| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117602148_117612002del | CA325806 | |||
| 7 | g.117604867_117612068del | CA913190213 | ClinVar | ||
| 7 | g.117606672_117611806del | CA913190200 | ClinVar | ||
| 7 | g.117607922_117616820del | CA1139532136 | |||
| 7 | g.117609540_117612054del | CA325807 | ClinVar | ||
| 7 | g.117609611_117610615delinsGACAG | CA915945433 | ClinVar | ||
| 7 | g.117610515_117611804del | CA913189830 | ClinVar | ||
| 7 | g.117610517_117610667del | CA326999 | ClinVar dbSNP | ||
| 7 | g.117610518_117614712del | CA913189831 | ClinVar | ||
| 7 | g.117610567C>A | CA368990544 | CFTR | c.3037C>A (p.Pro1013Thr) n.2947C>A (p.Pro983Thr) c.3127C>A (p.Pro1043Thr) c.2794C>A (p.Pro932Thr) | |
| 7 | g.117610567C>G | CA368990547 | CFTR | c.3037C>G (p.Pro1013Ala) n.2947C>G (p.Pro983Ala) c.3127C>G (p.Pro1043Ala) c.2794C>G (p.Pro932Ala) | |
| 7 | g.117610567C>T | CA164965144 | CFTR | c.3037C>T (p.Pro1013Ser) n.2947C>T (p.Pro983Ser) c.3127C>T (p.Pro1043Ser) c.2794C>T (p.Pro932Ser) | ClinVar dbSNP |
| 7 | g.117610569dup | CA327023 | CFTR | c.3039dup (p.Tyr1014LeufsTer?) n.2949dup (p.Tyr984LeufsTer?) c.3129dup (p.Tyr1044LeufsTer?) c.2796dup (p.Tyr933LeufsTer?) | ClinVar dbSNP dbSNP |
| 7 | g.117610567del | CA327024 | CFTR | c.3037del (p.Tyr1014ThrfsTer9) n.2947del (p.Tyr984ThrfsTer9) c.3127del (p.Tyr1044ThrfsTer9) c.2794del (p.Tyr933ThrfsTer9) | ClinVar dbSNP |
| 7 | g.117610568C>A | CA260231 | CFTR | c.3038C>A (p.Pro1013His) n.2948C>A (p.Pro983His) c.3128C>A (p.Pro1043His) c.2795C>A (p.Pro932His) | ClinVar dbSNP ExAC gnomAD |
| 7 | g.117610568C>G | CA4451368 | CFTR | c.3038C>G (p.Pro1013Arg) n.2948C>G (p.Pro983Arg) c.3128C>G (p.Pro1043Arg) c.2795C>G (p.Pro932Arg) | dbSNP ExAC gnomAD |
| 7 | g.117610568C>T | CA327022 | CFTR | c.3038C>T (p.Pro1013Leu) n.2948C>T (p.Pro983Leu) c.3128C>T (p.Pro1043Leu) c.2795C>T (p.Pro932Leu) | ClinVar dbSNP ExAC gnomAD |
| 7 | g.117610569C>A | CA457229384 | CFTR | c.3039C>A (p.Pro1013=) n.2949C>A (p.Pro983=) c.3129C>A (p.Pro1043=) c.2796C>A (p.Pro932=) | |
| 7 | g.117610569C>G | CA457229385 | CFTR | c.3039C>G (p.Pro1013=) n.2949C>G (p.Pro983=) c.3129C>G (p.Pro1043=) c.2796C>G (p.Pro932=) | ClinVar |
| 7 | g.117610569C>T | CA457229386 | CFTR | c.3039C>T (p.Pro1013=) n.2949C>T (p.Pro983=) c.3129C>T (p.Pro1043=) c.2796C>T (p.Pro932=) | |
