OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535281_117538553del | CA2580076362 | CFTR | c.613_870-1547del c.*510_*767-1547del c.*437_*694-1547del c.370_627-1547del c.523_780-1547del c.703_960-1547del | ClinVar |
| 7 | g.117535431A>G | CA2715545190 | CFTR | c.743+20A>G (n.743+20A>G) c.*640+20A>G (n.*640+20A>G) c.*567+20A>G (n.*567+20A>G) c.500+20A>G (n.500+20A>G) c.653+20A>G (n.653+20A>G) c.833+20A>G (n.833+20A>G) | dbSNP |
| 7 | g.117535432C= | CA1737362221 | CFTR | c.743+21C= (n.743+21C=) c.*640+21C= (n.*640+21C=) c.*567+21C= (n.*567+21C=) c.500+21C= (n.500+21C=) c.653+21C= (n.653+21C=) c.833+21C= (n.833+21C=) | |
| 7 | g.117535432C>T | CA1737362222 | CFTR | c.743+21C>T (n.743+21C>T) c.*640+21C>T (n.*640+21C>T) c.*567+21C>T (n.*567+21C>T) c.500+21C>T (n.500+21C>T) c.653+21C>T (n.653+21C>T) c.833+21C>T (n.833+21C>T) | dbSNP gnomAD v4 |
| 7 | g.117535433T>A | CA2684617662 | CFTR | c.743+22T>A (n.743+22T>A) c.*640+22T>A (n.*640+22T>A) c.*567+22T>A (n.*567+22T>A) c.500+22T>A (n.500+22T>A) c.653+22T>A (n.653+22T>A) c.833+22T>A (n.833+22T>A) | gnomAD v4 |
| 7 | g.117535434T>C | CA651895354 | CFTR | c.743+23T>C (n.743+23T>C) c.*640+23T>C (n.*640+23T>C) c.*567+23T>C (n.*567+23T>C) c.500+23T>C (n.500+23T>C) c.653+23T>C (n.653+23T>C) c.833+23T>C (n.833+23T>C) | gnomAD v4 COSMIC |
| 7 | g.117535435G>A | CA577680181 | CFTR | c.743+24G>A (n.743+24G>A) c.*640+24G>A (n.*640+24G>A) c.*567+24G>A (n.*567+24G>A) c.500+24G>A (n.500+24G>A) c.653+24G>A (n.653+24G>A) c.833+24G>A (n.833+24G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535435G= | CA1737362223 | CFTR | c.743+24G= (n.743+24G=) c.*640+24G= (n.*640+24G=) c.*567+24G= (n.*567+24G=) c.500+24G= (n.500+24G=) c.653+24G= (n.653+24G=) c.833+24G= (n.833+24G=) | |
| 7 | g.117535436A= | CA1737362224 | CFTR | c.743+25A= (n.743+25A=) c.*640+25A= (n.*640+25A=) c.*567+25A= (n.*567+25A=) c.500+25A= (n.500+25A=) c.653+25A= (n.653+25A=) c.833+25A= (n.833+25A=) | |
| 7 | g.117535436A>G | CA2684617663 | CFTR | c.743+25A>G (n.743+25A>G) c.*640+25A>G (n.*640+25A>G) c.*567+25A>G (n.*567+25A>G) c.500+25A>G (n.500+25A>G) c.653+25A>G (n.653+25A>G) c.833+25A>G (n.833+25A>G) | gnomAD v4 |
| 7 | g.117535436A>T | CA164945778 | CFTR | c.743+25A>T (n.743+25A>T) c.*640+25A>T (n.*640+25A>T) c.*567+25A>T (n.*567+25A>T) c.500+25A>T (n.500+25A>T) c.653+25A>T (n.653+25A>T) c.833+25A>T (n.833+25A>T) | dbSNP |
| 7 | g.117535438A>G | CA2684617664 | CFTR | c.743+27A>G (n.743+27A>G) c.*640+27A>G (n.*640+27A>G) c.*567+27A>G (n.*567+27A>G) c.500+27A>G (n.500+27A>G) c.653+27A>G (n.653+27A>G) c.833+27A>G (n.833+27A>G) | gnomAD v4 |
| 7 | g.117535439G>T | CA2684617665 | CFTR | c.743+28G>T (n.743+28G>T) c.*640+28G>T (n.*640+28G>T) c.*567+28G>T (n.*567+28G>T) c.500+28G>T (n.500+28G>T) c.653+28G>T (n.653+28G>T) c.833+28G>T (n.833+28G>T) | gnomAD v4 |
| 7 | g.117535442T>G | CA577680182 | CFTR | c.743+31T>G (n.743+31T>G) c.*640+31T>G (n.*640+31T>G) c.*567+31T>G (n.*567+31T>G) c.500+31T>G (n.500+31T>G) c.653+31T>G (n.653+31T>G) c.833+31T>G (n.833+31T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535442T= | CA1737362225 | CFTR | c.743+31T= (n.743+31T=) c.*640+31T= (n.*640+31T=) c.*567+31T= (n.*567+31T=) c.500+31T= (n.500+31T=) c.653+31T= (n.653+31T=) c.833+31T= (n.833+31T=) | |
| 7 | g.117535443T>A | CA2684617666 | CFTR | c.743+32T>A (n.743+32T>A) c.*640+32T>A (n.*640+32T>A) c.*567+32T>A (n.*567+32T>A) c.500+32T>A (n.500+32T>A) c.653+32T>A (n.653+32T>A) c.833+32T>A (n.833+32T>A) | gnomAD v4 |
| 7 | g.117535444A>T | CA2684617667 | CFTR | c.743+33A>T (n.743+33A>T) c.*640+33A>T (n.*640+33A>T) c.*567+33A>T (n.*567+33A>T) c.500+33A>T (n.500+33A>T) c.653+33A>T (n.653+33A>T) c.833+33A>T (n.833+33A>T) | gnomAD v4 |
| 7 | g.117535445A>C | CA2777587592 | CFTR | c.743+34A>C (n.743+34A>C) c.*640+34A>C (n.*640+34A>C) c.*567+34A>C (n.*567+34A>C) c.500+34A>C (n.500+34A>C) c.653+34A>C (n.653+34A>C) c.833+34A>C (n.833+34A>C) | |
| 7 | g.117535448A>G | CA2684617668 | CFTR | c.743+37A>G (n.743+37A>G) c.*640+37A>G (n.*640+37A>G) c.*567+37A>G (n.*567+37A>G) c.500+37A>G (n.500+37A>G) c.653+37A>G (n.653+37A>G) c.833+37A>G (n.833+37A>G) | gnomAD v4 |
