) c.3299C>T (p.Pro1100Leu) | gnomAD v4 |
7 | g.117627595_117627596insGTACATTTTATTATAATATACCGGTT | CA2684620079 | CFTR | c.3517+25_3517+26insGTACATTTTATTATAATATACCGGTT (n.3517+25_3517+26insGTACATTTTATTATAATATACCGGTT) c.*3256_*3257insGTACATTTTATTATAATATACCGGTT (n.*3256_*3257insGTACATTTTATTATAATATACCGGTT) c.3359_3360insGTACATTTTATTATAATATACCGGTT (p.Lys1122IlefsTer4) c.3542_3543insGTACATTTTATTATAATATACCGGTT (p.Lys1183IlefsTer4) c.*195_*196insGTACATTTTATTATAATATACCGGTT (n.*195_*196insGTACATTTTATTATAATATACCGGTT) c.*203_*204insGTACATTTTATTATAATATACCGGTT (n.*203_*204insGTACATTTTATTATAATATACCGGTT) c.*1917_*1918insGTACATTTTATTATAATATACCGGTT (n.*1917_*1918insGTACATTTTATTATAATATACCGGTT) c.3536_3537insGTACATTTTATTATAATATACCGGTT (p.Lys1181IlefsTer4) c.*3366_*3367insGTACATTTTATTATAATATACCGGTT (n.*3366_*3367insGTACATTTTATTATAATATACCGGTT) c.3116_3117insGTACATTTTATTATAATATACCGGTT (p.Lys1041IlefsTer4) c.290_291insGTACATTTTATTATAATATACCGGTT (p.Lys99IlefsTer4) c.1329_1330insGTACATTTTATTATAATATACCGGTT (n.1329_1330insGTACATTTTATTATAATATACCGGTT) c.124_125insGTACATTTTATTATAATATACCGGTT c.1167+25_1167+26insGTACATTTTATTATAATATACCGGTT c.2324_2325insGTACATTTTATTATAATATACCGGTT (p.Lys777IlefsTer4) c.3452_3453insGTACATTTTATTATAATATACCGGTT (p.Lys1153IlefsTer4) c.367_368insGTACATTTTATTATAATATACCGGTT c.3632_3633insGTACATTTTATTATAATATACCGGTT (p.Lys1213IlefsTer4) c.3299_3300insGTACATTTTATTATAATATACCGGTT (p.Lys1102IlefsTer4) | gnomAD v4 |
7 | g.117627596A= | CA1737398640 | CFTR | c.3517+26A= (n.3517+26A=) c.*3257A= (n.*3257A=) c.3360A= (p.Pro1120=) c.3543A= (p.Pro1181=) c.*196A= (n.*196A=) c.*204A= (n.*204A=) c.*1918A= (n.*1918A=) c.3537A= (p.Pro1179=) c.*3367A= (n.*3367A=) c.3117A= (p.Pro1039=) c.291A= (p.Pro97=) c.1330A= (n.1330A=) c.125A= c.1167+26A= c.2325A= (p.Pro775=) c.3453A= (p.Pro1151=) c.368A= c.3633A= (p.Pro1211=) c.3300A= (p.Pro1100=) | |
7 | g.117627596A>C | CA457231206 | CFTR | c.3517+26A>C (n.3517+26A>C) c.*3257A>C (n.*3257A>C) c.3360A>C (p.Pro1120=) c.3543A>C (p.Pro1181=) c.*196A>C (n.*196A>C) c.*204A>C (n.*204A>C) c.*1918A>C (n.*1918A>C) c.3537A>C (p.Pro1179=) c.*3367A>C (n.*3367A>C) c.3117A>C (p.Pro1039=) c.291A>C (p.Pro97=) c.1330A>C (n.1330A>C) c.125A>C c.1167+26A>C c.2325A>C (p.Pro775=) c.3453A>C (p.Pro1151=) c.368A>C c.3633A>C (p.Pro1211=) c.3300A>C (p.Pro1100=) | |
7 | g.117627596A>G | CA457231207 | CFTR | c.3517+26A>G (n.3517+26A>G) c.*3257A>G (n.*3257A>G) c.3360A>G (p.Pro1120=) c.3543A>G (p.Pro1181=) c.*196A>G (n.*196A>G) c.*204A>G (n.*204A>G) c.*1918A>G (n.*1918A>G) c.3537A>G (p.Pro1179=) c.*3367A>G (n.*3367A>G) c.3117A>G (p.Pro1039=) c.291A>G (p.Pro97=) c.1330A>G (n.1330A>G) c.125A>G c.1167+26A>G c.2325A>G (p.Pro775=) c.3453A>G (p.Pro1151=) c.368A>G c.3633A>G (p.Pro1211=) c.3300A>G (p.Pro1100=) | ClinVar dbSNP gnomAD v4 |
7 | g.117627596A>T | CA457231208 | CFTR | c.3517+26A>T (n.3517+26A>T) c.*3257A>T (n.*3257A>T) c.3360A>T (p.Pro1120=) c.3543A>T (p.Pro1181=) c.*196A>T (n.*196A>T) c.*204A>T (n.*204A>T) c.*1918A>T (n.*1918A>T) c.3537A>T (p.Pro1179=) c.*3367A>T (n.*3367A>T) c.3117A>T (p.Pro1039=) c.291A>T (p.Pro97=) c.1330A>T (n.1330A>T) c.125A>T c.1167+26A>T c.2325A>T (p.Pro775=) c.3453A>T (p.Pro1151=) c.368A>T c.3633A>T (p.Pro1211=) c.3300A>T (p.Pro1100=) | |
7 | g.117627597T>A | CA368996333 | CFTR | c.3517+27T>A (n.3517+27T>A) c.*3258T>A (n.*3258T>A) c.3361T>A (p.Tyr1121Asn) c.3544T>A (p.Tyr1182Asn) c.*197T>A (n.*197T>A) c.*205T>A (n.*205T>A) c.*1919T>A (n.*1919T>A) c.3538T>A (p.Tyr1180Asn) c.*3368T>A (n.*3368T>A) c.3118T>A (p.Tyr1040Asn) c.292T>A (p.Tyr98Asn) c.1331T>A (n.1331T>A) c.126T>A c.1167+27T>A c.2326T>A (p.Tyr776Asn) c.3454T>A (p.Tyr1152Asn) c.369T>A c.3634T>A (p.Tyr1212Asn) c.3301T>A (p.Tyr1101Asn) | |
7 | g.117627597T>C | CA4451496 | CFTR | c.3517+27T>C (n.3517+27T>C) c.*3258T>C (n.*3258T>C) c.3361T>C (p.Tyr1121His) c.3544T>C (p.Tyr1182His) c.*197T>C (n.*197T>C) c.*205T>C (n.*205T>C) c.*1919T>C (n.*1919T>C) c.3538T>C (p.Tyr1180His) c.*3368T>C (n.*3368T>C) c.3118T>C (p.Tyr1040His) c.292T>C (p.Tyr98His) c.1331T>C (n.1331T>C) c.126T>C c.1167+27T>C c.2326T>C (p.Tyr776His) c.3454T>C (p.Tyr1152His) c.369T>C c.3634T>C (p.Tyr1212His) c.3301T>C (p.Tyr1101His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627597T>G | CA368996335 | CFTR | c.3517+27T>G (n.3517+27T>G) c.*3258T>G (n.*3258T>G) c.3361T>G (p.Tyr1121Asp) c.3544T>G (p.Tyr1182Asp) c.*197T>G (n.*197T>G) c.*205T>G (n.*205T>G) c.*1919T>G (n.*1919T>G) c.3538T>G (p.Tyr1180Asp) c.*3368T>G (n.*3368T>G) c.3118T>G (p.Tyr1040Asp) c.292T>G (p.Tyr98Asp) c.1331T>G (n.1331T>G) c.126T>G c.1167+27T>G c.2326T>G (p.Tyr776Asp) c.3454T>G (p.Tyr1152Asp) c.369T>G c.3634T>G (p.Tyr1212Asp) c.3301T>G (p.Tyr1101Asp) | |
7 | g.117627597T= | CA1737398641 | CFTR | c.3517+27T= (n.3517+27T=) c.*3258T= (n.*3258T=) c.3361T= (p.Tyr1121=) c.3544T= (p.Tyr1182=) c.*197T= (n.*197T=) c.*205T= (n.*205T=) c.*1919T= (n.*1919T=) c.3538T= (p.Tyr1180=) c.*3368T= (n.*3368T=) c.3118T= (p.Tyr1040=) c.292T= (p.Tyr98=) c.1331T= (n.1331T=) c.126T= c.1167+27T= c.2326T= (p.Tyr776=) c.3454T= (p.Tyr1152=) c.369T= c.3634T= (p.Tyr1212=) c.3301T= (p.Tyr1101=) | |
7 | g.117627598A>C | CA368996341 | CFTR | c.3517+28A>C (n.3517+28A>C) c.*3259A>C (n.*3259A>C) c.3362A>C (p.Tyr1121Ser) c.3545A>C (p.Tyr1182Ser) c.*198A>C (n.*198A>C) c.*206A>C (n.*206A>C) c.*1920A>C (n.*1920A>C) c.3539A>C (p.Tyr1180Ser) c.*3369A>C (n.*3369A>C) c.3119A>C (p.Tyr1040Ser) c.293A>C (p.Tyr98Ser) c.1332A>C (n.1332A>C) c.127A>C c.1167+28A>C c.2327A>C (p.Tyr776Ser) c.3455A>C (p.Tyr1152Ser) c.370A>C c.3635A>C (p.Tyr1212Ser) c.3302A>C (p.Tyr1101Ser) | |
7 | g.117627598A>G | CA368996338 | CFTR | c.3517+28A>G (n.3517+28A>G) c.*3259A>G (n.*3259A>G) c.3362A>G (p.Tyr1121Cys) c.3545A>G (p.Tyr1182Cys) c.*198A>G (n.*198A>G) c.*206A>G (n.*206A>G) c.*1920A>G (n.*1920A>G) c.3539A>G (p.Tyr1180Cys) c.*3369A>G (n.*3369A>G) c.3119A>G (p.Tyr1040Cys) c.293A>G (p.Tyr98Cys) c.1332A>G (n.1332A>G) c.127A>G c.1167+28A>G c.2327A>G (p.Tyr776Cys) c.3455A>G (p.Tyr1152Cys) c.370A>G c.3635A>G (p.Tyr1212Cys) c.3302A>G (p.Tyr1101Cys) | |
7 | g.117627598A>T | CA368996340 | CFTR | c.3517+28A>T (n.3517+28A>T) c.*3259A>T (n.*3259A>T) c.3362A>T (p.Tyr1121Phe) c.3545A>T (p.Tyr1182Phe) c.*198A>T (n.*198A>T) c.*206A>T (n.*206A>T) c.*1920A>T (n.*1920A>T) c.3539A>T (p.Tyr1180Phe) c.*3369A>T (n.*3369A>T) c.3119A>T (p.Tyr1040Phe) c.293A>T (p.Tyr98Phe) c.1332A>T (n.1332A>T) c.127A>T c.1167+28A>T c.2327A>T (p.Tyr776Phe) c.3455A>T (p.Tyr1152Phe) c.370A>T c.3635A>T (p.Tyr1212Phe) c.3302A>T (p.Tyr1101Phe) | |
7 | g.117627598_117627599delinsAC | CA1737398642 | CFTR | c.3517+28_3517+29delinsAC (n.3517+28_3517+29delinsAC) c.*3259_*3260delinsAC (n.*3259_*3260delinsAC) c.3362_3363delinsAC (p.Tyr1121=) c.3545_3546delinsAC (p.Tyr1182=) c.*198_*199delinsAC (n.*198_*199delinsAC) c.*206_*207delinsAC (n.*206_*207delinsAC) c.*1920_*1921delinsAC (n.*1920_*1921delinsAC) c.3539_3540delinsAC (p.Tyr1180=) c.*3369_*3370delinsAC (n.*3369_*3370delinsAC) c.3119_3120delinsAC (p.Tyr1040=) c.293_294delinsAC (p.Tyr98=) c.1332_1333delinsAC (n.1332_1333delinsAC) c.127_128delinsAC c.1167+28_1167+29delinsAC c.2327_2328delinsAC (p.Tyr776=) c.3455_3456delinsAC (p.Tyr1152=) c.370_371delinsAC c.3635_3636delinsAC (p.Tyr1212=) c.3302_3303delinsAC (p.Tyr1101=) | |
7 | g.117627599del | CA1139660069 | CFTR | c.3517+29del (n.3517+29del) c.*3260del (n.*3260del) c.3363del (p.Tyr1121Ter) c.3546del (p.Tyr1182Ter) c.*199del (n.*199del) c.*207del (n.*207del) c.*1921del (n.*1921del) c.3540del (p.Tyr1180Ter) c.*3370del (n.*3370del) c.3120del (p.Tyr1040Ter) c.294del (p.Tyr98Ter) c.1333del (n.1333del) c.128del c.1167+29del c.2328del (p.Tyr776Ter) c.3456del (p.Tyr1152Ter) c.371del c.3636del (p.Tyr1212Ter) c.3303del (p.Tyr1101Ter) | ClinVar dbSNP |
7 | g.117627599C>A | CA368996342 | CFTR | c.3517+29C>A (n.3517+29C>A) c.*3260C>A (n.*3260C>A) c.3363C>A (p.Tyr1121Ter) c.3546C>A (p.Tyr1182Ter) c.*199C>A (n.*199C>A) c.*207C>A (n.*207C>A) c.*1921C>A (n.*1921C>A) c.3540C>A (p.Tyr1180Ter) c.*3370C>A (n.*3370C>A) c.3120C>A (p.Tyr1040Ter) c.294C>A (p.Tyr98Ter) c.1333C>A (n.1333C>A) c.128C>A c.1167+29C>A c.2328C>A (p.Tyr776Ter) c.3456C>A (p.Tyr1152Ter) c.371C>A c.3636C>A (p.Tyr1212Ter) c.3303C>A (p.Tyr1101Ter) | ClinVar dbSNP |