| 7 | g.117610569_117610571del | CA915945435 | CFTR | c.3039_3041del (p.Tyr1014del) n.2949_2951del (p.Tyr984del) c.3129_3131del (p.Tyr1044del) c.2796_2798del (p.Tyr933del) | ClinVar dbSNP |
| 7 | g.117610570T>A | CA368990558 | CFTR | c.3040T>A (p.Tyr1014Asn) n.2950T>A (p.Tyr984Asn) c.3130T>A (p.Tyr1044Asn) c.2797T>A (p.Tyr933Asn) | |
| 7 | g.117610570T>C | CA164965162 | CFTR | c.3040T>C (p.Tyr1014His) n.2950T>C (p.Tyr984His) c.3130T>C (p.Tyr1044His) c.2797T>C (p.Tyr933His) | dbSNP |
| 7 | g.117610570T>G | CA368990561 | CFTR | c.3040T>G (p.Tyr1014Asp) n.2950T>G (p.Tyr984Asp) c.3130T>G (p.Tyr1044Asp) c.2797T>G (p.Tyr933Asp) | |
| 7 | g.117610571A>C | CA368990568 | CFTR | c.3041A>C (p.Tyr1014Ser) n.2951A>C (p.Tyr984Ser) c.3131A>C (p.Tyr1044Ser) c.2798A>C (p.Tyr933Ser) | |
| 7 | g.117610571A>G | CA233700 | CFTR | c.3041A>G (p.Tyr1014Cys) n.2951A>G (p.Tyr984Cys) c.3131A>G (p.Tyr1044Cys) c.2798A>G (p.Tyr933Cys) | ClinVar dbSNP ExAC gnomAD |
| 7 | g.117610571A>T | CA368990566 | CFTR | c.3041A>T (p.Tyr1014Phe) n.2951A>T (p.Tyr984Phe) c.3131A>T (p.Tyr1044Phe) c.2798A>T (p.Tyr933Phe) | |
| 7 | g.117610571_117610572del | CA327026 | CFTR | c.3041_3042del (p.Ile1015LeufsTer?) n.2951_2952del (p.Ile985LeufsTer?) c.3131_3132del (p.Ile1045LeufsTer?) c.2798_2799del (p.Ile934LeufsTer?) | dbSNP |
| 7 | g.117610572C>A | CA368990573 | CFTR | c.3042C>A (p.Tyr1014Ter) n.2952C>A (p.Tyr984Ter) c.3132C>A (p.Tyr1044Ter) c.2799C>A (p.Tyr933Ter) | |
| 7 | g.117610572C>G | CA368990574 | CFTR | c.3042C>G (p.Tyr1014Ter) n.2952C>G (p.Tyr984Ter) c.3132C>G (p.Tyr1044Ter) c.2799C>G (p.Tyr933Ter) | |
| 7 | g.117610572C>T | CA457229387 | CFTR | c.3042C>T (p.Tyr1014=) n.2952C>T (p.Tyr984=) c.3132C>T (p.Tyr1044=) c.2799C>T (p.Tyr933=) | |
| 7 | g.117610573A>C | CA368990578 | CFTR | c.3043A>C (p.Ile1015Leu) n.2953A>C (p.Ile985Leu) c.3133A>C (p.Ile1045Leu) c.2800A>C (p.Ile934Leu) | |
| 7 | g.117610573A>G | CA368990579 | CFTR | c.3043A>G (p.Ile1015Val) n.2953A>G (p.Ile985Val) c.3133A>G (p.Ile1045Val) c.2800A>G (p.Ile934Val) | |
| 7 | g.117610573A>T | CA368990581 | CFTR | c.3043A>T (p.Ile1015Phe) n.2953A>T (p.Ile985Phe) c.3133A>T (p.Ile1045Phe) c.2800A>T (p.Ile934Phe) | |