| 7 | g.117535449_117535451delinsTTA | CA1737362226 | CFTR | c.743+38_743+40delinsTTA (n.743+38_743+40delinsTTA) c.*640+38_*640+40delinsTTA (n.*640+38_*640+40delinsTTA) c.*567+38_*567+40delinsTTA (n.*567+38_*567+40delinsTTA) c.500+38_500+40delinsTTA (n.500+38_500+40delinsTTA) c.653+38_653+40delinsTTA (n.653+38_653+40delinsTTA) c.833+38_833+40delinsTTA (n.833+38_833+40delinsTTA) | |
| 7 | g.117535451_117535452del | CA4450816 | CFTR | c.743+40_743+41del (n.743+40_743+41del) c.*640+40_*640+41del (n.*640+40_*640+41del) c.*567+40_*567+41del (n.*567+40_*567+41del) c.500+40_500+41del (n.500+40_500+41del) c.653+40_653+41del (n.653+40_653+41del) c.833+40_833+41del (n.833+40_833+41del) | dbSNP ExAC gnomAD v2 |
| 7 | g.117535451A= | CA1737362227 | CFTR | c.743+40A= (n.743+40A=) c.*640+40A= (n.*640+40A=) c.*567+40A= (n.*567+40A=) c.500+40A= (n.500+40A=) c.653+40A= (n.653+40A=) c.833+40A= (n.833+40A=) | |
| 7 | g.117535451A>G | CA4450817 | CFTR | c.743+40A>G (n.743+40A>G) c.*640+40A>G (n.*640+40A>G) c.*567+40A>G (n.*567+40A>G) c.500+40A>G (n.500+40A>G) c.653+40A>G (n.653+40A>G) c.833+40A>G (n.833+40A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535451_117535454delinsATGT | CA1737362228 | CFTR | c.743+40_743+43delinsATGT (n.743+40_743+43delinsATGT) c.*640+40_*640+43delinsATGT (n.*640+40_*640+43delinsATGT) c.*567+40_*567+43delinsATGT (n.*567+40_*567+43delinsATGT) c.500+40_500+43delinsATGT (n.500+40_500+43delinsATGT) c.653+40_653+43delinsATGT (n.653+40_653+43delinsATGT) c.833+40_833+43delinsATGT (n.833+40_833+43delinsATGT) | |
| 7 | g.117535453_117535455del | CA1106309312 | CFTR | c.743+42_743+44del (n.743+42_743+44del) c.*640+42_*640+44del (n.*640+42_*640+44del) c.*567+42_*567+44del (n.*567+42_*567+44del) c.500+42_500+44del (n.500+42_500+44del) c.653+42_653+44del (n.653+42_653+44del) c.833+42_833+44del (n.833+42_833+44del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535453G>A | CA577680183 | CFTR | c.743+42G>A (n.743+42G>A) c.*640+42G>A (n.*640+42G>A) c.*567+42G>A (n.*567+42G>A) c.500+42G>A (n.500+42G>A) c.653+42G>A (n.653+42G>A) c.833+42G>A (n.833+42G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535453G= | CA1737362229 | CFTR | c.743+42G= (n.743+42G=) c.*640+42G= (n.*640+42G=) c.*567+42G= (n.*567+42G=) c.500+42G= (n.500+42G=) c.653+42G= (n.653+42G=) c.833+42G= (n.833+42G=) | |
| 7 | g.117535453G>T | CA2684617669 | CFTR | c.743+42G>T (n.743+42G>T) c.*640+42G>T (n.*640+42G>T) c.*567+42G>T (n.*567+42G>T) c.500+42G>T (n.500+42G>T) c.653+42G>T (n.653+42G>T) c.833+42G>T (n.833+42G>T) | gnomAD v4 |
| 7 | g.117535455T>C | CA2777587600 | CFTR | c.743+44T>C (n.743+44T>C) c.*640+44T>C (n.*640+44T>C) c.*567+44T>C (n.*567+44T>C) c.500+44T>C (n.500+44T>C) c.653+44T>C (n.653+44T>C) c.833+44T>C (n.833+44T>C) | |
| 7 | g.117535457T>C | CA2684617670 | CFTR | c.743+46T>C (n.743+46T>C) c.*640+46T>C (n.*640+46T>C) c.*567+46T>C (n.*567+46T>C) c.500+46T>C (n.500+46T>C) c.653+46T>C (n.653+46T>C) c.833+46T>C (n.833+46T>C) | gnomAD v4 |
| 7 | g.117535458C>A | CA2684617671 | CFTR | c.743+47C>A (n.743+47C>A) c.*640+47C>A (n.*640+47C>A) c.*567+47C>A (n.*567+47C>A) c.500+47C>A (n.500+47C>A) c.653+47C>A (n.653+47C>A) c.833+47C>A (n.833+47C>A) | gnomAD v4 |
| 7 | g.117535458_117535459delinsCA | CA1737362230 | CFTR | c.743+47_743+48delinsCA (n.743+47_743+48delinsCA) c.*640+47_*640+48delinsCA (n.*640+47_*640+48delinsCA) c.*567+47_*567+48delinsCA (n.*567+47_*567+48delinsCA) c.500+47_500+48delinsCA (n.500+47_500+48delinsCA) c.653+47_653+48delinsCA (n.653+47_653+48delinsCA) c.833+47_833+48delinsCA (n.833+47_833+48delinsCA) | |
| 7 | g.117535463dup | CA4450818 | CFTR | c.743+52dup (n.743+52dup) c.*640+52dup (n.*640+52dup) c.*567+52dup (n.*567+52dup) c.500+52dup (n.500+52dup) c.653+52dup (n.653+52dup) c.833+52dup (n.833+52dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535463del | CA577680184 | CFTR | c.743+52del (n.743+52del) c.*640+52del (n.*640+52del) c.*567+52del (n.*567+52del) c.500+52del (n.500+52del) c.653+52del (n.653+52del) c.833+52del (n.833+52del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535460A= | CA1737362231 | CFTR | c.743+49A= (n.743+49A=) c.*640+49A= (n.*640+49A=) c.*567+49A= (n.*567+49A=) c.500+49A= (n.500+49A=) c.653+49A= (n.653+49A=) c.833+49A= (n.833+49A=) | |