7 | g.117627599C= | CA1737398643 | CFTR | c.3517+29C= (n.3517+29C=) c.*3260C= (n.*3260C=) c.3363C= (p.Tyr1121=) c.3546C= (p.Tyr1182=) c.*199C= (n.*199C=) c.*207C= (n.*207C=) c.*1921C= (n.*1921C=) c.3540C= (p.Tyr1180=) c.*3370C= (n.*3370C=) c.3120C= (p.Tyr1040=) c.294C= (p.Tyr98=) c.1333C= (n.1333C=) c.128C= c.1167+29C= c.2328C= (p.Tyr776=) c.3456C= (p.Tyr1152=) c.371C= c.3636C= (p.Tyr1212=) c.3303C= (p.Tyr1101=) | |
7 | g.117627599C>G | CA327228 | CFTR | c.3517+29C>G (n.3517+29C>G) c.*3260C>G (n.*3260C>G) c.3363C>G (p.Tyr1121Ter) c.3546C>G (p.Tyr1182Ter) c.*199C>G (n.*199C>G) c.*207C>G (n.*207C>G) c.*1921C>G (n.*1921C>G) c.3540C>G (p.Tyr1180Ter) c.*3370C>G (n.*3370C>G) c.3120C>G (p.Tyr1040Ter) c.294C>G (p.Tyr98Ter) c.1333C>G (n.1333C>G) c.128C>G c.1167+29C>G c.2328C>G (p.Tyr776Ter) c.3456C>G (p.Tyr1152Ter) c.371C>G c.3636C>G (p.Tyr1212Ter) c.3303C>G (p.Tyr1101Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117627599C>T | CA457231209 | CFTR | c.3517+29C>T (n.3517+29C>T) c.*3260C>T (n.*3260C>T) c.3363C>T (p.Tyr1121=) c.3546C>T (p.Tyr1182=) c.*199C>T (n.*199C>T) c.*207C>T (n.*207C>T) c.*1921C>T (n.*1921C>T) c.3540C>T (p.Tyr1180=) c.*3370C>T (n.*3370C>T) c.3120C>T (p.Tyr1040=) c.294C>T (p.Tyr98=) c.1333C>T (n.1333C>T) c.128C>T c.1167+29C>T c.2328C>T (p.Tyr776=) c.3456C>T (p.Tyr1152=) c.371C>T c.3636C>T (p.Tyr1212=) c.3303C>T (p.Tyr1101=) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117627600A>C | CA368996346 | CFTR | c.3517+30A>C (n.3517+30A>C) c.*3261A>C (n.*3261A>C) c.3364A>C (p.Lys1122Gln) c.3547A>C (p.Lys1183Gln) c.*200A>C (n.*200A>C) c.*208A>C (n.*208A>C) c.*1922A>C (n.*1922A>C) c.3541A>C (p.Lys1181Gln) c.*3371A>C (n.*3371A>C) c.3121A>C (p.Lys1041Gln) c.295A>C (p.Lys99Gln) c.1334A>C (n.1334A>C) c.129A>C c.1167+30A>C c.2329A>C (p.Lys777Gln) c.3457A>C (p.Lys1153Gln) c.372A>C c.3637A>C (p.Lys1213Gln) c.3304A>C (p.Lys1102Gln) | |
7 | g.117627600A>G | CA368996347 | CFTR | c.3517+30A>G (n.3517+30A>G) c.*3261A>G (n.*3261A>G) c.3364A>G (p.Lys1122Glu) c.3547A>G (p.Lys1183Glu) c.*200A>G (n.*200A>G) c.*208A>G (n.*208A>G) c.*1922A>G (n.*1922A>G) c.3541A>G (p.Lys1181Glu) c.*3371A>G (n.*3371A>G) c.3121A>G (p.Lys1041Glu) c.295A>G (p.Lys99Glu) c.1334A>G (n.1334A>G) c.129A>G c.1167+30A>G c.2329A>G (p.Lys777Glu) c.3457A>G (p.Lys1153Glu) c.372A>G c.3637A>G (p.Lys1213Glu) c.3304A>G (p.Lys1102Glu) | ClinVar gnomAD v4 |
7 | g.117627600A>T | CA368996349 | CFTR | c.3517+30A>T (n.3517+30A>T) c.*3261A>T (n.*3261A>T) c.3364A>T (p.Lys1122Ter) c.3547A>T (p.Lys1183Ter) c.*200A>T (n.*200A>T) c.*208A>T (n.*208A>T) c.*1922A>T (n.*1922A>T) c.3541A>T (p.Lys1181Ter) c.*3371A>T (n.*3371A>T) c.3121A>T (p.Lys1041Ter) c.295A>T (p.Lys99Ter) c.1334A>T (n.1334A>T) c.129A>T c.1167+30A>T c.2329A>T (p.Lys777Ter) c.3457A>T (p.Lys1153Ter) c.372A>T c.3637A>T (p.Lys1213Ter) c.3304A>T (p.Lys1102Ter) | ClinVar |
7 | g.117627601A>C | CA368996353 | CFTR | c.3517+31A>C (n.3517+31A>C) c.*3262A>C (n.*3262A>C) c.3365A>C (p.Lys1122Thr) c.3548A>C (p.Lys1183Thr) c.*201A>C (n.*201A>C) c.*209A>C (n.*209A>C) c.*1923A>C (n.*1923A>C) c.3542A>C (p.Lys1181Thr) c.*3372A>C (n.*3372A>C) c.3122A>C (p.Lys1041Thr) c.296A>C (p.Lys99Thr) c.1335A>C (n.1335A>C) c.130A>C c.1167+31A>C c.2330A>C (p.Lys777Thr) c.3458A>C (p.Lys1153Thr) c.373A>C c.3638A>C (p.Lys1213Thr) c.3305A>C (p.Lys1102Thr) | |
7 | g.117627601A>G | CA368996351 | CFTR | c.3517+31A>G (n.3517+31A>G) c.*3262A>G (n.*3262A>G) c.3365A>G (p.Lys1122Arg) c.3548A>G (p.Lys1183Arg) c.*201A>G (n.*201A>G) c.*209A>G (n.*209A>G) c.*1923A>G (n.*1923A>G) c.3542A>G (p.Lys1181Arg) c.*3372A>G (n.*3372A>G) c.3122A>G (p.Lys1041Arg) c.296A>G (p.Lys99Arg) c.1335A>G (n.1335A>G) c.130A>G c.1167+31A>G c.2330A>G (p.Lys777Arg) c.3458A>G (p.Lys1153Arg) c.373A>G c.3638A>G (p.Lys1213Arg) c.3305A>G (p.Lys1102Arg) | |
7 | g.117627601A>T | CA368996352 | CFTR | c.3517+31A>T (n.3517+31A>T) c.*3262A>T (n.*3262A>T) c.3365A>T (p.Lys1122Met) c.3548A>T (p.Lys1183Met) c.*201A>T (n.*201A>T) c.*209A>T (n.*209A>T) c.*1923A>T (n.*1923A>T) c.3542A>T (p.Lys1181Met) c.*3372A>T (n.*3372A>T) c.3122A>T (p.Lys1041Met) c.296A>T (p.Lys99Met) c.1335A>T (n.1335A>T) c.130A>T c.1167+31A>T c.2330A>T (p.Lys777Met) c.3458A>T (p.Lys1153Met) c.373A>T c.3638A>T (p.Lys1213Met) c.3305A>T (p.Lys1102Met) | |
7 | g.117627602G>A | CA457231210 | CFTR | c.3517+32G>A (n.3517+32G>A) c.*3263G>A (n.*3263G>A) c.3366G>A (p.Lys1122=) c.3549G>A (p.Lys1183=) c.*202G>A (n.*202G>A) c.*210G>A (n.*210G>A) c.*1924G>A (n.*1924G>A) c.3543G>A (p.Lys1181=) c.*3373G>A (n.*3373G>A) c.3123G>A (p.Lys1041=) c.297G>A (p.Lys99=) c.1336G>A (n.1336G>A) c.131G>A c.1167+32G>A c.2331G>A (p.Lys777=) c.3459G>A (p.Lys1153=) c.374G>A c.3639G>A (p.Lys1213=) c.3306G>A (p.Lys1102=) | |
7 | g.117627602G>C | CA368996354 | CFTR | c.3517+32G>C (n.3517+32G>C) c.*3263G>C (n.*3263G>C) c.3366G>C (p.Lys1122Asn) c.3549G>C (p.Lys1183Asn) c.*202G>C (n.*202G>C) c.*210G>C (n.*210G>C) c.*1924G>C (n.*1924G>C) c.3543G>C (p.Lys1181Asn) c.*3373G>C (n.*3373G>C) c.3123G>C (p.Lys1041Asn) c.297G>C (p.Lys99Asn) c.1336G>C (n.1336G>C) c.131G>C c.1167+32G>C c.2331G>C (p.Lys777Asn) c.3459G>C (p.Lys1153Asn) c.374G>C c.3639G>C (p.Lys1213Asn) c.3306G>C (p.Lys1102Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117627602G= | CA1737398644 | CFTR | c.3517+32G= (n.3517+32G=) c.*3263G= (n.*3263G=) c.3366G= (p.Lys1122=) c.3549G= (p.Lys1183=) c.*202G= (n.*202G=) c.*210G= (n.*210G=) c.*1924G= (n.*1924G=) c.3543G= (p.Lys1181=) c.*3373G= (n.*3373G=) c.3123G= (p.Lys1041=) c.297G= (p.Lys99=) c.1336G= (n.1336G=) c.131G= c.1167+32G= c.2331G= (p.Lys777=) c.3459G= (p.Lys1153=) c.374G= c.3639G= (p.Lys1213=) c.3306G= (p.Lys1102=) | |
7 | g.117627602G>T | CA368996356 | CFTR | c.3517+32G>T (n.3517+32G>T) c.*3263G>T (n.*3263G>T) c.3366G>T (p.Lys1122Asn) c.3549G>T (p.Lys1183Asn) c.*202G>T (n.*202G>T) c.*210G>T (n.*210G>T) c.*1924G>T (n.*1924G>T) c.3543G>T (p.Lys1181Asn) c.*3373G>T (n.*3373G>T) c.3123G>T (p.Lys1041Asn) c.297G>T (p.Lys99Asn) c.1336G>T (n.1336G>T) c.131G>T c.1167+32G>T c.2331G>T (p.Lys777Asn) c.3459G>T (p.Lys1153Asn) c.374G>T c.3639G>T (p.Lys1213Asn) c.3306G>T (p.Lys1102Asn) | |
7 | g.117627603A>C | CA368996359 | CFTR | c.3517+33A>C (n.3517+33A>C) c.*3264A>C (n.*3264A>C) c.3367A>C (p.Asn1123His) c.3550A>C (p.Asn1184His) c.*203A>C (n.*203A>C) c.*211A>C (n.*211A>C) c.*1925A>C (n.*1925A>C) c.3544A>C (p.Asn1182His) c.*3374A>C (n.*3374A>C) c.3124A>C (p.Asn1042His) c.298A>C (p.Asn100His) c.1337A>C (n.1337A>C) c.132A>C c.1167+33A>C c.2332A>C (p.Asn778His) c.3460A>C (p.Asn1154His) c.375A>C c.3640A>C (p.Asn1214His) c.3307A>C (p.Asn1103His) | |
7 | g.117627603A>G | CA368996361 | CFTR | c.3517+33A>G (n.3517+33A>G) c.*3264A>G (n.*3264A>G) c.3367A>G (p.Asn1123Asp) c.3550A>G (p.Asn1184Asp) c.*203A>G (n.*203A>G) c.*211A>G (n.*211A>G) c.*1925A>G (n.*1925A>G) c.3544A>G (p.Asn1182Asp) c.*3374A>G (n.*3374A>G) c.3124A>G (p.Asn1042Asp) c.298A>G (p.Asn100Asp) c.1337A>G (n.1337A>G) c.132A>G c.1167+33A>G c.2332A>G (p.Asn778Asp) c.3460A>G (p.Asn1154Asp) c.375A>G c.3640A>G (p.Asn1214Asp) c.3307A>G (p.Asn1103Asp) | |
7 | g.117627603A>T | CA368996363 | CFTR | c.3517+33A>T (n.3517+33A>T) c.*3264A>T (n.*3264A>T) c.3367A>T (p.Asn1123Tyr) c.3550A>T (p.Asn1184Tyr) c.*203A>T (n.*203A>T) c.*211A>T (n.*211A>T) c.*1925A>T (n.*1925A>T) c.3544A>T (p.Asn1182Tyr) c.*3374A>T (n.*3374A>T) c.3124A>T (p.Asn1042Tyr) c.298A>T (p.Asn100Tyr) c.1337A>T (n.1337A>T) c.132A>T c.1167+33A>T c.2332A>T (p.Asn778Tyr) c.3460A>T (p.Asn1154Tyr) c.375A>T c.3640A>T (p.Asn1214Tyr) c.3307A>T (p.Asn1103Tyr) | |
7 | g.117627604A= | CA1737398645 | CFTR | c.3517+34A= (n.3517+34A=) c.*3265A= (n.*3265A=) c.3368A= (p.Asn1123=) c.3551A= (p.Asn1184=) c.*204A= (n.*204A=) c.*212A= (n.*212A=) c.*1926A= (n.*1926A=) c.3545A= (p.Asn1182=) c.*3375A= (n.*3375A=) c.3125A= (p.Asn1042=) c.299A= (p.Asn100=) c.1338A= (n.1338A=) c.133A= c.1167+34A= c.2333A= (p.Asn778=) c.3461A= (p.Asn1154=) c.376A= c.3641A= (p.Asn1214=) c.3308A= (p.Asn1103=) | |
7 | g.117627604A>C | CA368996365 | CFTR | c.3517+34A>C (n.3517+34A>C) c.*3265A>C (n.*3265A>C) c.3368A>C (p.Asn1123Thr) c.3551A>C (p.Asn1184Thr) c.*204A>C (n.*204A>C) c.*212A>C (n.*212A>C) c.*1926A>C (n.*1926A>C) c.3545A>C (p.Asn1182Thr) c.*3375A>C (n.*3375A>C) c.3125A>C (p.Asn1042Thr) c.299A>C (p.Asn100Thr) c.1338A>C (n.1338A>C) c.133A>C c.1167+34A>C c.2333A>C (p.Asn778Thr) c.3461A>C (p.Asn1154Thr) c.376A>C c.3641A>C (p.Asn1214Thr) c.3308A>C (p.Asn1103Thr) | |