| 7 | g.117610574T>A | CA368990584 | CFTR | c.3044T>A (p.Ile1015Asn) n.2954T>A (p.Ile985Asn) c.3134T>A (p.Ile1045Asn) c.2801T>A (p.Ile934Asn) | |
| 7 | g.117610574T>C | CA368990586 | CFTR | c.3044T>C (p.Ile1015Thr) n.2954T>C (p.Ile985Thr) c.3134T>C (p.Ile1045Thr) c.2801T>C (p.Ile934Thr) | |
| 7 | g.117610574T>G | CA368990588 | CFTR | c.3044T>G (p.Ile1015Ser) n.2954T>G (p.Ile985Ser) c.3134T>G (p.Ile1045Ser) c.2801T>G (p.Ile934Ser) | |
| 7 | g.117610575C>A | CA457229389 | CFTR | c.3045C>A (p.Ile1015=) n.2955C>A (p.Ile985=) c.3135C>A (p.Ile1045=) c.2802C>A (p.Ile934=) | |
| 7 | g.117610575C>G | CA368990591 | CFTR | c.3045C>G (p.Ile1015Met) n.2955C>G (p.Ile985Met) c.3135C>G (p.Ile1045Met) c.2802C>G (p.Ile934Met) | |
| 7 | g.117610575C>T | CA457229388 | CFTR | c.3045C>T (p.Ile1015=) n.2955C>T (p.Ile985=) c.3135C>T (p.Ile1045=) c.2802C>T (p.Ile934=) | COSMIC |
| 7 | g.117610576T>A | CA368990594 | CFTR | c.3046T>A (p.Phe1016Ile) n.2956T>A (p.Phe986Ile) c.3136T>A (p.Phe1046Ile) c.2803T>A (p.Phe935Ile) | |
| 7 | g.117610576T>C | CA368990596 | CFTR | c.3046T>C (p.Phe1016Leu) n.2956T>C (p.Phe986Leu) c.3136T>C (p.Phe1046Leu) c.2803T>C (p.Phe935Leu) | |
| 7 | g.117610576T>G | CA368990598 | CFTR | c.3046T>G (p.Phe1016Val) n.2956T>G (p.Phe986Val) c.3136T>G (p.Phe1046Val) c.2803T>G (p.Phe935Val) | |
| 7 | g.117610577T>A | CA368990606 | CFTR | c.3047T>A (p.Phe1016Tyr) n.2957T>A (p.Phe986Tyr) c.3137T>A (p.Phe1046Tyr) c.2804T>A (p.Phe935Tyr) | |
| 7 | g.117610577T>C | CA327027 | CFTR | c.3047T>C (p.Phe1016Ser) n.2957T>C (p.Phe986Ser) c.3137T>C (p.Phe1046Ser) c.2804T>C (p.Phe935Ser) | ClinVar dbSNP ExAC gnomAD |
| 7 | g.117610577T>G | CA368990602 | CFTR | c.3047T>G (p.Phe1016Cys) n.2957T>G (p.Phe986Cys) c.3137T>G (p.Phe1046Cys) c.2804T>G (p.Phe935Cys) | |
| 7 | g.117610578T>A | CA368990608 | CFTR | c.3048T>A (p.Phe1016Leu) n.2958T>A (p.Phe986Leu) c.3138T>A (p.Phe1046Leu) c.2805T>A (p.Phe935Leu) | |
| 7 | g.117610578T>C | CA457229390 | CFTR | c.3048T>C (p.Phe1016=) n.2958T>C (p.Phe986=) c.3138T>C (p.Phe1046=) c.2805T>C (p.Phe935=) | |
| 7 | g.117610578T>G | CA368990611 | CFTR | c.3048T>G (p.Phe1016Leu) n.2958T>G (p.Phe986Leu) c.3138T>G (p.Phe1046Leu) c.2805T>G (p.Phe935Leu) | |
| 7 | g.117610579G>A | CA368990613 | CFTR | c.3049G>A (p.Val1017Ile) n.2959G>A (p.Val987Ile) c.3139G>A (p.Val1047Ile) c.2806G>A (p.Val936Ile) |