| 7 | g.117535460A>G | CA4450819 | CFTR | c.743+49A>G (n.743+49A>G) c.*640+49A>G (n.*640+49A>G) c.*567+49A>G (n.*567+49A>G) c.500+49A>G (n.500+49A>G) c.653+49A>G (n.653+49A>G) c.833+49A>G (n.833+49A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535462A>G | CA2527325059 | CFTR | c.743+51A>G (n.743+51A>G) c.*640+51A>G (n.*640+51A>G) c.*567+51A>G (n.*567+51A>G) c.500+51A>G (n.500+51A>G) c.653+51A>G (n.653+51A>G) c.833+51A>G (n.833+51A>G) | |
| 7 | g.117535464G>A | CA2777587604 | CFTR | c.743+53G>A (n.743+53G>A) c.*640+53G>A (n.*640+53G>A) c.*567+53G>A (n.*567+53G>A) c.500+53G>A (n.500+53G>A) c.653+53G>A (n.653+53G>A) c.833+53G>A (n.833+53G>A) | |
| 7 | g.117535465C= | CA1737362232 | CFTR | c.743+54C= (n.743+54C=) c.*640+54C= (n.*640+54C=) c.*567+54C= (n.*567+54C=) c.500+54C= (n.500+54C=) c.653+54C= (n.653+54C=) c.833+54C= (n.833+54C=) | |
| 7 | g.117535465C>T | CA1106309326 | CFTR | c.743+54C>T (n.743+54C>T) c.*640+54C>T (n.*640+54C>T) c.*567+54C>T (n.*567+54C>T) c.500+54C>T (n.500+54C>T) c.653+54C>T (n.653+54C>T) c.833+54C>T (n.833+54C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535467C>A | CA832112522 | CFTR | c.743+56C>A (n.743+56C>A) c.*640+56C>A (n.*640+56C>A) c.*567+56C>A (n.*567+56C>A) c.500+56C>A (n.500+56C>A) c.653+56C>A (n.653+56C>A) c.833+56C>A (n.833+56C>A) | dbSNP |
| 7 | g.117535467C= | CA1737362233 | CFTR | c.743+56C= (n.743+56C=) c.*640+56C= (n.*640+56C=) c.*567+56C= (n.*567+56C=) c.500+56C= (n.500+56C=) c.653+56C= (n.653+56C=) c.833+56C= (n.833+56C=) | |
| 7 | g.117535467C>G | CA2579000101 | CFTR | c.743+56C>G (n.743+56C>G) c.*640+56C>G (n.*640+56C>G) c.*567+56C>G (n.*567+56C>G) c.500+56C>G (n.500+56C>G) c.653+56C>G (n.653+56C>G) c.833+56C>G (n.833+56C>G) | |
| 7 | g.117535468A>C | CA2684617672 | CFTR | c.743+57A>C (n.743+57A>C) c.*640+57A>C (n.*640+57A>C) c.*567+57A>C (n.*567+57A>C) c.500+57A>C (n.500+57A>C) c.653+57A>C (n.653+57A>C) c.833+57A>C (n.833+57A>C) | gnomAD v4 |
| 7 | g.117535468A>G | CA2684617673 | CFTR | c.743+57A>G (n.743+57A>G) c.*640+57A>G (n.*640+57A>G) c.*567+57A>G (n.*567+57A>G) c.500+57A>G (n.500+57A>G) c.653+57A>G (n.653+57A>G) c.833+57A>G (n.833+57A>G) | gnomAD v4 |
| 7 | g.117535469C>A | CA1106309331 | CFTR | c.743+58C>A (n.743+58C>A) c.*640+58C>A (n.*640+58C>A) c.*567+58C>A (n.*567+58C>A) c.500+58C>A (n.500+58C>A) c.653+58C>A (n.653+58C>A) c.833+58C>A (n.833+58C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535469C= | CA1737362234 | CFTR | c.743+58C= (n.743+58C=) c.*640+58C= (n.*640+58C=) c.*567+58C= (n.*567+58C=) c.500+58C= (n.500+58C=) c.653+58C= (n.653+58C=) c.833+58C= (n.833+58C=) | |
| 7 | g.117535472del | CA2579000102 | CFTR | c.743+61del (n.743+61del) c.*640+61del (n.*640+61del) c.*567+61del (n.*567+61del) c.500+61del (n.500+61del) c.653+61del (n.653+61del) c.833+61del (n.833+61del) | gnomAD v4 |
| 7 | g.117535472T>A | CA2579000103 | CFTR | c.743+61T>A (n.743+61T>A) c.*640+61T>A (n.*640+61T>A) c.*567+61T>A (n.*567+61T>A) c.500+61T>A (n.500+61T>A) c.653+61T>A (n.653+61T>A) c.833+61T>A (n.833+61T>A) | gnomAD v4 |
| 7 | g.117535472T>C | CA2684617674 | CFTR | c.743+61T>C (n.743+61T>C) c.*640+61T>C (n.*640+61T>C) c.*567+61T>C (n.*567+61T>C) c.500+61T>C (n.500+61T>C) c.653+61T>C (n.653+61T>C) c.833+61T>C (n.833+61T>C) | gnomAD v4 |
| 7 | g.117535472T>G | CA2684617675 | CFTR | c.743+61T>G (n.743+61T>G) c.*640+61T>G (n.*640+61T>G) c.*567+61T>G (n.*567+61T>G) c.500+61T>G (n.500+61T>G) c.653+61T>G (n.653+61T>G) c.833+61T>G (n.833+61T>G) | gnomAD v4 |
| 7 | g.117535473A>G | CA2684617676 | CFTR | c.743+62A>G (n.743+62A>G) c.*640+62A>G (n.*640+62A>G) c.*567+62A>G (n.*567+62A>G) c.500+62A>G (n.500+62A>G) c.653+62A>G (n.653+62A>G) c.833+62A>G (n.833+62A>G) | gnomAD v4 |