7 | g.117627604A>G | CA368996367 | CFTR | c.3517+34A>G (n.3517+34A>G) c.*3265A>G (n.*3265A>G) c.3368A>G (p.Asn1123Ser) c.3551A>G (p.Asn1184Ser) c.*204A>G (n.*204A>G) c.*212A>G (n.*212A>G) c.*1926A>G (n.*1926A>G) c.3545A>G (p.Asn1182Ser) c.*3375A>G (n.*3375A>G) c.3125A>G (p.Asn1042Ser) c.299A>G (p.Asn100Ser) c.1338A>G (n.1338A>G) c.133A>G c.1167+34A>G c.2333A>G (p.Asn778Ser) c.3461A>G (p.Asn1154Ser) c.376A>G c.3641A>G (p.Asn1214Ser) c.3308A>G (p.Asn1103Ser) | |
7 | g.117627604A>T | CA368996368 | CFTR | c.3517+34A>T (n.3517+34A>T) c.*3265A>T (n.*3265A>T) c.3368A>T (p.Asn1123Ile) c.3551A>T (p.Asn1184Ile) c.*204A>T (n.*204A>T) c.*212A>T (n.*212A>T) c.*1926A>T (n.*1926A>T) c.3545A>T (p.Asn1182Ile) c.*3375A>T (n.*3375A>T) c.3125A>T (p.Asn1042Ile) c.299A>T (p.Asn100Ile) c.1338A>T (n.1338A>T) c.133A>T c.1167+34A>T c.2333A>T (p.Asn778Ile) c.3461A>T (p.Asn1154Ile) c.376A>T c.3641A>T (p.Asn1214Ile) c.3308A>T (p.Asn1103Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627605del | CA2579000254 | CFTR | c.3517+35del (n.3517+35del) c.*3266del (n.*3266del) c.3369del (p.Asn1123LysfsTer8) c.3552del (p.Asn1184LysfsTer8) c.*205del (n.*205del) c.*213del (n.*213del) c.*1927del (n.*1927del) c.3546del (p.Asn1182LysfsTer8) c.*3376del (n.*3376del) c.3126del (p.Asn1042LysfsTer8) c.300del (p.Asn100LysfsTer8) c.1339del (n.1339del) c.134del c.1167+35del c.2334del (p.Asn778LysfsTer8) c.3462del (p.Asn1154LysfsTer8) c.377del c.3642del (p.Asn1214LysfsTer8) c.3309del (p.Asn1103LysfsTer8) | |
7 | g.117627605T>A | CA368996369 | CFTR | c.3517+35T>A (n.3517+35T>A) c.*3266T>A (n.*3266T>A) c.3369T>A (p.Asn1123Lys) c.3552T>A (p.Asn1184Lys) c.*205T>A (n.*205T>A) c.*213T>A (n.*213T>A) c.*1927T>A (n.*1927T>A) c.3546T>A (p.Asn1182Lys) c.*3376T>A (n.*3376T>A) c.3126T>A (p.Asn1042Lys) c.300T>A (p.Asn100Lys) c.1339T>A (n.1339T>A) c.134T>A c.1167+35T>A c.2334T>A (p.Asn778Lys) c.3462T>A (p.Asn1154Lys) c.377T>A c.3642T>A (p.Asn1214Lys) c.3309T>A (p.Asn1103Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117627605T>C | CA457231213 | CFTR | c.3517+35T>C (n.3517+35T>C) c.*3266T>C (n.*3266T>C) c.3369T>C (p.Asn1123=) c.3552T>C (p.Asn1184=) c.*205T>C (n.*205T>C) c.*213T>C (n.*213T>C) c.*1927T>C (n.*1927T>C) c.3546T>C (p.Asn1182=) c.*3376T>C (n.*3376T>C) c.3126T>C (p.Asn1042=) c.300T>C (p.Asn100=) c.1339T>C (n.1339T>C) c.134T>C c.1167+35T>C c.2334T>C (p.Asn778=) c.3462T>C (p.Asn1154=) c.377T>C c.3642T>C (p.Asn1214=) c.3309T>C (p.Asn1103=) | ClinVar |
7 | g.117627605T>G | CA368996371 | CFTR | c.3517+35T>G (n.3517+35T>G) c.*3266T>G (n.*3266T>G) c.3369T>G (p.Asn1123Lys) c.3552T>G (p.Asn1184Lys) c.*205T>G (n.*205T>G) c.*213T>G (n.*213T>G) c.*1927T>G (n.*1927T>G) c.3546T>G (p.Asn1182Lys) c.*3376T>G (n.*3376T>G) c.3126T>G (p.Asn1042Lys) c.300T>G (p.Asn100Lys) c.1339T>G (n.1339T>G) c.134T>G c.1167+35T>G c.2334T>G (p.Asn778Lys) c.3462T>G (p.Asn1154Lys) c.377T>G c.3642T>G (p.Asn1214Lys) c.3309T>G (p.Asn1103Lys) | |
7 | g.117627605T= | CA1737398646 | CFTR | c.3517+35T= (n.3517+35T=) c.*3266T= (n.*3266T=) c.3369T= (p.Asn1123=) c.3552T= (p.Asn1184=) c.*205T= (n.*205T=) c.*213T= (n.*213T=) c.*1927T= (n.*1927T=) c.3546T= (p.Asn1182=) c.*3376T= (n.*3376T=) c.3126T= (p.Asn1042=) c.300T= (p.Asn100=) c.1339T= (n.1339T=) c.134T= c.1167+35T= c.2334T= (p.Asn778=) c.3462T= (p.Asn1154=) c.377T= c.3642T= (p.Asn1214=) c.3309T= (p.Asn1103=) | |
7 | g.117627606G>A | CA368996373 | CFTR | c.3517+36G>A (n.3517+36G>A) c.*3267G>A (n.*3267G>A) c.3370G>A (p.Gly1124Ser) c.3553G>A (p.Gly1185Ser) c.*206G>A (n.*206G>A) c.*214G>A (n.*214G>A) c.*1928G>A (n.*1928G>A) c.3547G>A (p.Gly1183Ser) c.*3377G>A (n.*3377G>A) c.3127G>A (p.Gly1043Ser) c.301G>A (p.Gly101Ser) c.1340G>A (n.1340G>A) c.135G>A c.1167+36G>A c.2335G>A (p.Gly779Ser) c.3463G>A (p.Gly1155Ser) c.378G>A c.3643G>A (p.Gly1215Ser) c.3310G>A (p.Gly1104Ser) | gnomAD v4 |
7 | g.117627606G>C | CA368996374 | CFTR | c.3517+36G>C (n.3517+36G>C) c.*3267G>C (n.*3267G>C) c.3370G>C (p.Gly1124Arg) c.3553G>C (p.Gly1185Arg) c.*206G>C (n.*206G>C) c.*214G>C (n.*214G>C) c.*1928G>C (n.*1928G>C) c.3547G>C (p.Gly1183Arg) c.*3377G>C (n.*3377G>C) c.3127G>C (p.Gly1043Arg) c.301G>C (p.Gly101Arg) c.1340G>C (n.1340G>C) c.135G>C c.1167+36G>C c.2335G>C (p.Gly779Arg) c.3463G>C (p.Gly1155Arg) c.378G>C c.3643G>C (p.Gly1215Arg) c.3310G>C (p.Gly1104Arg) | |
7 | g.117627606G>T | CA368996376 | CFTR | c.3517+36G>T (n.3517+36G>T) c.*3267G>T (n.*3267G>T) c.3370G>T (p.Gly1124Cys) c.3553G>T (p.Gly1185Cys) c.*206G>T (n.*206G>T) c.*214G>T (n.*214G>T) c.*1928G>T (n.*1928G>T) c.3547G>T (p.Gly1183Cys) c.*3377G>T (n.*3377G>T) c.3127G>T (p.Gly1043Cys) c.301G>T (p.Gly101Cys) c.1340G>T (n.1340G>T) c.135G>T c.1167+36G>T c.2335G>T (p.Gly779Cys) c.3463G>T (p.Gly1155Cys) c.378G>T c.3643G>T (p.Gly1215Cys) c.3310G>T (p.Gly1104Cys) | |
7 | g.117627607G>A | CA164976563 | CFTR | c.3517+37G>A (n.3517+37G>A) c.*3268G>A (n.*3268G>A) c.3371G>A (p.Gly1124Asp) c.3554G>A (p.Gly1185Asp) c.*207G>A (n.*207G>A) c.*215G>A (n.*215G>A) c.*1929G>A (n.*1929G>A) c.3548G>A (p.Gly1183Asp) c.*3378G>A (n.*3378G>A) c.3128G>A (p.Gly1043Asp) c.302G>A (p.Gly101Asp) c.1341G>A (n.1341G>A) c.136G>A c.1167+37G>A c.2336G>A (p.Gly779Asp) c.3464G>A (p.Gly1155Asp) c.379G>A c.3644G>A (p.Gly1215Asp) c.3311G>A (p.Gly1104Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117627607G>C | CA368996380 | CFTR | c.3517+37G>C (n.3517+37G>C) c.*3268G>C (n.*3268G>C) c.3371G>C (p.Gly1124Ala) c.3554G>C (p.Gly1185Ala) c.*207G>C (n.*207G>C) c.*215G>C (n.*215G>C) c.*1929G>C (n.*1929G>C) c.3548G>C (p.Gly1183Ala) c.*3378G>C (n.*3378G>C) c.3128G>C (p.Gly1043Ala) c.302G>C (p.Gly101Ala) c.1341G>C (n.1341G>C) c.136G>C c.1167+37G>C c.2336G>C (p.Gly779Ala) c.3464G>C (p.Gly1155Ala) c.379G>C c.3644G>C (p.Gly1215Ala) c.3311G>C (p.Gly1104Ala) | |
7 | g.117627607G= | CA1737398647 | CFTR | c.3517+37G= (n.3517+37G=) c.*3268G= (n.*3268G=) c.3371G= (p.Gly1124=) c.3554G= (p.Gly1185=) c.*207G= (n.*207G=) c.*215G= (n.*215G=) c.*1929G= (n.*1929G=) c.3548G= (p.Gly1183=) c.*3378G= (n.*3378G=) c.3128G= (p.Gly1043=) c.302G= (p.Gly101=) c.1341G= (n.1341G=) c.136G= c.1167+37G= c.2336G= (p.Gly779=) c.3464G= (p.Gly1155=) c.379G= c.3644G= (p.Gly1215=) c.3311G= (p.Gly1104=) | |
7 | g.117627607G>T | CA368996379 | CFTR | c.3517+37G>T (n.3517+37G>T) c.*3268G>T (n.*3268G>T) c.3371G>T (p.Gly1124Val) c.3554G>T (p.Gly1185Val) c.*207G>T (n.*207G>T) c.*215G>T (n.*215G>T) c.*1929G>T (n.*1929G>T) c.3548G>T (p.Gly1183Val) c.*3378G>T (n.*3378G>T) c.3128G>T (p.Gly1043Val) c.302G>T (p.Gly101Val) c.1341G>T (n.1341G>T) c.136G>T c.1167+37G>T c.2336G>T (p.Gly779Val) c.3464G>T (p.Gly1155Val) c.379G>T c.3644G>T (p.Gly1215Val) c.3311G>T (p.Gly1104Val) | |
7 | g.117627608C>A | CA457231215 | CFTR | c.3517+38C>A (n.3517+38C>A) c.*3269C>A (n.*3269C>A) c.3372C>A (p.Gly1124=) c.3555C>A (p.Gly1185=) c.*208C>A (n.*208C>A) c.*216C>A (n.*216C>A) c.*1930C>A (n.*1930C>A) c.3549C>A (p.Gly1183=) c.*3379C>A (n.*3379C>A) c.3129C>A (p.Gly1043=) c.303C>A (p.Gly101=) c.1342C>A (n.1342C>A) c.137C>A c.1167+38C>A c.2337C>A (p.Gly779=) c.3465C>A (p.Gly1155=) c.380C>A c.3645C>A (p.Gly1215=) c.3312C>A (p.Gly1104=) | ClinVar |
7 | g.117627608C>G | CA457231217 | CFTR | c.3517+38C>G (n.3517+38C>G) c.*3269C>G (n.*3269C>G) c.3372C>G (p.Gly1124=) c.3555C>G (p.Gly1185=) c.*208C>G (n.*208C>G) c.*216C>G (n.*216C>G) c.*1930C>G (n.*1930C>G) c.3549C>G (p.Gly1183=) c.*3379C>G (n.*3379C>G) c.3129C>G (p.Gly1043=) c.303C>G (p.Gly101=) c.1342C>G (n.1342C>G) c.137C>G c.1167+38C>G c.2337C>G (p.Gly779=) c.3465C>G (p.Gly1155=) c.380C>G c.3645C>G (p.Gly1215=) c.3312C>G (p.Gly1104=) | |
7 | g.117627608C>T | CA457231219 | CFTR | c.3517+38C>T (n.3517+38C>T) c.*3269C>T (n.*3269C>T) c.3372C>T (p.Gly1124=) c.3555C>T (p.Gly1185=) c.*208C>T (n.*208C>T) c.*216C>T (n.*216C>T) c.*1930C>T (n.*1930C>T) c.3549C>T (p.Gly1183=) c.*3379C>T (n.*3379C>T) c.3129C>T (p.Gly1043=) c.303C>T (p.Gly101=) c.1342C>T (n.1342C>T) c.137C>T c.1167+38C>T c.2337C>T (p.Gly779=) c.3465C>T (p.Gly1155=) c.380C>T c.3645C>T (p.Gly1215=) c.3312C>T (p.Gly1104=) | ClinVar dbSNP |
7 | g.117627609C>A | CA368996382 | CFTR | c.3517+39C>A (n.3517+39C>A) c.*3270C>A (n.*3270C>A) c.3373C>A (p.Gln1125Lys) c.3556C>A (p.Gln1186Lys) c.*209C>A (n.*209C>A) c.*217C>A (n.*217C>A) c.*1931C>A (n.*1931C>A) c.3550C>A (p.Gln1184Lys) c.*3380C>A (n.*3380C>A) c.3130C>A (p.Gln1044Lys) c.304C>A (p.Gln102Lys) c.1343C>A (n.1343C>A) c.138C>A c.1167+39C>A c.2338C>A (p.Gln780Lys) c.3466C>A (p.Gln1156Lys) c.381C>A c.3646C>A (p.Gln1216Lys) c.3313C>A (p.Gln1105Lys) | |
7 | g.117627609C= | CA1737398648 | CFTR | c.3517+39C= (n.3517+39C=) c.*3270C= (n.*3270C=) c.3373C= (p.Gln1125=) c.3556C= (p.Gln1186=) c.*209C= (n.*209C=) c.*217C= (n.*217C=) c.*1931C= (n.*1931C=) c.3550C= (p.Gln1184=) c.*3380C= (n.*3380C=) c.3130C= (p.Gln1044=) c.304C= (p.Gln102=) c.1343C= (n.1343C=) c.138C= c.1167+39C= c.2338C= (p.Gln780=) c.3466C= (p.Gln1156=) c.381C= c.3646C= (p.Gln1216=) c.3313C= (p.Gln1105=) | |
7 | g.117627609C>G | CA368996384 | CFTR | c.3517+39C>G (n.3517+39C>G) c.*3270C>G (n.*3270C>G) c.3373C>G (p.Gln1125Glu) c.3556C>G (p.Gln1186Glu) c.*209C>G (n.*209C>G) c.*217C>G (n.*217C>G) c.*1931C>G (n.*1931C>G) c.3550C>G (p.Gln1184Glu) c.*3380C>G (n.*3380C>G) c.3130C>G (p.Gln1044Glu) c.304C>G (p.Gln102Glu) c.1343C>G (n.1343C>G) c.138C>G c.1167+39C>G c.2338C>G (p.Gln780Glu) c.3466C>G (p.Gln1156Glu) c.381C>G c.3646C>G (p.Gln1216Glu) c.3313C>G (p.Gln1105Glu) | |
7 | g.117627609C>T | CA327230 | CFTR | c.3517+39C>T (n.3517+39C>T) c.*3270C>T (n.*3270C>T) c.3373C>T (p.Gln1125Ter) c.3556C>T (p.Gln1186Ter) c.*209C>T (n.*209C>T) c.*217C>T (n.*217C>T) c.*1931C>T (n.*1931C>T) c.3550C>T (p.Gln1184Ter) c.*3380C>T (n.*3380C>T) c.3130C>T (p.Gln1044Ter) c.304C>T (p.Gln102Ter) c.1343C>T (n.1343C>T) c.138C>T c.1167+39C>T c.2338C>T (p.Gln780Ter) c.3466C>T (p.Gln1156Ter) c.381C>T c.3646C>T (p.Gln1216Ter) c.3313C>T (p.Gln1105Ter) | ClinVar dbSNP |
7 | g.117627610A>C | CA368996388 | CFTR | c.3517+40A>C (n.3517+40A>C) c.*3271A>C (n.*3271A>C) c.3374A>C (p.Gln1125Pro) c.3557A>C (p.Gln1186Pro) c.*210A>C (n.*210A>C) c.*218A>C (n.*218A>C) c.*1932A>C (n.*1932A>C) c.3551A>C (p.Gln1184Pro) c.*3381A>C (n.*3381A>C) c.3131A>C (p.Gln1044Pro) c.305A>C (p.Gln102Pro) c.1344A>C (n.1344A>C) c.139A>C c.1167+40A>C c.2339A>C (p.Gln780Pro) c.3467A>C (p.Gln1156Pro) c.382A>C c.3647A>C (p.Gln1216Pro) c.3314A>C (p.Gln1105Pro) | |
7 | g.117627610A>G | CA368996389 | CFTR | c.3517+40A>G (n.3517+40A>G) c.*3271A>G (n.*3271A>G) c.3374A>G (p.Gln1125Arg) c.3557A>G (p.Gln1186Arg) c.*210A>G (n.*210A>G) c.*218A>G (n.*218A>G) c.*1932A>G (n.*1932A>G) c.3551A>G (p.Gln1184Arg) c.*3381A>G (n.*3381A>G) c.3131A>G (p.Gln1044Arg) c.305A>G (p.Gln102Arg) c.1344A>G (n.1344A>G) c.139A>G c.1167+40A>G c.2339A>G (p.Gln780Arg) c.3467A>G (p.Gln1156Arg) c.382A>G c.3647A>G (p.Gln1216Arg) c.3314A>G (p.Gln1105Arg) | |
7 | g.117627610A>T | CA368996391 | CFTR | c.3517+40A>T (n.3517+40A>T) c.*3271A>T (n.*3271A>T) c.3374A>T (p.Gln1125Leu) c.3557A>T (p.Gln1186Leu) c.*210A>T (n.*210A>T) c.*218A>T (n.*218A>T) c.*1932A>T (n.*1932A>T) c.3551A>T (p.Gln1184Leu) c.*3381A>T (n.*3381A>T) c.3131A>T (p.Gln1044Leu) c.305A>T (p.Gln102Leu) c.1344A>T (n.1344A>T) c.139A>T c.1167+40A>T c.2339A>T (p.Gln780Leu) c.3467A>T (p.Gln1156Leu) c.382A>T c.3647A>T (p.Gln1216Leu) c.3314A>T (p.Gln1105Leu) | |
7 | g.117627611del | CA2695208376 | CFTR | c.3517+41del (n.3517+41del) c.*3272del (n.*3272del) c.3375del (p.Gln1125HisfsTer6) c.3558del (p.Gln1186HisfsTer6) c.*211del (n.*211del) c.*219del (n.*219del) c.*1933del (n.*1933del) c.3552del (p.Gln1184HisfsTer6) c.*3382del (n.*3382del) c.3132del (p.Gln1044HisfsTer6) c.306del (p.Gln102HisfsTer6) c.1345del (n.1345del) c.140del c.1167+41del c.2340del (p.Gln780HisfsTer6) c.3468del (p.Gln1156HisfsTer6) c.383del c.3648del (p.Gln1216HisfsTer6) c.3315del (p.Gln1105HisfsTer6) | |
7 | g.117627611A= | CA1737398649 | CFTR | c.3517+41A= (n.3517+41A=) c.*3272A= (n.*3272A=) c.3375A= (p.Gln1125=) c.3558A= (p.Gln1186=) c.*211A= (n.*211A=) c.*219A= (n.*219A=) c.*1933A= (n.*1933A=) c.3552A= (p.Gln1184=) c.*3382A= (n.*3382A=) c.3132A= (p.Gln1044=) c.306A= (p.Gln102=) c.1345A= (n.1345A=) c.140A= c.1167+41A= c.2340A= (p.Gln780=) c.3468A= (p.Gln1156=) c.383A= c.3648A= (p.Gln1216=) c.3315A= (p.Gln1105=) | |
7 | g.117627611A>C | CA368996393 | CFTR | c.3517+41A>C (n.3517+41A>C) c.*3272A>C (n.*3272A>C) c.3375A>C (p.Gln1125His) c.3558A>C (p.Gln1186His) c.*211A>C (n.*211A>C) c.*219A>C (n.*219A>C) c.*1933A>C (n.*1933A>C) c.3552A>C (p.Gln1184His) c.*3382A>C (n.*3382A>C) c.3132A>C (p.Gln1044His) c.306A>C (p.Gln102His) c.1345A>C (n.1345A>C) c.140A>C c.1167+41A>C c.2340A>C (p.Gln780His) c.3468A>C (p.Gln1156His) c.383A>C c.3648A>C (p.Gln1216His) c.3315A>C (p.Gln1105His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117627611A>G | CA260235 | CFTR | c.3517+41A>G (n.3517+41A>G) c.*3272A>G (n.*3272A>G) c.3375A>G (p.Gln1125=) c.3558A>G (p.Gln1186=) c.*211A>G (n.*211A>G) c.*219A>G (n.*219A>G) c.*1933A>G (n.*1933A>G) c.3552A>G (p.Gln1184=) c.*3382A>G (n.*3382A>G) c.3132A>G (p.Gln1044=) c.306A>G (p.Gln102=) c.1345A>G (n.1345A>G) c.140A>G c.1167+41A>G c.2340A>G (p.Gln780=) c.3468A>G (p.Gln1156=) c.383A>G c.3648A>G (p.Gln1216=) c.3315A>G (p.Gln1105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627611A>T | CA368996396 | CFTR | c.3517+41A>T (n.3517+41A>T) c.*3272A>T (n.*3272A>T) c.3375A>T (p.Gln1125His) c.3558A>T (p.Gln1186His) c.*211A>T (n.*211A>T) c.*219A>T (n.*219A>T) c.*1933A>T (n.*1933A>T) c.3552A>T (p.Gln1184His) c.*3382A>T (n.*3382A>T) c.3132A>T (p.Gln1044His) c.306A>T (p.Gln102His) c.1345A>T (n.1345A>T) c.140A>T c.1167+41A>T c.2340A>T (p.Gln780His) c.3468A>T (p.Gln1156His) c.383A>T c.3648A>T (p.Gln1216His) c.3315A>T (p.Gln1105His) | |
7 | g.117627612C>A | CA4451497 | CFTR | c.3517+42C>A (n.3517+42C>A) c.*3273C>A (n.*3273C>A) c.3376C>A (p.Leu1126Ile) c.3559C>A (p.Leu1187Ile) c.*212C>A (n.*212C>A) c.*220C>A (n.*220C>A) c.*1934C>A (n.*1934C>A) c.3553C>A (p.Leu1185Ile) c.*3383C>A (n.*3383C>A) c.3133C>A (p.Leu1045Ile) c.307C>A (p.Leu103Ile) c.1346C>A (n.1346C>A) c.141C>A c.1167+42C>A c.2341C>A (p.Leu781Ile) c.3469C>A (p.Leu1157Ile) c.384C>A c.3649C>A (p.Leu1217Ile) c.3316C>A (p.Leu1106Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627612C= | CA1737398650 | CFTR | c.3517+42C= (n.3517+42C=) c.*3273C= (n.*3273C=) c.3376C= (p.Leu1126=) c.3559C= (p.Leu1187=) c.*212C= (n.*212C=) c.*220C= (n.*220C=) c.*1934C= (n.*1934C=) c.3553C= (p.Leu1185=) c.*3383C= (n.*3383C=) c.3133C= (p.Leu1045=) c.307C= (p.Leu103=) c.1346C= (n.1346C=) c.141C= c.1167+42C= c.2341C= (p.Leu781=) c.3469C= (p.Leu1157=) c.384C= c.3649C= (p.Leu1217=) c.3316C= (p.Leu1106=) | |
7 | g.117627612C>G | CA4451498 | CFTR | c.3517+42C>G (n.3517+42C>G) c.*3273C>G (n.*3273C>G) c.3376C>G (p.Leu1126Val) c.3559C>G (p.Leu1187Val) c.*212C>G (n.*212C>G) c.*220C>G (n.*220C>G) c.*1934C>G (n.*1934C>G) c.3553C>G (p.Leu1185Val) c.*3383C>G (n.*3383C>G) c.3133C>G (p.Leu1045Val) c.307C>G (p.Leu103Val) c.1346C>G (n.1346C>G) c.141C>G c.1167+42C>G c.2341C>G (p.Leu781Val) c.3469C>G (p.Leu1157Val) c.384C>G c.3649C>G (p.Leu1217Val) c.3316C>G (p.Leu1106Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627612C>T | CA368996400 | CFTR | c.3517+42C>T (n.3517+42C>T) c.*3273C>T (n.*3273C>T) c.3376C>T (p.Leu1126Phe) c.3559C>T (p.Leu1187Phe) c.*212C>T (n.*212C>T) c.*220C>T (n.*220C>T) c.*1934C>T (n.*1934C>T) c.3553C>T (p.Leu1185Phe) c.*3383C>T (n.*3383C>T) c.3133C>T (p.Leu1045Phe) c.307C>T (p.Leu103Phe) c.1346C>T (n.1346C>T) c.141C>T c.1167+42C>T c.2341C>T (p.Leu781Phe) c.3469C>T (p.Leu1157Phe) c.384C>T c.3649C>T (p.Leu1217Phe) c.3316C>T (p.Leu1106Phe) | ClinVar |
7 | g.117627613T>A | CA368996407 | CFTR | c.3517+43T>A (n.3517+43T>A) c.*3274T>A (n.*3274T>A) c.3377T>A (p.Leu1126His) c.3560T>A (p.Leu1187His) c.*213T>A (n.*213T>A) c.*221T>A (n.*221T>A) c.*1935T>A (n.*1935T>A) c.3554T>A (p.Leu1185His) c.*3384T>A (n.*3384T>A) c.3134T>A (p.Leu1045His) c.308T>A (p.Leu103His) c.1347T>A (n.1347T>A) c.142T>A c.1167+43T>A c.2342T>A (p.Leu781His) c.3470T>A (p.Leu1157His) c.385T>A c.3650T>A (p.Leu1217His) c.3317T>A (p.Leu1106His) | |
7 | g.117627613T>C | CA368996405 | CFTR | c.3517+43T>C (n.3517+43T>C) c.*3274T>C (n.*3274T>C) c.3377T>C (p.Leu1126Pro) c.3560T>C (p.Leu1187Pro) c.*213T>C (n.*213T>C) c.*221T>C (n.*221T>C) c.*1935T>C (n.*1935T>C) c.3554T>C (p.Leu1185Pro) c.*3384T>C (n.*3384T>C) c.3134T>C (p.Leu1045Pro) c.308T>C (p.Leu103Pro) c.1347T>C (n.1347T>C) c.142T>C c.1167+43T>C c.2342T>C (p.Leu781Pro) c.3470T>C (p.Leu1157Pro) c.385T>C c.3650T>C (p.Leu1217Pro) c.3317T>C (p.Leu1106Pro) | |
7 | g.117627613T>G | CA368996402 | CFTR | c.3517+43T>G (n.3517+43T>G) c.*3274T>G (n.*3274T>G) c.3377T>G (p.Leu1126Arg) c.3560T>G (p.Leu1187Arg) c.*213T>G (n.*213T>G) c.*221T>G (n.*221T>G) c.*1935T>G (n.*1935T>G) c.3554T>G (p.Leu1185Arg) c.*3384T>G (n.*3384T>G) c.3134T>G (p.Leu1045Arg) c.308T>G (p.Leu103Arg) c.1347T>G (n.1347T>G) c.142T>G c.1167+43T>G c.2342T>G (p.Leu781Arg) c.3470T>G (p.Leu1157Arg) c.385T>G c.3650T>G (p.Leu1217Arg) c.3317T>G (p.Leu1106Arg) | |