| 7 | g.117535474G>A | CA2684617677 | CFTR | c.743+63G>A (n.743+63G>A) c.*640+63G>A (n.*640+63G>A) c.*567+63G>A (n.*567+63G>A) c.500+63G>A (n.500+63G>A) c.653+63G>A (n.653+63G>A) c.833+63G>A (n.833+63G>A) | gnomAD v4 |
| 7 | g.117535474G>T | CA2684617678 | CFTR | c.743+63G>T (n.743+63G>T) c.*640+63G>T (n.*640+63G>T) c.*567+63G>T (n.*567+63G>T) c.500+63G>T (n.500+63G>T) c.653+63G>T (n.653+63G>T) c.833+63G>T (n.833+63G>T) | gnomAD v4 |
| 7 | g.117535475T>A | CA2579000104 | CFTR | c.743+64T>A (n.743+64T>A) c.*640+64T>A (n.*640+64T>A) c.*567+64T>A (n.*567+64T>A) c.500+64T>A (n.500+64T>A) c.653+64T>A (n.653+64T>A) c.833+64T>A (n.833+64T>A) | gnomAD v4 |
| 7 | g.117535477A>G | CA2684617679 | CFTR | c.743+66A>G (n.743+66A>G) c.*640+66A>G (n.*640+66A>G) c.*567+66A>G (n.*567+66A>G) c.500+66A>G (n.500+66A>G) c.653+66A>G (n.653+66A>G) c.833+66A>G (n.833+66A>G) | gnomAD v4 |
| 7 | g.117535480C>A | CA2579000105 | CFTR | c.743+69C>A (n.743+69C>A) c.*640+69C>A (n.*640+69C>A) c.*567+69C>A (n.*567+69C>A) c.500+69C>A (n.500+69C>A) c.653+69C>A (n.653+69C>A) c.833+69C>A (n.833+69C>A) | |
| 7 | g.117535480C>G | CA2579000106 | CFTR | c.743+69C>G (n.743+69C>G) c.*640+69C>G (n.*640+69C>G) c.*567+69C>G (n.*567+69C>G) c.500+69C>G (n.500+69C>G) c.653+69C>G (n.653+69C>G) c.833+69C>G (n.833+69C>G) | |
| 7 | g.117535480C>T | CA2684617680 | CFTR | c.743+69C>T (n.743+69C>T) c.*640+69C>T (n.*640+69C>T) c.*567+69C>T (n.*567+69C>T) c.500+69C>T (n.500+69C>T) c.653+69C>T (n.653+69C>T) c.833+69C>T (n.833+69C>T) | gnomAD v4 |
| 7 | g.117535481C>A | CA2579000107 | CFTR | c.743+70C>A (n.743+70C>A) c.*640+70C>A (n.*640+70C>A) c.*567+70C>A (n.*567+70C>A) c.500+70C>A (n.500+70C>A) c.653+70C>A (n.653+70C>A) c.833+70C>A (n.833+70C>A) | gnomAD v4 |
| 7 | g.117535481C= | CA1737362235 | CFTR | c.743+70C= (n.743+70C=) c.*640+70C= (n.*640+70C=) c.*567+70C= (n.*567+70C=) c.500+70C= (n.500+70C=) c.653+70C= (n.653+70C=) c.833+70C= (n.833+70C=) | |
| 7 | g.117535481C>T | CA1737362236 | CFTR | c.743+70C>T (n.743+70C>T) c.*640+70C>T (n.*640+70C>T) c.*567+70C>T (n.*567+70C>T) c.500+70C>T (n.500+70C>T) c.653+70C>T (n.653+70C>T) c.833+70C>T (n.833+70C>T) | dbSNP |
| 7 | g.117535483G>T | CA2684617681 | CFTR | c.743+72G>T (n.743+72G>T) c.*640+72G>T (n.*640+72G>T) c.*567+72G>T (n.*567+72G>T) c.500+72G>T (n.500+72G>T) c.653+72G>T (n.653+72G>T) c.833+72G>T (n.833+72G>T) | gnomAD v4 |
| 7 | g.117535484G>T | CA2684617682 | CFTR | c.743+73G>T (n.743+73G>T) c.*640+73G>T (n.*640+73G>T) c.*567+73G>T (n.*567+73G>T) c.500+73G>T (n.500+73G>T) c.653+73G>T (n.653+73G>T) c.833+73G>T (n.833+73G>T) | gnomAD v4 |
| 7 | g.117535485A= | CA1737362237 | CFTR | c.743+74A= (n.743+74A=) c.*640+74A= (n.*640+74A=) c.*567+74A= (n.*567+74A=) c.500+74A= (n.500+74A=) c.653+74A= (n.653+74A=) c.833+74A= (n.833+74A=) | |
| 7 | g.117535485A>G | CA2514142746 | CFTR | c.743+74A>G (n.743+74A>G) c.*640+74A>G (n.*640+74A>G) c.*567+74A>G (n.*567+74A>G) c.500+74A>G (n.500+74A>G) c.653+74A>G (n.653+74A>G) c.833+74A>G (n.833+74A>G) | |
| 7 | g.117535485A>T | CA1737362238 | CFTR | c.743+74A>T (n.743+74A>T) c.*640+74A>T (n.*640+74A>T) c.*567+74A>T (n.*567+74A>T) c.500+74A>T (n.500+74A>T) c.653+74A>T (n.653+74A>T) c.833+74A>T (n.833+74A>T) | dbSNP |
| 7 | g.117535486C>A | CA2579000108 | CFTR | c.743+75C>A (n.743+75C>A) c.*640+75C>A (n.*640+75C>A) c.*567+75C>A (n.*567+75C>A) c.500+75C>A (n.500+75C>A) c.653+75C>A (n.653+75C>A) c.833+75C>A (n.833+75C>A) | gnomAD v4 |
| 7 | g.117535486C= | CA1737362239 | CFTR | c.743+75C= (n.743+75C=) c.*640+75C= (n.*640+75C=) c.*567+75C= (n.*567+75C=) c.500+75C= (n.500+75C=) c.653+75C= (n.653+75C=) c.833+75C= (n.833+75C=) | |
| 7 | g.117535486C>G | CA1737362240 | CFTR | c.743+75C>G (n.743+75C>G) c.*640+75C>G (n.*640+75C>G) c.*567+75C>G (n.*567+75C>G) c.500+75C>G (n.500+75C>G) c.653+75C>G (n.653+75C>G) c.833+75C>G (n.833+75C>G) | dbSNP |
| 7 | g.117535486C>T | CA2684617683 | CFTR | c.743+75C>T (n.743+75C>T) c.*640+75C>T (n.*640+75C>T) c.*567+75C>T (n.*567+75C>T) c.500+75C>T (n.500+75C>T) c.653+75C>T (n.653+75C>T) c.833+75C>T (n.833+75C>T) | gnomAD v4 |
| 7 | g.117535487T>A | CA2684617684 | CFTR | c.743+76T>A (n.743+76T>A) c.*640+76T>A (n.*640+76T>A) c.*567+76T>A (n.*567+76T>A) c.500+76T>A (n.500+76T>A) c.653+76T>A (n.653+76T>A) c.833+76T>A (n.833+76T>A) | gnomAD v4 |
| 7 | g.117535488G>A | CA2684617685 | CFTR | c.743+77G>A (n.743+77G>A) c.*640+77G>A (n.*640+77G>A) c.*567+77G>A (n.*567+77G>A) c.500+77G>A (n.500+77G>A) c.653+77G>A (n.653+77G>A) c.833+77G>A (n.833+77G>A) | gnomAD v4 |
| 7 | g.117535488G>T | CA2684617686 | CFTR | c.743+77G>T (n.743+77G>T) c.*640+77G>T (n.*640+77G>T) c.*567+77G>T (n.*567+77G>T) c.500+77G>T (n.500+77G>T) c.653+77G>T (n.653+77G>T) c.833+77G>T (n.833+77G>T) | gnomAD v4 |
| 7 | g.117535489C>A | CA2579000109 | CFTR | c.743+78C>A (n.743+78C>A) c.*640+78C>A (n.*640+78C>A) c.*567+78C>A (n.*567+78C>A) c.500+78C>A (n.500+78C>A) c.653+78C>A (n.653+78C>A) c.833+78C>A (n.833+78C>A) | gnomAD v4 |
| 7 | g.117535489C>T | CA2579000110 | CFTR | c.743+78C>T (n.743+78C>T) c.*640+78C>T (n.*640+78C>T) c.*567+78C>T (n.*567+78C>T) c.500+78C>T (n.500+78C>T) c.653+78C>T (n.653+78C>T) c.833+78C>T (n.833+78C>T) | gnomAD v4 |
| 7 | g.117535490T>C | CA2684617687 | CFTR | c.743+79T>C (n.743+79T>C) c.*640+79T>C (n.*640+79T>C) c.*567+79T>C (n.*567+79T>C) c.500+79T>C (n.500+79T>C) c.653+79T>C (n.653+79T>C) c.833+79T>C (n.833+79T>C) | gnomAD v4 |
| 7 | g.117535491C>A | CA2684617688 | CFTR | c.743+80C>A (n.743+80C>A) c.*640+80C>A (n.*640+80C>A) c.*567+80C>A (n.*567+80C>A) c.500+80C>A (n.500+80C>A) c.653+80C>A (n.653+80C>A) c.833+80C>A (n.833+80C>A) | gnomAD v4 |
| 7 | g.117535491C= | CA1737362242 | CFTR | c.743+80C= (n.743+80C=) c.*640+80C= (n.*640+80C=) c.*567+80C= (n.*567+80C=) c.500+80C= (n.500+80C=) c.653+80C= (n.653+80C=) c.833+80C= (n.833+80C=) | |
| 7 | g.117535491C>G | CA577213759 | CFTR | c.743+80C>G (n.743+80C>G) c.*640+80C>G (n.*640+80C>G) c.*567+80C>G (n.*567+80C>G) c.500+80C>G (n.500+80C>G) c.653+80C>G (n.653+80C>G) c.833+80C>G (n.833+80C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535491C>T | CA1737362241 | CFTR | c.743+80C>T (n.743+80C>T) c.*640+80C>T (n.*640+80C>T) c.*567+80C>T (n.*567+80C>T) c.500+80C>T (n.500+80C>T) c.653+80C>T (n.653+80C>T) c.833+80C>T (n.833+80C>T) | dbSNP gnomAD v4 |
| 7 | g.117535492del | CA2579000111 | CFTR | c.743+81del (n.743+81del) c.*640+81del (n.*640+81del) c.*567+81del (n.*567+81del) c.500+81del (n.500+81del) c.653+81del (n.653+81del) c.833+81del (n.833+81del) | |
| 7 | g.117535492T>A | CA2579000112 | CFTR | c.743+81T>A (n.743+81T>A) c.*640+81T>A (n.*640+81T>A) c.*567+81T>A (n.*567+81T>A) c.500+81T>A (n.500+81T>A) c.653+81T>A (n.653+81T>A) c.833+81T>A (n.833+81T>A) | gnomAD v4 |
| 7 | g.117535493A>C | CA2579000113 | CFTR | c.743+82A>C (n.743+82A>C) c.*640+82A>C (n.*640+82A>C) c.*567+82A>C (n.*567+82A>C) c.500+82A>C (n.500+82A>C) c.653+82A>C (n.653+82A>C) c.833+82A>C (n.833+82A>C) | |
| 7 | g.117535493A>T | CA2684617689 | CFTR | c.743+82A>T (n.743+82A>T) c.*640+82A>T (n.*640+82A>T) c.*567+82A>T (n.*567+82A>T) c.500+82A>T (n.500+82A>T) c.653+82A>T (n.653+82A>T) c.833+82A>T (n.833+82A>T) | gnomAD v4 |
| 7 | g.117535494T>A | CA2684617690 | CFTR | c.743+83T>A (n.743+83T>A) c.*640+83T>A (n.*640+83T>A) c.*567+83T>A (n.*567+83T>A) c.500+83T>A (n.500+83T>A) c.653+83T>A (n.653+83T>A) c.833+83T>A (n.833+83T>A) | gnomAD v4 |
| 7 | g.117535494T>C | CA164945800 | CFTR | c.743+83T>C (n.743+83T>C) c.*640+83T>C (n.*640+83T>C) c.*567+83T>C (n.*567+83T>C) c.500+83T>C (n.500+83T>C) c.653+83T>C (n.653+83T>C) c.833+83T>C (n.833+83T>C) | dbSNP |
| 7 | g.117535494T>G | CA2684617691 | CFTR | c.743+83T>G (n.743+83T>G) c.*640+83T>G (n.*640+83T>G) c.*567+83T>G (n.*567+83T>G) c.500+83T>G (n.500+83T>G) c.653+83T>G (n.653+83T>G) c.833+83T>G (n.833+83T>G) | gnomAD v4 |
| 7 | g.117535494T= | CA1737362243 | CFTR | c.743+83T= (n.743+83T=) c.*640+83T= (n.*640+83T=) c.*567+83T= (n.*567+83T=) c.500+83T= (n.500+83T=) c.653+83T= (n.653+83T=) c.833+83T= (n.833+83T=) | |
| 7 | g.117535495G>A | CA2579000114 | CFTR | c.743+84G>A (n.743+84G>A) c.*640+84G>A (n.*640+84G>A) c.*567+84G>A (n.*567+84G>A) c.500+84G>A (n.500+84G>A) c.653+84G>A (n.653+84G>A) c.833+84G>A (n.833+84G>A) | gnomAD v4 |