7 | g.117627614C>A | CA457231222 | CFTR | c.3517+44C>A (n.3517+44C>A) c.*3275C>A (n.*3275C>A) c.3378C>A (p.Leu1126=) c.3561C>A (p.Leu1187=) c.*214C>A (n.*214C>A) c.*222C>A (n.*222C>A) c.*1936C>A (n.*1936C>A) c.3555C>A (p.Leu1185=) c.*3385C>A (n.*3385C>A) c.3135C>A (p.Leu1045=) c.309C>A (p.Leu103=) c.1348C>A (n.1348C>A) c.143C>A c.1167+44C>A c.2343C>A (p.Leu781=) c.3471C>A (p.Leu1157=) c.386C>A c.3651C>A (p.Leu1217=) c.3318C>A (p.Leu1106=) | |
7 | g.117627614C>G | CA457231223 | CFTR | c.3517+44C>G (n.3517+44C>G) c.*3275C>G (n.*3275C>G) c.3378C>G (p.Leu1126=) c.3561C>G (p.Leu1187=) c.*214C>G (n.*214C>G) c.*222C>G (n.*222C>G) c.*1936C>G (n.*1936C>G) c.3555C>G (p.Leu1185=) c.*3385C>G (n.*3385C>G) c.3135C>G (p.Leu1045=) c.309C>G (p.Leu103=) c.1348C>G (n.1348C>G) c.143C>G c.1167+44C>G c.2343C>G (p.Leu781=) c.3471C>G (p.Leu1157=) c.386C>G c.3651C>G (p.Leu1217=) c.3318C>G (p.Leu1106=) | |
7 | g.117627614C>T | CA457231224 | CFTR | c.3517+44C>T (n.3517+44C>T) c.*3275C>T (n.*3275C>T) c.3378C>T (p.Leu1126=) c.3561C>T (p.Leu1187=) c.*214C>T (n.*214C>T) c.*222C>T (n.*222C>T) c.*1936C>T (n.*1936C>T) c.3555C>T (p.Leu1185=) c.*3385C>T (n.*3385C>T) c.3135C>T (p.Leu1045=) c.309C>T (p.Leu103=) c.1348C>T (n.1348C>T) c.143C>T c.1167+44C>T c.2343C>T (p.Leu781=) c.3471C>T (p.Leu1157=) c.386C>T c.3651C>T (p.Leu1217=) c.3318C>T (p.Leu1106=) | |
7 | g.117627615T>A | CA368996408 | CFTR | c.3517+45T>A (n.3517+45T>A) c.*3276T>A (n.*3276T>A) c.3379T>A (p.Ser1127Thr) c.3562T>A (p.Ser1188Thr) c.*215T>A (n.*215T>A) c.*223T>A (n.*223T>A) c.*1937T>A (n.*1937T>A) c.3556T>A (p.Ser1186Thr) c.*3386T>A (n.*3386T>A) c.3136T>A (p.Ser1046Thr) c.310T>A (p.Ser104Thr) c.1349T>A (n.1349T>A) c.144T>A c.1167+45T>A c.2344T>A (p.Ser782Thr) c.3472T>A (p.Ser1158Thr) c.387T>A c.3652T>A (p.Ser1218Thr) c.3319T>A (p.Ser1107Thr) | |
7 | g.117627615T>C | CA4451499 | CFTR | c.3517+45T>C (n.3517+45T>C) c.*3276T>C (n.*3276T>C) c.3379T>C (p.Ser1127Pro) c.3562T>C (p.Ser1188Pro) c.*215T>C (n.*215T>C) c.*223T>C (n.*223T>C) c.*1937T>C (n.*1937T>C) c.3556T>C (p.Ser1186Pro) c.*3386T>C (n.*3386T>C) c.3136T>C (p.Ser1046Pro) c.310T>C (p.Ser104Pro) c.1349T>C (n.1349T>C) c.144T>C c.1167+45T>C c.2344T>C (p.Ser782Pro) c.3472T>C (p.Ser1158Pro) c.387T>C c.3652T>C (p.Ser1218Pro) c.3319T>C (p.Ser1107Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627615T>G | CA368996411 | CFTR | c.3517+45T>G (n.3517+45T>G) c.*3276T>G (n.*3276T>G) c.3379T>G (p.Ser1127Ala) c.3562T>G (p.Ser1188Ala) c.*215T>G (n.*215T>G) c.*223T>G (n.*223T>G) c.*1937T>G (n.*1937T>G) c.3556T>G (p.Ser1186Ala) c.*3386T>G (n.*3386T>G) c.3136T>G (p.Ser1046Ala) c.310T>G (p.Ser104Ala) c.1349T>G (n.1349T>G) c.144T>G c.1167+45T>G c.2344T>G (p.Ser782Ala) c.3472T>G (p.Ser1158Ala) c.387T>G c.3652T>G (p.Ser1218Ala) c.3319T>G (p.Ser1107Ala) | |
7 | g.117627615T= | CA1737398651 | CFTR | c.3517+45T= (n.3517+45T=) c.*3276T= (n.*3276T=) c.3379T= (p.Ser1127=) c.3562T= (p.Ser1188=) c.*215T= (n.*215T=) c.*223T= (n.*223T=) c.*1937T= (n.*1937T=) c.3556T= (p.Ser1186=) c.*3386T= (n.*3386T=) c.3136T= (p.Ser1046=) c.310T= (p.Ser104=) c.1349T= (n.1349T=) c.144T= c.1167+45T= c.2344T= (p.Ser782=) c.3472T= (p.Ser1158=) c.387T= c.3652T= (p.Ser1218=) c.3319T= (p.Ser1107=) | |
7 | g.117627616C>A | CA368996413 | CFTR | c.3517+46C>A (n.3517+46C>A) c.*3277C>A (n.*3277C>A) c.3380C>A (p.Ser1127Ter) c.3563C>A (p.Ser1188Ter) c.*216C>A (n.*216C>A) c.*224C>A (n.*224C>A) c.*1938C>A (n.*1938C>A) c.3557C>A (p.Ser1186Ter) c.*3387C>A (n.*3387C>A) c.3137C>A (p.Ser1046Ter) c.311C>A (p.Ser104Ter) c.1350C>A (n.1350C>A) c.145C>A c.1167+46C>A c.2345C>A (p.Ser782Ter) c.3473C>A (p.Ser1158Ter) c.388C>A c.3653C>A (p.Ser1218Ter) c.3320C>A (p.Ser1107Ter) | dbSNP |
7 | g.117627616C= | CA1737398652 | CFTR | c.3517+46C= (n.3517+46C=) c.*3277C= (n.*3277C=) c.3380C= (p.Ser1127=) c.3563C= (p.Ser1188=) c.*216C= (n.*216C=) c.*224C= (n.*224C=) c.*1938C= (n.*1938C=) c.3557C= (p.Ser1186=) c.*3387C= (n.*3387C=) c.3137C= (p.Ser1046=) c.311C= (p.Ser104=) c.1350C= (n.1350C=) c.145C= c.1167+46C= c.2345C= (p.Ser782=) c.3473C= (p.Ser1158=) c.388C= c.3653C= (p.Ser1218=) c.3320C= (p.Ser1107=) | |
7 | g.117627616C>G | CA368996415 | CFTR | c.3517+46C>G (n.3517+46C>G) c.*3277C>G (n.*3277C>G) c.3380C>G (p.Ser1127Trp) c.3563C>G (p.Ser1188Trp) c.*216C>G (n.*216C>G) c.*224C>G (n.*224C>G) c.*1938C>G (n.*1938C>G) c.3557C>G (p.Ser1186Trp) c.*3387C>G (n.*3387C>G) c.3137C>G (p.Ser1046Trp) c.311C>G (p.Ser104Trp) c.1350C>G (n.1350C>G) c.145C>G c.1167+46C>G c.2345C>G (p.Ser782Trp) c.3473C>G (p.Ser1158Trp) c.388C>G c.3653C>G (p.Ser1218Trp) c.3320C>G (p.Ser1107Trp) | |
7 | g.117627616C>T | CA164976575 | CFTR | c.3517+46C>T (n.3517+46C>T) c.*3277C>T (n.*3277C>T) c.3380C>T (p.Ser1127Leu) c.3563C>T (p.Ser1188Leu) c.*216C>T (n.*216C>T) c.*224C>T (n.*224C>T) c.*1938C>T (n.*1938C>T) c.3557C>T (p.Ser1186Leu) c.*3387C>T (n.*3387C>T) c.3137C>T (p.Ser1046Leu) c.311C>T (p.Ser104Leu) c.1350C>T (n.1350C>T) c.145C>T c.1167+46C>T c.2345C>T (p.Ser782Leu) c.3473C>T (p.Ser1158Leu) c.388C>T c.3653C>T (p.Ser1218Leu) c.3320C>T (p.Ser1107Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117627617G>A | CA221027 | CFTR | c.3517+47G>A (n.3517+47G>A) c.*3278G>A (n.*3278G>A) c.3381G>A (p.Ser1127=) c.3564G>A (p.Ser1188=) c.*217G>A (n.*217G>A) c.*225G>A (n.*225G>A) c.*1939G>A (n.*1939G>A) c.3558G>A (p.Ser1186=) c.*3388G>A (n.*3388G>A) c.3138G>A (p.Ser1046=) c.312G>A (p.Ser104=) c.1351G>A (n.1351G>A) c.146G>A c.1167+47G>A c.2346G>A (p.Ser782=) c.3474G>A (p.Ser1158=) c.389G>A c.3654G>A (p.Ser1218=) c.3321G>A (p.Ser1107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627617G>C | CA457231227 | CFTR | c.3517+47G>C (n.3517+47G>C) c.*3278G>C (n.*3278G>C) c.3381G>C (p.Ser1127=) c.3564G>C (p.Ser1188=) c.*217G>C (n.*217G>C) c.*225G>C (n.*225G>C) c.*1939G>C (n.*1939G>C) c.3558G>C (p.Ser1186=) c.*3388G>C (n.*3388G>C) c.3138G>C (p.Ser1046=) c.312G>C (p.Ser104=) c.1351G>C (n.1351G>C) c.146G>C c.1167+47G>C c.2346G>C (p.Ser782=) c.3474G>C (p.Ser1158=) c.389G>C c.3654G>C (p.Ser1218=) c.3321G>C (p.Ser1107=) | |
7 | g.117627617G= | CA1737398653 | CFTR | c.3517+47G= (n.3517+47G=) c.*3278G= (n.*3278G=) c.3381G= (p.Ser1127=) c.3564G= (p.Ser1188=) c.*217G= (n.*217G=) c.*225G= (n.*225G=) c.*1939G= (n.*1939G=) c.3558G= (p.Ser1186=) c.*3388G= (n.*3388G=) c.3138G= (p.Ser1046=) c.312G= (p.Ser104=) c.1351G= (n.1351G=) c.146G= c.1167+47G= c.2346G= (p.Ser782=) c.3474G= (p.Ser1158=) c.389G= c.3654G= (p.Ser1218=) c.3321G= (p.Ser1107=) | |
7 | g.117627617G>T | CA457231226 | CFTR | c.3517+47G>T (n.3517+47G>T) c.*3278G>T (n.*3278G>T) c.3381G>T (p.Ser1127=) c.3564G>T (p.Ser1188=) c.*217G>T (n.*217G>T) c.*225G>T (n.*225G>T) c.*1939G>T (n.*1939G>T) c.3558G>T (p.Ser1186=) c.*3388G>T (n.*3388G>T) c.3138G>T (p.Ser1046=) c.312G>T (p.Ser104=) c.1351G>T (n.1351G>T) c.146G>T c.1167+47G>T c.2346G>T (p.Ser782=) c.3474G>T (p.Ser1158=) c.389G>T c.3654G>T (p.Ser1218=) c.3321G>T (p.Ser1107=) | |
7 | g.117627617_117627643dup | CA2580614244 | CFTR | c.3517+47_3517+73dup (n.3517+47_3517+73dup) c.*3278_*3304dup (n.*3278_*3304dup) c.3381_3407dup (p.Ser1135_His1136insGlnLysValMetIleIleGluAsnSer) c.3564_3590dup (p.Ser1196_His1197insGlnLysValMetIleIleGluAsnSer) c.*217_*243dup (n.*217_*243dup) c.*225_*251dup (n.*225_*251dup) c.*1939_*1965dup (n.*1939_*1965dup) c.3558_3584dup (p.Ser1194_His1195insGlnLysValMetIleIleGluAsnSer) c.*3388_*3414dup (n.*3388_*3414dup) c.3138_3164dup (p.Ser1054_His1055insGlnLysValMetIleIleGluAsnSer) c.312_338dup (p.Ser112_His113insGlnLysValMetIleIleGluAsnSer) c.1351_1377dup (n.1351_1377dup) c.146_172dup c.1167+47_1167+73dup c.2346_2372dup (p.Ser790_His791insGlnLysValMetIleIleGluAsnSer) c.3474_3500dup (p.Ser1166_His1167insGlnLysValMetIleIleGluAsnSer) c.389_415dup c.3654_3680dup (p.Ser1226_His1227insGlnLysValMetIleIleGluAsnSer) c.3321_3347dup (p.Ser1115_His1116insGlnLysValMetIleIleGluAsnSer) | ClinVar |
7 | g.117627618A>C | CA368996419 | CFTR | c.3517+48A>C (n.3517+48A>C) c.*3279A>C (n.*3279A>C) c.3382A>C (p.Lys1128Gln) c.3565A>C (p.Lys1189Gln) c.*218A>C (n.*218A>C) c.*226A>C (n.*226A>C) c.*1940A>C (n.*1940A>C) c.3559A>C (p.Lys1187Gln) c.*3389A>C (n.*3389A>C) c.3139A>C (p.Lys1047Gln) c.313A>C (p.Lys105Gln) c.1352A>C (n.1352A>C) c.147A>C c.1167+48A>C c.2347A>C (p.Lys783Gln) c.3475A>C (p.Lys1159Gln) c.390A>C c.3655A>C (p.Lys1219Gln) c.3322A>C (p.Lys1108Gln) | |