| 7 | g.117535495G>T | CA2684617692 | CFTR | c.743+84G>T (n.743+84G>T) c.*640+84G>T (n.*640+84G>T) c.*567+84G>T (n.*567+84G>T) c.500+84G>T (n.500+84G>T) c.653+84G>T (n.653+84G>T) c.833+84G>T (n.833+84G>T) | gnomAD v4 |
| 7 | g.117535496C>A | CA2579000115 | CFTR | c.743+85C>A (n.743+85C>A) c.*640+85C>A (n.*640+85C>A) c.*567+85C>A (n.*567+85C>A) c.500+85C>A (n.500+85C>A) c.653+85C>A (n.653+85C>A) c.833+85C>A (n.833+85C>A) | gnomAD v4 |
| 7 | g.117535497A= | CA1737362244 | CFTR | c.743+86A= (n.743+86A=) c.*640+86A= (n.*640+86A=) c.*567+86A= (n.*567+86A=) c.500+86A= (n.500+86A=) c.653+86A= (n.653+86A=) c.833+86A= (n.833+86A=) | |
| 7 | g.117535497A>G | CA1106309339 | CFTR | c.743+86A>G (n.743+86A>G) c.*640+86A>G (n.*640+86A>G) c.*567+86A>G (n.*567+86A>G) c.500+86A>G (n.500+86A>G) c.653+86A>G (n.653+86A>G) c.833+86A>G (n.833+86A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535497A>T | CA2684617693 | CFTR | c.743+86A>T (n.743+86A>T) c.*640+86A>T (n.*640+86A>T) c.*567+86A>T (n.*567+86A>T) c.500+86A>T (n.500+86A>T) c.653+86A>T (n.653+86A>T) c.833+86A>T (n.833+86A>T) | gnomAD v4 |
| 7 | g.117535498T>A | CA2579000116 | CFTR | c.743+87T>A (n.743+87T>A) c.*640+87T>A (n.*640+87T>A) c.*567+87T>A (n.*567+87T>A) c.500+87T>A (n.500+87T>A) c.653+87T>A (n.653+87T>A) c.833+87T>A (n.833+87T>A) | gnomAD v4 |
| 7 | g.117535498T>C | CA1106309341 | CFTR | c.743+87T>C (n.743+87T>C) c.*640+87T>C (n.*640+87T>C) c.*567+87T>C (n.*567+87T>C) c.500+87T>C (n.500+87T>C) c.653+87T>C (n.653+87T>C) c.833+87T>C (n.833+87T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535498T= | CA1737362245 | CFTR | c.743+87T= (n.743+87T=) c.*640+87T= (n.*640+87T=) c.*567+87T= (n.*567+87T=) c.500+87T= (n.500+87T=) c.653+87T= (n.653+87T=) c.833+87T= (n.833+87T=) | |
| 7 | g.117535499A>T | CA2579000117 | CFTR | c.743+88A>T (n.743+88A>T) c.*640+88A>T (n.*640+88A>T) c.*567+88A>T (n.*567+88A>T) c.500+88A>T (n.500+88A>T) c.653+88A>T (n.653+88A>T) c.833+88A>T (n.833+88A>T) | gnomAD v4 |
| 7 | g.117535500G>A | CA1106309370 | CFTR | c.743+89G>A (n.743+89G>A) c.*640+89G>A (n.*640+89G>A) c.*567+89G>A (n.*567+89G>A) c.500+89G>A (n.500+89G>A) c.653+89G>A (n.653+89G>A) c.833+89G>A (n.833+89G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535500G>C | CA2684617694 | CFTR | c.743+89G>C (n.743+89G>C) c.*640+89G>C (n.*640+89G>C) c.*567+89G>C (n.*567+89G>C) c.500+89G>C (n.500+89G>C) c.653+89G>C (n.653+89G>C) c.833+89G>C (n.833+89G>C) | gnomAD v4 |
| 7 | g.117535500G= | CA1737362246 | CFTR | c.743+89G= (n.743+89G=) c.*640+89G= (n.*640+89G=) c.*567+89G= (n.*567+89G=) c.500+89G= (n.500+89G=) c.653+89G= (n.653+89G=) c.833+89G= (n.833+89G=) | |
| 7 | g.117535500G>T | CA2684617695 | CFTR | c.743+89G>T (n.743+89G>T) c.*640+89G>T (n.*640+89G>T) c.*567+89G>T (n.*567+89G>T) c.500+89G>T (n.500+89G>T) c.653+89G>T (n.653+89G>T) c.833+89G>T (n.833+89G>T) | gnomAD v4 |
| 7 | g.117535501A>T | CA2684617696 | CFTR | c.743+90A>T (n.743+90A>T) c.*640+90A>T (n.*640+90A>T) c.*567+90A>T (n.*567+90A>T) c.500+90A>T (n.500+90A>T) c.653+90A>T (n.653+90A>T) c.833+90A>T (n.833+90A>T) | gnomAD v4 |
| 7 | g.117535502del | CA2579000118 | CFTR | c.743+91del (n.743+91del) c.*640+91del (n.*640+91del) c.*567+91del (n.*567+91del) c.500+91del (n.500+91del) c.653+91del (n.653+91del) c.833+91del (n.833+91del) | gnomAD v4 |
| 7 | g.117535502A>C | CA2684617697 | CFTR | c.743+91A>C (n.743+91A>C) c.*640+91A>C (n.*640+91A>C) c.*567+91A>C (n.*567+91A>C) c.500+91A>C (n.500+91A>C) c.653+91A>C (n.653+91A>C) c.833+91A>C (n.833+91A>C) | gnomAD v4 |
| 7 | g.117535502A>G | CA2579000119 | CFTR | c.743+91A>G (n.743+91A>G) c.*640+91A>G (n.*640+91A>G) c.*567+91A>G (n.*567+91A>G) c.500+91A>G (n.500+91A>G) c.653+91A>G (n.653+91A>G) c.833+91A>G (n.833+91A>G) | gnomAD v4 |
| 7 | g.117535502A>T | CA2684617698 | CFTR | c.743+91A>T (n.743+91A>T) c.*640+91A>T (n.*640+91A>T) c.*567+91A>T (n.*567+91A>T) c.500+91A>T (n.500+91A>T) c.653+91A>T (n.653+91A>T) c.833+91A>T (n.833+91A>T) | gnomAD v4 |
| 7 | g.117535503C>A | CA2579000120 | CFTR | c.743+92C>A (n.743+92C>A) c.*640+92C>A (n.*640+92C>A) c.*567+92C>A (n.*567+92C>A) c.500+92C>A (n.500+92C>A) c.653+92C>A (n.653+92C>A) c.833+92C>A (n.833+92C>A) | gnomAD v4 |
| 7 | g.117535503C= | CA1737362247 | CFTR | c.743+92C= (n.743+92C=) c.*640+92C= (n.*640+92C=) c.*567+92C= (n.*567+92C=) c.500+92C= (n.500+92C=) c.653+92C= (n.653+92C=) c.833+92C= (n.833+92C=) | |
| 7 | g.117535503C>G | CA2579000121 | CFTR | c.743+92C>G (n.743+92C>G) c.*640+92C>G (n.*640+92C>G) c.*567+92C>G (n.*567+92C>G) c.500+92C>G (n.500+92C>G) c.653+92C>G (n.653+92C>G) c.833+92C>G (n.833+92C>G) | |
| 7 | g.117535503C>T | CA1737362248 | CFTR | c.743+92C>T (n.743+92C>T) c.*640+92C>T (n.*640+92C>T) c.*567+92C>T (n.*567+92C>T) c.500+92C>T (n.500+92C>T) c.653+92C>T (n.653+92C>T) c.833+92C>T (n.833+92C>T) | dbSNP gnomAD v4 |
| 7 | g.117535504A= | CA1737362249 | CFTR | c.743+93A= (n.743+93A=) c.*640+93A= (n.*640+93A=) c.*567+93A= (n.*567+93A=) c.500+93A= (n.500+93A=) c.653+93A= (n.653+93A=) c.833+93A= (n.833+93A=) | |
| 7 | g.117535504A>C | CA2684617699 | CFTR | c.743+93A>C (n.743+93A>C) c.*640+93A>C (n.*640+93A>C) c.*567+93A>C (n.*567+93A>C) c.500+93A>C (n.500+93A>C) c.653+93A>C (n.653+93A>C) c.833+93A>C (n.833+93A>C) | gnomAD v4 |
| 7 | g.117535504A>G | CA164945801 | CFTR | c.743+93A>G (n.743+93A>G) c.*640+93A>G (n.*640+93A>G) c.*567+93A>G (n.*567+93A>G) c.500+93A>G (n.500+93A>G) c.653+93A>G (n.653+93A>G) c.833+93A>G (n.833+93A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535504A>T | CA2684617700 | CFTR | c.743+93A>T (n.743+93A>T) c.*640+93A>T (n.*640+93A>T) c.*567+93A>T (n.*567+93A>T) c.500+93A>T (n.500+93A>T) c.653+93A>T (n.653+93A>T) c.833+93A>T (n.833+93A>T) | gnomAD v4 |
| 7 | g.117535504_117535509del | CA2777587612 | CFTR | c.743+93_743+98del (n.743+93_743+98del) c.*640+93_*640+98del (n.*640+93_*640+98del) c.*567+93_*567+98del (n.*567+93_*567+98del) c.500+93_500+98del (n.500+93_500+98del) c.653+93_653+98del (n.653+93_653+98del) c.833+93_833+98del (n.833+93_833+98del) | |
| 7 | g.117535505G>A | CA2579000122 | CFTR | c.743+94G>A (n.743+94G>A) c.*640+94G>A (n.*640+94G>A) c.*567+94G>A (n.*567+94G>A) c.500+94G>A (n.500+94G>A) c.653+94G>A (n.653+94G>A) c.833+94G>A (n.833+94G>A) | |
| 7 | g.117535505G>C | CA2579000123 | CFTR | c.743+94G>C (n.743+94G>C) c.*640+94G>C (n.*640+94G>C) c.*567+94G>C (n.*567+94G>C) c.500+94G>C (n.500+94G>C) c.653+94G>C (n.653+94G>C) c.833+94G>C (n.833+94G>C) | gnomAD v4 |
| 7 | g.117535505G= | CA1737362250 | CFTR | c.743+94G= (n.743+94G=) c.*640+94G= (n.*640+94G=) c.*567+94G= (n.*567+94G=) c.500+94G= (n.500+94G=) c.653+94G= (n.653+94G=) c.833+94G= (n.833+94G=) | |
| 7 | g.117535505G>T | CA577213764 | CFTR | c.743+94G>T (n.743+94G>T) c.*640+94G>T (n.*640+94G>T) c.*567+94G>T (n.*567+94G>T) c.500+94G>T (n.500+94G>T) c.653+94G>T (n.653+94G>T) c.833+94G>T (n.833+94G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535506T>A | CA2684617702 | CFTR | c.743+95T>A (n.743+95T>A) c.*640+95T>A (n.*640+95T>A) c.*567+95T>A (n.*567+95T>A) c.500+95T>A (n.500+95T>A) c.653+95T>A (n.653+95T>A) c.833+95T>A (n.833+95T>A) | gnomAD v4 |
| 7 | g.117535506T>G | CA2684617703 | CFTR | c.743+95T>G (n.743+95T>G) c.*640+95T>G (n.*640+95T>G) c.*567+95T>G (n.*567+95T>G) c.500+95T>G (n.500+95T>G) c.653+95T>G (n.653+95T>G) c.833+95T>G (n.833+95T>G) | gnomAD v4 |
| 7 | g.117535506_117535507insCCT | CA2684617701 | CFTR | c.743+95_743+96insCCT (n.743+95_743+96insCCT) c.*640+95_*640+96insCCT (n.*640+95_*640+96insCCT) c.*567+95_*567+96insCCT (n.*567+95_*567+96insCCT) c.500+95_500+96insCCT (n.500+95_500+96insCCT) c.653+95_653+96insCCT (n.653+95_653+96insCCT) c.833+95_833+96insCCT (n.833+95_833+96insCCT) | gnomAD v4 |
| 7 | g.117535506_117535507insCCTG | CA2684617704 | CFTR | c.743+95_743+96insCCTG (n.743+95_743+96insCCTG) c.*640+95_*640+96insCCTG (n.*640+95_*640+96insCCTG) c.*567+95_*567+96insCCTG (n.*567+95_*567+96insCCTG) c.500+95_500+96insCCTG (n.500+95_500+96insCCTG) c.653+95_653+96insCCTG (n.653+95_653+96insCCTG) c.833+95_833+96insCCTG (n.833+95_833+96insCCTG) | gnomAD v4 |