7 | g.117627618A>G | CA368996420 | CFTR | c.3517+48A>G (n.3517+48A>G) c.*3279A>G (n.*3279A>G) c.3382A>G (p.Lys1128Glu) c.3565A>G (p.Lys1189Glu) c.*218A>G (n.*218A>G) c.*226A>G (n.*226A>G) c.*1940A>G (n.*1940A>G) c.3559A>G (p.Lys1187Glu) c.*3389A>G (n.*3389A>G) c.3139A>G (p.Lys1047Glu) c.313A>G (p.Lys105Glu) c.1352A>G (n.1352A>G) c.147A>G c.1167+48A>G c.2347A>G (p.Lys783Glu) c.3475A>G (p.Lys1159Glu) c.390A>G c.3655A>G (p.Lys1219Glu) c.3322A>G (p.Lys1108Glu) | gnomAD v4 |
7 | g.117627618A>T | CA368996422 | CFTR | c.3517+48A>T (n.3517+48A>T) c.*3279A>T (n.*3279A>T) c.3382A>T (p.Lys1128Ter) c.3565A>T (p.Lys1189Ter) c.*218A>T (n.*218A>T) c.*226A>T (n.*226A>T) c.*1940A>T (n.*1940A>T) c.3559A>T (p.Lys1187Ter) c.*3389A>T (n.*3389A>T) c.3139A>T (p.Lys1047Ter) c.313A>T (p.Lys105Ter) c.1352A>T (n.1352A>T) c.147A>T c.1167+48A>T c.2347A>T (p.Lys783Ter) c.3475A>T (p.Lys1159Ter) c.390A>T c.3655A>T (p.Lys1219Ter) c.3322A>T (p.Lys1108Ter) | |
7 | g.117627620dup | CA2580076339 | CFTR | c.3517+50dup (n.3517+50dup) c.*3281dup (n.*3281dup) c.3384dup (p.Val1129SerfsTer5) c.3567dup (p.Val1190SerfsTer5) c.*220dup (n.*220dup) c.*228dup (n.*228dup) c.*1942dup (n.*1942dup) c.3561dup (p.Val1188SerfsTer5) c.*3391dup (n.*3391dup) c.3141dup (p.Val1048SerfsTer5) c.315dup (p.Val106SerfsTer5) c.1354dup (n.1354dup) c.149dup c.1167+50dup c.2349dup (p.Val784SerfsTer5) c.3477dup (p.Val1160SerfsTer5) c.392dup c.3657dup (p.Val1220SerfsTer5) c.3324dup (p.Val1109SerfsTer5) | ClinVar |
7 | g.117627619A>C | CA368996425 | CFTR | c.3517+49A>C (n.3517+49A>C) c.*3280A>C (n.*3280A>C) c.3383A>C (p.Lys1128Thr) c.3566A>C (p.Lys1189Thr) c.*219A>C (n.*219A>C) c.*227A>C (n.*227A>C) c.*1941A>C (n.*1941A>C) c.3560A>C (p.Lys1187Thr) c.*3390A>C (n.*3390A>C) c.3140A>C (p.Lys1047Thr) c.314A>C (p.Lys105Thr) c.1353A>C (n.1353A>C) c.148A>C c.1167+49A>C c.2348A>C (p.Lys783Thr) c.3476A>C (p.Lys1159Thr) c.391A>C c.3656A>C (p.Lys1219Thr) c.3323A>C (p.Lys1108Thr) | |
7 | g.117627619A>G | CA368996426 | CFTR | c.3517+49A>G (n.3517+49A>G) c.*3280A>G (n.*3280A>G) c.3383A>G (p.Lys1128Arg) c.3566A>G (p.Lys1189Arg) c.*219A>G (n.*219A>G) c.*227A>G (n.*227A>G) c.*1941A>G (n.*1941A>G) c.3560A>G (p.Lys1187Arg) c.*3390A>G (n.*3390A>G) c.3140A>G (p.Lys1047Arg) c.314A>G (p.Lys105Arg) c.1353A>G (n.1353A>G) c.148A>G c.1167+49A>G c.2348A>G (p.Lys783Arg) c.3476A>G (p.Lys1159Arg) c.391A>G c.3656A>G (p.Lys1219Arg) c.3323A>G (p.Lys1108Arg) | |
7 | g.117627619A>T | CA368996428 | CFTR | c.3517+49A>T (n.3517+49A>T) c.*3280A>T (n.*3280A>T) c.3383A>T (p.Lys1128Ile) c.3566A>T (p.Lys1189Ile) c.*219A>T (n.*219A>T) c.*227A>T (n.*227A>T) c.*1941A>T (n.*1941A>T) c.3560A>T (p.Lys1187Ile) c.*3390A>T (n.*3390A>T) c.3140A>T (p.Lys1047Ile) c.314A>T (p.Lys105Ile) c.1353A>T (n.1353A>T) c.148A>T c.1167+49A>T c.2348A>T (p.Lys783Ile) c.3476A>T (p.Lys1159Ile) c.391A>T c.3656A>T (p.Lys1219Ile) c.3323A>T (p.Lys1108Ile) | |
7 | g.117627620A>C | CA368996430 | CFTR | c.3517+50A>C (n.3517+50A>C) c.*3281A>C (n.*3281A>C) c.3384A>C (p.Lys1128Asn) c.3567A>C (p.Lys1189Asn) c.*220A>C (n.*220A>C) c.*228A>C (n.*228A>C) c.*1942A>C (n.*1942A>C) c.3561A>C (p.Lys1187Asn) c.*3391A>C (n.*3391A>C) c.3141A>C (p.Lys1047Asn) c.315A>C (p.Lys105Asn) c.1354A>C (n.1354A>C) c.149A>C c.1167+50A>C c.2349A>C (p.Lys783Asn) c.3477A>C (p.Lys1159Asn) c.392A>C c.3657A>C (p.Lys1219Asn) c.3324A>C (p.Lys1108Asn) | |
7 | g.117627620A>G | CA457231231 | CFTR | c.3517+50A>G (n.3517+50A>G) c.*3281A>G (n.*3281A>G) c.3384A>G (p.Lys1128=) c.3567A>G (p.Lys1189=) c.*220A>G (n.*220A>G) c.*228A>G (n.*228A>G) c.*1942A>G (n.*1942A>G) c.3561A>G (p.Lys1187=) c.*3391A>G (n.*3391A>G) c.3141A>G (p.Lys1047=) c.315A>G (p.Lys105=) c.1354A>G (n.1354A>G) c.149A>G c.1167+50A>G c.2349A>G (p.Lys783=) c.3477A>G (p.Lys1159=) c.392A>G c.3657A>G (p.Lys1219=) c.3324A>G (p.Lys1108=) | ClinVar |
7 | g.117627620A>T | CA368996432 | CFTR | c.3517+50A>T (n.3517+50A>T) c.*3281A>T (n.*3281A>T) c.3384A>T (p.Lys1128Asn) c.3567A>T (p.Lys1189Asn) c.*220A>T (n.*220A>T) c.*228A>T (n.*228A>T) c.*1942A>T (n.*1942A>T) c.3561A>T (p.Lys1187Asn) c.*3391A>T (n.*3391A>T) c.3141A>T (p.Lys1047Asn) c.315A>T (p.Lys105Asn) c.1354A>T (n.1354A>T) c.149A>T c.1167+50A>T c.2349A>T (p.Lys783Asn) c.3477A>T (p.Lys1159Asn) c.392A>T c.3657A>T (p.Lys1219Asn) c.3324A>T (p.Lys1108Asn) | |
7 | g.117627621G>A | CA368996433 | CFTR | c.3517+51G>A (n.3517+51G>A) c.*3282G>A (n.*3282G>A) c.3385G>A (p.Val1129Ile) c.3568G>A (p.Val1190Ile) c.*221G>A (n.*221G>A) c.*229G>A (n.*229G>A) c.*1943G>A (n.*1943G>A) c.3562G>A (p.Val1188Ile) c.*3392G>A (n.*3392G>A) c.3142G>A (p.Val1048Ile) c.316G>A (p.Val106Ile) c.1355G>A (n.1355G>A) c.150G>A c.1167+51G>A c.2350G>A (p.Val784Ile) c.3478G>A (p.Val1160Ile) c.393G>A c.3658G>A (p.Val1220Ile) c.3325G>A (p.Val1109Ile) | ClinVar |
7 | g.117627621G>C | CA368996438 | CFTR | c.3517+51G>C (n.3517+51G>C) c.*3282G>C (n.*3282G>C) c.3385G>C (p.Val1129Leu) c.3568G>C (p.Val1190Leu) c.*221G>C (n.*221G>C) c.*229G>C (n.*229G>C) c.*1943G>C (n.*1943G>C) c.3562G>C (p.Val1188Leu) c.*3392G>C (n.*3392G>C) c.3142G>C (p.Val1048Leu) c.316G>C (p.Val106Leu) c.1355G>C (n.1355G>C) c.150G>C c.1167+51G>C c.2350G>C (p.Val784Leu) c.3478G>C (p.Val1160Leu) c.393G>C c.3658G>C (p.Val1220Leu) c.3325G>C (p.Val1109Leu) | COSMIC |
7 | g.117627621G>T | CA368996436 | CFTR | c.3517+51G>T (n.3517+51G>T) c.*3282G>T (n.*3282G>T) c.3385G>T (p.Val1129Phe) c.3568G>T (p.Val1190Phe) c.*221G>T (n.*221G>T) c.*229G>T (n.*229G>T) c.*1943G>T (n.*1943G>T) c.3562G>T (p.Val1188Phe) c.*3392G>T (n.*3392G>T) c.3142G>T (p.Val1048Phe) c.316G>T (p.Val106Phe) c.1355G>T (n.1355G>T) c.150G>T c.1167+51G>T c.2350G>T (p.Val784Phe) c.3478G>T (p.Val1160Phe) c.393G>T c.3658G>T (p.Val1220Phe) c.3325G>T (p.Val1109Phe) | gnomAD v4 |
7 | g.117627621_117627623delinsGTT | CA1737398654 | CFTR | c.3517+51_3517+53delinsGTT (n.3517+51_3517+53delinsGTT) c.*3282_*3284delinsGTT (n.*3282_*3284delinsGTT) c.3385_3387delinsGTT (p.Val1129=) c.3568_3570delinsGTT (p.Val1190=) c.*221_*223delinsGTT (n.*221_*223delinsGTT) c.*229_*231delinsGTT (n.*229_*231delinsGTT) c.*1943_*1945delinsGTT (n.*1943_*1945delinsGTT) c.3562_3564delinsGTT (p.Val1188=) c.*3392_*3394delinsGTT (n.*3392_*3394delinsGTT) c.3142_3144delinsGTT (p.Val1048=) c.316_318delinsGTT (p.Val106=) c.1355_1357delinsGTT (n.1355_1357delinsGTT) c.150_152delinsGTT c.1167+51_1167+53delinsGTT c.2350_2352delinsGTT (p.Val784=) c.3478_3480delinsGTT (p.Val1160=) c.393_395delinsGTT c.3658_3660delinsGTT (p.Val1220=) c.3325_3327delinsGTT (p.Val1109=) | |
7 | g.117627622T>A | CA368996439 | CFTR | c.3517+52T>A (n.3517+52T>A) c.*3283T>A (n.*3283T>A) c.3386T>A (p.Val1129Asp) c.3569T>A (p.Val1190Asp) c.*222T>A (n.*222T>A) c.*230T>A (n.*230T>A) c.*1944T>A (n.*1944T>A) c.3563T>A (p.Val1188Asp) c.*3393T>A (n.*3393T>A) c.3143T>A (p.Val1048Asp) c.317T>A (p.Val106Asp) c.1356T>A (n.1356T>A) c.151T>A c.1167+52T>A c.2351T>A (p.Val784Asp) c.3479T>A (p.Val1160Asp) c.394T>A c.3659T>A (p.Val1220Asp) c.3326T>A (p.Val1109Asp) | |
7 | g.117627622T>C | CA368996440 | CFTR | c.3517+52T>C (n.3517+52T>C) c.*3283T>C (n.*3283T>C) c.3386T>C (p.Val1129Ala) c.3569T>C (p.Val1190Ala) c.*222T>C (n.*222T>C) c.*230T>C (n.*230T>C) c.*1944T>C (n.*1944T>C) c.3563T>C (p.Val1188Ala) c.*3393T>C (n.*3393T>C) c.3143T>C (p.Val1048Ala) c.317T>C (p.Val106Ala) c.1356T>C (n.1356T>C) c.151T>C c.1167+52T>C c.2351T>C (p.Val784Ala) c.3479T>C (p.Val1160Ala) c.394T>C c.3659T>C (p.Val1220Ala) c.3326T>C (p.Val1109Ala) | |
7 | g.117627622T>G | CA368996441 | CFTR | c.3517+52T>G (n.3517+52T>G) c.*3283T>G (n.*3283T>G) c.3386T>G (p.Val1129Gly) c.3569T>G (p.Val1190Gly) c.*222T>G (n.*222T>G) c.*230T>G (n.*230T>G) c.*1944T>G (n.*1944T>G) c.3563T>G (p.Val1188Gly) c.*3393T>G (n.*3393T>G) c.3143T>G (p.Val1048Gly) c.317T>G (p.Val106Gly) c.1356T>G (n.1356T>G) c.151T>G c.1167+52T>G c.2351T>G (p.Val784Gly) c.3479T>G (p.Val1160Gly) c.394T>G c.3659T>G (p.Val1220Gly) c.3326T>G (p.Val1109Gly) | |
7 | g.117627622_117627623del | CA913189837 | CFTR | c.3517+52_3517+53del (n.3517+52_3517+53del) c.*3283_*3284del (n.*3283_*3284del) c.3386_3387del (p.Val1129AspfsTer4) c.3569_3570del (p.Val1190AspfsTer4) c.*222_*223del (n.*222_*223del) c.*230_*231del (n.*230_*231del) c.*1944_*1945del (n.*1944_*1945del) c.3563_3564del (p.Val1188AspfsTer4) c.*3393_*3394del (n.*3393_*3394del) c.3143_3144del (p.Val1048AspfsTer4) c.317_318del (p.Val106AspfsTer4) c.1356_1357del (n.1356_1357del) c.151_152del c.1167+52_1167+53del c.2351_2352del (p.Val784AspfsTer4) c.3479_3480del (p.Val1160AspfsTer4) c.394_395del c.3659_3660del (p.Val1220AspfsTer4) c.3326_3327del (p.Val1109AspfsTer4) | ClinVar dbSNP |
7 | g.117627623T>A | CA457231234 | CFTR | c.3517+53T>A (n.3517+53T>A) c.*3284T>A (n.*3284T>A) c.3387T>A (p.Val1129=) c.3570T>A (p.Val1190=) c.*223T>A (n.*223T>A) c.*231T>A (n.*231T>A) c.*1945T>A (n.*1945T>A) c.3564T>A (p.Val1188=) c.*3394T>A (n.*3394T>A) c.3144T>A (p.Val1048=) c.318T>A (p.Val106=) c.1357T>A (n.1357T>A) c.152T>A c.1167+53T>A c.2352T>A (p.Val784=) c.3480T>A (p.Val1160=) c.395T>A c.3660T>A (p.Val1220=) c.3327T>A (p.Val1109=) | |
7 | g.117627623T>C | CA457231233 | CFTR | c.3517+53T>C (n.3517+53T>C) c.*3284T>C (n.*3284T>C) c.3387T>C (p.Val1129=) c.3570T>C (p.Val1190=) c.*223T>C (n.*223T>C) c.*231T>C (n.*231T>C) c.*1945T>C (n.*1945T>C) c.3564T>C (p.Val1188=) c.*3394T>C (n.*3394T>C) c.3144T>C (p.Val1048=) c.318T>C (p.Val106=) c.1357T>C (n.1357T>C) c.152T>C c.1167+53T>C c.2352T>C (p.Val784=) c.3480T>C (p.Val1160=) c.395T>C c.3660T>C (p.Val1220=) c.3327T>C (p.Val1109=) | |
7 | g.117627623T>G | CA457231232 | CFTR | c.3517+53T>G (n.3517+53T>G) c.*3284T>G (n.*3284T>G) c.3387T>G (p.Val1129=) c.3570T>G (p.Val1190=) c.*223T>G (n.*223T>G) c.*231T>G (n.*231T>G) c.*1945T>G (n.*1945T>G) c.3564T>G (p.Val1188=) c.*3394T>G (n.*3394T>G) c.3144T>G (p.Val1048=) c.318T>G (p.Val106=) c.1357T>G (n.1357T>G) c.152T>G c.1167+53T>G c.2352T>G (p.Val784=) c.3480T>G (p.Val1160=) c.395T>G c.3660T>G (p.Val1220=) c.3327T>G (p.Val1109=) | |
7 | g.117627624A= | CA1737398655 | CFTR | c.3517+54A= (n.3517+54A=) c.*3285A= (n.*3285A=) c.3388A= (p.Met1130=) c.3571A= (p.Met1191=) c.*224A= (n.*224A=) c.*232A= (n.*232A=) c.*1946A= (n.*1946A=) c.3565A= (p.Met1189=) c.*3395A= (n.*3395A=) c.3145A= (p.Met1049=) c.319A= (p.Met107=) c.1358A= (n.1358A=) c.153A= c.1167+54A= c.2353A= (p.Met785=) c.3481A= (p.Met1161=) c.396A= c.3661A= (p.Met1221=) c.3328A= (p.Met1110=) | |
7 | g.117627624A>C | CA368996444 | CFTR | c.3517+54A>C (n.3517+54A>C) c.*3285A>C (n.*3285A>C) c.3388A>C (p.Met1130Leu) c.3571A>C (p.Met1191Leu) c.*224A>C (n.*224A>C) c.*232A>C (n.*232A>C) c.*1946A>C (n.*1946A>C) c.3565A>C (p.Met1189Leu) c.*3395A>C (n.*3395A>C) c.3145A>C (p.Met1049Leu) c.319A>C (p.Met107Leu) c.1358A>C (n.1358A>C) c.153A>C c.1167+54A>C c.2353A>C (p.Met785Leu) c.3481A>C (p.Met1161Leu) c.396A>C c.3661A>C (p.Met1221Leu) c.3328A>C (p.Met1110Leu) | gnomAD v4 |
7 | g.117627624A>G | CA368996446 | CFTR | c.3517+54A>G (n.3517+54A>G) c.*3285A>G (n.*3285A>G) c.3388A>G (p.Met1130Val) c.3571A>G (p.Met1191Val) c.*224A>G (n.*224A>G) c.*232A>G (n.*232A>G) c.*1946A>G (n.*1946A>G) c.3565A>G (p.Met1189Val) c.*3395A>G (n.*3395A>G) c.3145A>G (p.Met1049Val) c.319A>G (p.Met107Val) c.1358A>G (n.1358A>G) c.153A>G c.1167+54A>G c.2353A>G (p.Met785Val) c.3481A>G (p.Met1161Val) c.396A>G c.3661A>G (p.Met1221Val) c.3328A>G (p.Met1110Val) | dbSNP |
7 | g.117627624A>T | CA368996447 | CFTR | c.3517+54A>T (n.3517+54A>T) c.*3285A>T (n.*3285A>T) c.3388A>T (p.Met1130Leu) c.3571A>T (p.Met1191Leu) c.*224A>T (n.*224A>T) c.*232A>T (n.*232A>T) c.*1946A>T (n.*1946A>T) c.3565A>T (p.Met1189Leu) c.*3395A>T (n.*3395A>T) c.3145A>T (p.Met1049Leu) c.319A>T (p.Met107Leu) c.1358A>T (n.1358A>T) c.153A>T c.1167+54A>T c.2353A>T (p.Met785Leu) c.3481A>T (p.Met1161Leu) c.396A>T c.3661A>T (p.Met1221Leu) c.3328A>T (p.Met1110Leu) | |
7 | g.117627624dup | CA2580076340 | CFTR | c.3517+54dup (n.3517+54dup) c.*3285dup (n.*3285dup) c.3388dup (p.Met1130AsnfsTer4) c.3571dup (p.Met1191AsnfsTer4) c.*224dup (n.*224dup) c.*232dup (n.*232dup) c.*1946dup (n.*1946dup) c.3565dup (p.Met1189AsnfsTer4) c.*3395dup (n.*3395dup) c.3145dup (p.Met1049AsnfsTer4) c.319dup (p.Met107AsnfsTer4) c.1358dup (n.1358dup) c.153dup c.1167+54dup c.2353dup (p.Met785AsnfsTer4) c.3481dup (p.Met1161AsnfsTer4) c.396dup c.3661dup (p.Met1221AsnfsTer4) c.3328dup (p.Met1110AsnfsTer4) | ClinVar |
7 | g.117627625T>A | CA368996451 | CFTR | c.3517+55T>A (n.3517+55T>A) c.*3286T>A (n.*3286T>A) c.3389T>A (p.Met1130Lys) c.3572T>A (p.Met1191Lys) c.*225T>A (n.*225T>A) c.*233T>A (n.*233T>A) c.*1947T>A (n.*1947T>A) c.3566T>A (p.Met1189Lys) c.*3396T>A (n.*3396T>A) c.3146T>A (p.Met1049Lys) c.320T>A (p.Met107Lys) c.1359T>A (n.1359T>A) c.154T>A c.1167+55T>A c.2354T>A (p.Met785Lys) c.3482T>A (p.Met1161Lys) c.397T>A c.3662T>A (p.Met1221Lys) c.3329T>A (p.Met1110Lys) | |
7 | g.117627625T>C | CA4451500 | CFTR | c.3517+55T>C (n.3517+55T>C) c.*3286T>C (n.*3286T>C) c.3389T>C (p.Met1130Thr) c.3572T>C (p.Met1191Thr) c.*225T>C (n.*225T>C) c.*233T>C (n.*233T>C) c.*1947T>C (n.*1947T>C) c.3566T>C (p.Met1189Thr) c.*3396T>C (n.*3396T>C) c.3146T>C (p.Met1049Thr) c.320T>C (p.Met107Thr) c.1359T>C (n.1359T>C) c.154T>C c.1167+55T>C c.2354T>C (p.Met785Thr) c.3482T>C (p.Met1161Thr) c.397T>C c.3662T>C (p.Met1221Thr) c.3329T>C (p.Met1110Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627625T>G | CA368996449 | CFTR | c.3517+55T>G (n.3517+55T>G) c.*3286T>G (n.*3286T>G) c.3389T>G (p.Met1130Arg) c.3572T>G (p.Met1191Arg) c.*225T>G (n.*225T>G) c.*233T>G (n.*233T>G) c.*1947T>G (n.*1947T>G) c.3566T>G (p.Met1189Arg) c.*3396T>G (n.*3396T>G) c.3146T>G (p.Met1049Arg) c.320T>G (p.Met107Arg) c.1359T>G (n.1359T>G) c.154T>G c.1167+55T>G c.2354T>G (p.Met785Arg) c.3482T>G (p.Met1161Arg) c.397T>G c.3662T>G (p.Met1221Arg) c.3329T>G (p.Met1110Arg) | gnomAD v4 |
7 | g.117627625T= | CA1737398656 | CFTR | c.3517+55T= (n.3517+55T=) c.*3286T= (n.*3286T=) c.3389T= (p.Met1130=) c.3572T= (p.Met1191=) c.*225T= (n.*225T=) c.*233T= (n.*233T=) c.*1947T= (n.*1947T=) c.3566T= (p.Met1189=) c.*3396T= (n.*3396T=) c.3146T= (p.Met1049=) c.320T= (p.Met107=) c.1359T= (n.1359T=) c.154T= c.1167+55T= c.2354T= (p.Met785=) c.3482T= (p.Met1161=) c.397T= c.3662T= (p.Met1221=) c.3329T= (p.Met1110=) | |
7 | g.117627626G>A | CA368996452 | CFTR | c.3517+56G>A (n.3517+56G>A) c.*3287G>A (n.*3287G>A) c.3390G>A (p.Met1130Ile) c.3573G>A (p.Met1191Ile) c.*226G>A (n.*226G>A) c.*234G>A (n.*234G>A) c.*1948G>A (n.*1948G>A) c.3567G>A (p.Met1189Ile) c.*3397G>A (n.*3397G>A) c.3147G>A (p.Met1049Ile) c.321G>A (p.Met107Ile) c.1360G>A (n.1360G>A) c.155G>A c.1167+56G>A c.2355G>A (p.Met785Ile) c.3483G>A (p.Met1161Ile) c.398G>A c.3663G>A (p.Met1221Ile) c.3330G>A (p.Met1110Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.117627626G>C | CA368996454 | CFTR | c.3517+56G>C (n.3517+56G>C) c.*3287G>C (n.*3287G>C) c.3390G>C (p.Met1130Ile) c.3573G>C (p.Met1191Ile) c.*226G>C (n.*226G>C) c.*234G>C (n.*234G>C) c.*1948G>C (n.*1948G>C) c.3567G>C (p.Met1189Ile) c.*3397G>C (n.*3397G>C) c.3147G>C (p.Met1049Ile) c.321G>C (p.Met107Ile) c.1360G>C (n.1360G>C) c.155G>C c.1167+56G>C c.2355G>C (p.Met785Ile) c.3483G>C (p.Met1161Ile) c.398G>C c.3663G>C (p.Met1221Ile) c.3330G>C (p.Met1110Ile) | gnomAD v4 |
7 | g.117627626G= | CA1737398657 | CFTR | c.3517+56G= (n.3517+56G=) c.*3287G= (n.*3287G=) c.3390G= (p.Met1130=) c.3573G= (p.Met1191=) c.*226G= (n.*226G=) c.*234G= (n.*234G=) c.*1948G= (n.*1948G=) c.3567G= (p.Met1189=) c.*3397G= (n.*3397G=) c.3147G= (p.Met1049=) c.321G= (p.Met107=) c.1360G= (n.1360G=) c.155G= c.1167+56G= c.2355G= (p.Met785=) c.3483G= (p.Met1161=) c.398G= c.3663G= (p.Met1221=) c.3330G= (p.Met1110=) | |
7 | g.117627626G>T | CA368996456 | CFTR | c.3517+56G>T (n.3517+56G>T) c.*3287G>T (n.*3287G>T) c.3390G>T (p.Met1130Ile) c.3573G>T (p.Met1191Ile) c.*226G>T (n.*226G>T) c.*234G>T (n.*234G>T) c.*1948G>T (n.*1948G>T) c.3567G>T (p.Met1189Ile) c.*3397G>T (n.*3397G>T) c.3147G>T (p.Met1049Ile) c.321G>T (p.Met107Ile) c.1360G>T (n.1360G>T) c.155G>T c.1167+56G>T c.2355G>T (p.Met785Ile) c.3483G>T (p.Met1161Ile) c.398G>T c.3663G>T (p.Met1221Ile) c.3330G>T (p.Met1110Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627627A= | CA1737398658 | CFTR | c.3517+57A= (n.3517+57A=) c.*3288A= (n.*3288A=) c.3391A= (p.Ile1131=) c.3574A= (p.Ile1192=) c.*227A= (n.*227A=) c.*235A= (n.*235A=) c.*1949A= (n.*1949A=) c.3568A= (p.Ile1190=) c.*3398A= (n.*3398A=) c.3148A= (p.Ile1050=) c.322A= (p.Ile108=) c.1361A= (n.1361A=) c.156A= c.1167+57A= c.2356A= (p.Ile786=) c.3484A= (p.Ile1162=) c.399A= c.3664A= (p.Ile1222=) c.3331A= (p.Ile1111=) | |
7 | g.117627627A>C | CA368996458 | CFTR | c.3517+57A>C (n.3517+57A>C) c.*3288A>C (n.*3288A>C) c.3391A>C (p.Ile1131Leu) c.3574A>C (p.Ile1192Leu) c.*227A>C (n.*227A>C) c.*235A>C (n.*235A>C) c.*1949A>C (n.*1949A>C) c.3568A>C (p.Ile1190Leu) c.*3398A>C (n.*3398A>C) c.3148A>C (p.Ile1050Leu) c.322A>C (p.Ile108Leu) c.1361A>C (n.1361A>C) c.156A>C c.1167+57A>C c.2356A>C (p.Ile786Leu) c.3484A>C (p.Ile1162Leu) c.399A>C c.3664A>C (p.Ile1222Leu) c.3331A>C (p.Ile1111Leu) | |
7 | g.117627627A>G | CA368996460 | CFTR | c.3517+57A>G (n.3517+57A>G) c.*3288A>G (n.*3288A>G) c.3391A>G (p.Ile1131Val) c.3574A>G (p.Ile1192Val) c.*227A>G (n.*227A>G) c.*235A>G (n.*235A>G) c.*1949A>G (n.*1949A>G) c.3568A>G (p.Ile1190Val) c.*3398A>G (n.*3398A>G) c.3148A>G (p.Ile1050Val) c.322A>G (p.Ile108Val) c.1361A>G (n.1361A>G) c.156A>G c.1167+57A>G c.2356A>G (p.Ile786Val) c.3484A>G (p.Ile1162Val) c.399A>G c.3664A>G (p.Ile1222Val) c.3331A>G (p.Ile1111Val) | |
7 | g.117627627A>T | CA368996462 | CFTR | c.3517+57A>T (n.3517+57A>T) c.*3288A>T (n.*3288A>T) c.3391A>T (p.Ile1131Phe) c.3574A>T (p.Ile1192Phe) c.*227A>T (n.*227A>T) c.*235A>T (n.*235A>T) c.*1949A>T (n.*1949A>T) c.3568A>T (p.Ile1190Phe) c.*3398A>T (n.*3398A>T) c.3148A>T (p.Ile1050Phe) c.322A>T (p.Ile108Phe) c.1361A>T (n.1361A>T) c.156A>T c.1167+57A>T c.2356A>T (p.Ile786Phe) c.3484A>T (p.Ile1162Phe) c.399A>T c.3664A>T (p.Ile1222Phe) c.3331A>T (p.Ile1111Phe) | ClinVar dbSNP gnomAD v4 |
7 | g.117627628T>A | CA368996464 | CFTR | c.3517+58T>A (n.3517+58T>A) c.*3289T>A (n.*3289T>A) c.3392T>A (p.Ile1131Asn) c.3575T>A (p.Ile1192Asn) c.*228T>A (n.*228T>A) c.*236T>A (n.*236T>A) c.*1950T>A (n.*1950T>A) c.3569T>A (p.Ile1190Asn) c.*3399T>A (n.*3399T>A) c.3149T>A (p.Ile1050Asn) c.323T>A (p.Ile108Asn) c.1362T>A (n.1362T>A) c.157T>A c.1167+58T>A c.2357T>A (p.Ile786Asn) c.3485T>A (p.Ile1162Asn) c.400T>A c.3665T>A (p.Ile1222Asn) c.3332T>A (p.Ile1111Asn) | |
7 | g.117627628T>C | CA368996468 | CFTR | c.3517+58T>C (n.3517+58T>C) c.*3289T>C (n.*3289T>C) c.3392T>C (p.Ile1131Thr) c.3575T>C (p.Ile1192Thr) c.*228T>C (n.*228T>C) c.*236T>C (n.*236T>C) c.*1950T>C (n.*1950T>C) c.3569T>C (p.Ile1190Thr) c.*3399T>C (n.*3399T>C) c.3149T>C (p.Ile1050Thr) c.323T>C (p.Ile108Thr) c.1362T>C (n.1362T>C) c.157T>C c.1167+58T>C c.2357T>C (p.Ile786Thr) c.3485T>C (p.Ile1162Thr) c.400T>C c.3665T>C (p.Ile1222Thr) c.3332T>C (p.Ile1111Thr) | gnomAD v4 |
7 | g.117627628T>G | CA368996466 | CFTR | c.3517+58T>G (n.3517+58T>G) c.*3289T>G (n.*3289T>G) c.3392T>G (p.Ile1131Ser) c.3575T>G (p.Ile1192Ser) c.*228T>G (n.*228T>G) c.*236T>G (n.*236T>G) c.*1950T>G (n.*1950T>G) c.3569T>G (p.Ile1190Ser) c.*3399T>G (n.*3399T>G) c.3149T>G (p.Ile1050Ser) c.323T>G (p.Ile108Ser) c.1362T>G (n.1362T>G) c.157T>G c.1167+58T>G c.2357T>G (p.Ile786Ser) c.3485T>G (p.Ile1162Ser) c.400T>G c.3665T>G (p.Ile1222Ser) c.3332T>G (p.Ile1111Ser) | gnomAD v4 |
7 | g.117627629T>A | CA457231242 | CFTR | c.3517+59T>A (n.3517+59T>A) c.*3290T>A (n.*3290T>A) c.3393T>A (p.Ile1131=) c.3576T>A (p.Ile1192=) c.*229T>A (n.*229T>A) c.*237T>A (n.*237T>A) c.*1951T>A (n.*1951T>A) c.3570T>A (p.Ile1190=) c.*3400T>A (n.*3400T>A) c.3150T>A (p.Ile1050=) c.324T>A (p.Ile108=) c.1363T>A (n.1363T>A) c.158T>A c.1167+59T>A c.2358T>A (p.Ile786=) c.3486T>A (p.Ile1162=) c.401T>A c.3666T>A (p.Ile1222=) c.3333T>A (p.Ile1111=) | |
7 | g.117627629T>C | CA457231240 | CFTR | c.3517+59T>C (n.3517+59T>C) c.*3290T>C (n.*3290T>C) c.3393T>C (p.Ile1131=) c.3576T>C (p.Ile1192=) c.*229T>C (n.*229T>C) c.*237T>C (n.*237T>C) c.*1951T>C (n.*1951T>C) c.3570T>C (p.Ile1190=) c.*3400T>C (n.*3400T>C) c.3150T>C (p.Ile1050=) c.324T>C (p.Ile108=) c.1363T>C (n.1363T>C) c.158T>C c.1167+59T>C c.2358T>C (p.Ile786=) c.3486T>C (p.Ile1162=) c.401T>C c.3666T>C (p.Ile1222=) c.3333T>C (p.Ile1111=) | |
7 | g.117627629T>G | CA368996470 | CFTR | c.3517+59T>G (n.3517+59T>G) c.*3290T>G (n.*3290T>G) c.3393T>G (p.Ile1131Met) c.3576T>G (p.Ile1192Met) c.*229T>G (n.*229T>G) c.*237T>G (n.*237T>G) c.*1951T>G (n.*1951T>G) c.3570T>G (p.Ile1190Met) c.*3400T>G (n.*3400T>G) c.3150T>G (p.Ile1050Met) c.324T>G (p.Ile108Met) c.1363T>G (n.1363T>G) c.158T>G c.1167+59T>G c.2358T>G (p.Ile786Met) c.3486T>G (p.Ile1162Met) c.401T>G c.3666T>G (p.Ile1222Met) c.3333T>G (p.Ile1111Met) | |
7 | g.117627630A= | CA1737398659 | CFTR | c.3517+60A= (n.3517+60A=) c.*3291A= (n.*3291A=) c.3394A= (p.Ile1132=) c.3577A= (p.Ile1193=) c.*230A= (n.*230A=) c.*238A= (n.*238A=) c.*1952A= (n.*1952A=) c.3571A= (p.Ile1191=) c.*3401A= (n.*3401A=) c.3151A= (p.Ile1051=) c.325A= (p.Ile109=) c.1364A= (n.1364A=) c.159A= c.1167+60A= c.2359A= (p.Ile787=) c.3487A= (p.Ile1163=) c.402A= c.3667A= (p.Ile1223=) c.3334A= (p.Ile1112=) | |
7 | g.117627630A>C | CA368996471 | CFTR | c.3517+60A>C (n.3517+60A>C) c.*3291A>C (n.*3291A>C) c.3394A>C (p.Ile1132Leu) c.3577A>C (p.Ile1193Leu) c.*230A>C (n.*230A>C) c.*238A>C (n.*238A>C) c.*1952A>C (n.*1952A>C) c.3571A>C (p.Ile1191Leu) c.*3401A>C (n.*3401A>C) c.3151A>C (p.Ile1051Leu) c.325A>C (p.Ile109Leu) c.1364A>C (n.1364A>C) c.159A>C c.1167+60A>C c.2359A>C (p.Ile787Leu) c.3487A>C (p.Ile1163Leu) c.402A>C c.3667A>C (p.Ile1223Leu) c.3334A>C (p.Ile1112Leu) | |
7 | g.117627630A>G | CA368996473 | CFTR | c.3517+60A>G (n.3517+60A>G) c.*3291A>G (n.*3291A>G) c.3394A>G (p.Ile1132Val) c.3577A>G (p.Ile1193Val) c.*230A>G (n.*230A>G) c.*238A>G (n.*238A>G) c.*1952A>G (n.*1952A>G) c.3571A>G (p.Ile1191Val) c.*3401A>G (n.*3401A>G) c.3151A>G (p.Ile1051Val) c.325A>G (p.Ile109Val) c.1364A>G (n.1364A>G) c.159A>G c.1167+60A>G c.2359A>G (p.Ile787Val) c.3487A>G (p.Ile1163Val) c.402A>G c.3667A>G (p.Ile1223Val) c.3334A>G (p.Ile1112Val) | ClinVar dbSNP |
7 | g.117627630A>T | CA368996475 | CFTR | c.3517+60A>T (n.3517+60A>T) c.*3291A>T (n.*3291A>T) c.3394A>T (p.Ile1132Phe) c.3577A>T (p.Ile1193Phe) c.*230A>T (n.*230A>T) c.*238A>T (n.*238A>T) c.*1952A>T (n.*1952A>T) c.3571A>T (p.Ile1191Phe) c.*3401A>T (n.*3401A>T) c.3151A>T (p.Ile1051Phe) c.325A>T (p.Ile109Phe) c.1364A>T (n.1364A>T) c.159A>T c.1167+60A>T c.2359A>T (p.Ile787Phe) c.3487A>T (p.Ile1163Phe) c.402A>T c.3667A>T (p.Ile1223Phe) c.3334A>T (p.Ile1112Phe) | |
7 | g.117627631T>A | CA368996477 | CFTR | c.3517+61T>A (n.3517+61T>A) c.*3292T>A (n.*3292T>A) c.3395T>A (p.Ile1132Asn) c.3578T>A (p.Ile1193Asn) c.*231T>A (n.*231T>A) c.*239T>A (n.*239T>A) c.*1953T>A (n.*1953T>A) c.3572T>A (p.Ile1191Asn) c.*3402T>A (n.*3402T>A) c.3152T>A (p.Ile1051Asn) c.326T>A (p.Ile109Asn) c.1365T>A (n.1365T>A) c.160T>A c.1167+61T>A c.2360T>A (p.Ile787Asn) c.3488T>A (p.Ile1163Asn) c.403T>A c.3668T>A (p.Ile1223Asn) c.3335T>A (p.Ile1112Asn) | |
7 | g.117627631T>C | CA368996479 | CFTR | c.3517+61T>C (n.3517+61T>C) c.*3292T>C (n.*3292T>C) c.3395T>C (p.Ile1132Thr) c.3578T>C (p.Ile1193Thr) c.*231T>C (n.*231T>C) c.*239T>C (n.*239T>C) c.*1953T>C (n.*1953T>C) c.3572T>C (p.Ile1191Thr) c.*3402T>C (n.*3402T>C) c.3152T>C (p.Ile1051Thr) c.326T>C (p.Ile109Thr) c.1365T>C (n.1365T>C) c.160T>C c.1167+61T>C c.2360T>C (p.Ile787Thr) c.3488T>C (p.Ile1163Thr) c.403T>C c.3668T>C (p.Ile1223Thr) c.3335T>C (p.Ile1112Thr) | ClinVar gnomAD v4 |
7 | g.117627631T>G | CA368996481 | CFTR | c.3517+61T>G (n.3517+61T>G) c.*3292T>G (n.*3292T>G) c.3395T>G (p.Ile1132Ser) c.3578T>G (p.Ile1193Ser) c.*231T>G (n.*231T>G) c.*239T>G (n.*239T>G) c.*1953T>G (n.*1953T>G) c.3572T>G (p.Ile1191Ser) c.*3402T>G (n.*3402T>G) c.3152T>G (p.Ile1051Ser) c.326T>G (p.Ile109Ser) c.1365T>G (n.1365T>G) c.160T>G c.1167+61T>G c.2360T>G (p.Ile787Ser) c.3488T>G (p.Ile1163Ser) c.403T>G c.3668T>G (p.Ile1223Ser) c.3335T>G (p.Ile1112Ser) | |
7 | g.117627632T>A | CA457231247 | CFTR | c.3517+62T>A (n.3517+62T>A) c.*3293T>A (n.*3293T>A) c.3396T>A (p.Ile1132=) c.3579T>A (p.Ile1193=) c.*232T>A (n.*232T>A) c.*240T>A (n.*240T>A) c.*1954T>A (n.*1954T>A) c.3573T>A (p.Ile1191=) c.*3403T>A (n.*3403T>A) c.3153T>A (p.Ile1051=) c.327T>A (p.Ile109=) c.1366T>A (n.1366T>A) c.161T>A c.1167+62T>A c.2361T>A (p.Ile787=) c.3489T>A (p.Ile1163=) c.404T>A c.3669T>A (p.Ile1223=) c.3336T>A (p.Ile1112=) | |
7 | g.117627632T>C | CA457231248 | CFTR | c.3517+62T>C (n.3517+62T>C) c.*3293T>C (n.*3293T>C) c.3396T>C (p.Ile1132=) c.3579T>C (p.Ile1193=) c.*232T>C (n.*232T>C) c.*240T>C (n.*240T>C) c.*1954T>C (n.*1954T>C) c.3573T>C (p.Ile1191=) c.*3403T>C (n.*3403T>C) c.3153T>C (p.Ile1051=) c.327T>C (p.Ile109=) c.1366T>C (n.1366T>C) c.161T>C c.1167+62T>C c.2361T>C (p.Ile787=) c.3489T>C (p.Ile1163=) c.404T>C c.3669T>C (p.Ile1223=) c.3336T>C (p.Ile1112=) | |
7 | g.117627632T>G | CA368996483 | CFTR | c.3517+62T>G (n.3517+62T>G) c.*3293T>G (n.*3293T>G) c.3396T>G (p.Ile1132Met) c.3579T>G (p.Ile1193Met) c.*232T>G (n.*232T>G) c.*240T>G (n.*240T>G) c.*1954T>G (n.*1954T>G) c.3573T>G (p.Ile1191Met) c.*3403T>G (n.*3403T>G) c.3153T>G (p.Ile1051Met) c.327T>G (p.Ile109Met) c.1366T>G (n.1366T>G) c.161T>G c.1167+62T>G c.2361T>G (p.Ile787Met) c.3489T>G (p.Ile1163Met) c.404T>G c.3669T>G (p.Ile1223Met) c.3336T>G (p.Ile1112Met) |