| 7 | g.117535506_117535507insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG | CA2684617705 | CFTR | c.743+95_743+96insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG (n.743+95_743+96insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG) c.*640+95_*640+96insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG (n.*640+95_*640+96insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG) c.*567+95_*567+96insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG (n.*567+95_*567+96insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG) c.500+95_500+96insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG (n.500+95_500+96insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG) c.653+95_653+96insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG (n.653+95_653+96insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG) c.833+95_833+96insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG (n.833+95_833+96insCCTGGTTTTCAAAAAGCCCACTTTAGTAAAACCAG) | gnomAD v4 |
| 7 | g.117535507G>A | CA2579000124 | CFTR | c.743+96G>A (n.743+96G>A) c.*640+96G>A (n.*640+96G>A) c.*567+96G>A (n.*567+96G>A) c.500+96G>A (n.500+96G>A) c.653+96G>A (n.653+96G>A) c.833+96G>A (n.833+96G>A) | gnomAD v4 |
| 7 | g.117535507G>C | CA2579000126 | CFTR | c.743+96G>C (n.743+96G>C) c.*640+96G>C (n.*640+96G>C) c.*567+96G>C (n.*567+96G>C) c.500+96G>C (n.500+96G>C) c.653+96G>C (n.653+96G>C) c.833+96G>C (n.833+96G>C) | gnomAD v4 |
| 7 | g.117535507G>T | CA2579000125 | CFTR | c.743+96G>T (n.743+96G>T) c.*640+96G>T (n.*640+96G>T) c.*567+96G>T (n.*567+96G>T) c.500+96G>T (n.500+96G>T) c.653+96G>T (n.653+96G>T) c.833+96G>T (n.833+96G>T) | gnomAD v4 |
| 7 | g.117535508_117535509insAGA | CA2684617706 | CFTR | c.743+97_743+98insAGA (n.743+97_743+98insAGA) c.*640+97_*640+98insAGA (n.*640+97_*640+98insAGA) c.*567+97_*567+98insAGA (n.*567+97_*567+98insAGA) c.500+97_500+98insAGA (n.500+97_500+98insAGA) c.653+97_653+98insAGA (n.653+97_653+98insAGA) c.833+97_833+98insAGA (n.833+97_833+98insAGA) | gnomAD v4 |
| 7 | g.117535508A>C | CA2684617709 | CFTR | c.743+97A>C (n.743+97A>C) c.*640+97A>C (n.*640+97A>C) c.*567+97A>C (n.*567+97A>C) c.500+97A>C (n.500+97A>C) c.653+97A>C (n.653+97A>C) c.833+97A>C (n.833+97A>C) | gnomAD v4 |
| 7 | g.117535508A>G | CA2684617707 | CFTR | c.743+97A>G (n.743+97A>G) c.*640+97A>G (n.*640+97A>G) c.*567+97A>G (n.*567+97A>G) c.500+97A>G (n.500+97A>G) c.653+97A>G (n.653+97A>G) c.833+97A>G (n.833+97A>G) | gnomAD v4 |
| 7 | g.117535508A>T | CA2684617708 | CFTR | c.743+97A>T (n.743+97A>T) c.*640+97A>T (n.*640+97A>T) c.*567+97A>T (n.*567+97A>T) c.500+97A>T (n.500+97A>T) c.653+97A>T (n.653+97A>T) c.833+97A>T (n.833+97A>T) | gnomAD v4 |
| 7 | g.117535508_117535509insCTG | CA2684617710 | CFTR | c.743+97_743+98insCTG (n.743+97_743+98insCTG) c.*640+97_*640+98insCTG (n.*640+97_*640+98insCTG) c.*567+97_*567+98insCTG (n.*567+97_*567+98insCTG) c.500+97_500+98insCTG (n.500+97_500+98insCTG) c.653+97_653+98insCTG (n.653+97_653+98insCTG) c.833+97_833+98insCTG (n.833+97_833+98insCTG) | gnomAD v4 |
| 7 | g.117535509T>A | CA1737362252 | CFTR | c.743+98T>A (n.743+98T>A) c.*640+98T>A (n.*640+98T>A) c.*567+98T>A (n.*567+98T>A) c.500+98T>A (n.500+98T>A) c.653+98T>A (n.653+98T>A) c.833+98T>A (n.833+98T>A) | dbSNP gnomAD v4 |
| 7 | g.117535509T= | CA1737362251 | CFTR | c.743+98T= (n.743+98T=) c.*640+98T= (n.*640+98T=) c.*567+98T= (n.*567+98T=) c.500+98T= (n.500+98T=) c.653+98T= (n.653+98T=) c.833+98T= (n.833+98T=) | |
| 7 | g.117535510C>A | CA2579000127 | CFTR | c.743+99C>A (n.743+99C>A) c.*640+99C>A (n.*640+99C>A) c.*567+99C>A (n.*567+99C>A) c.500+99C>A (n.500+99C>A) c.653+99C>A (n.653+99C>A) c.833+99C>A (n.833+99C>A) | gnomAD v4 |
| 7 | g.117535510C= | CA1737362253 | CFTR | c.743+99C= (n.743+99C=) c.*640+99C= (n.*640+99C=) c.*567+99C= (n.*567+99C=) c.500+99C= (n.500+99C=) c.653+99C= (n.653+99C=) c.833+99C= (n.833+99C=) | |
| 7 | g.117535510C>G | CA1737362254 | CFTR | c.743+99C>G (n.743+99C>G) c.*640+99C>G (n.*640+99C>G) c.*567+99C>G (n.*567+99C>G) c.500+99C>G (n.500+99C>G) c.653+99C>G (n.653+99C>G) c.833+99C>G (n.833+99C>G) | dbSNP gnomAD v4 |
| 7 | g.117535510C>T | CA2684617711 | CFTR | c.743+99C>T (n.743+99C>T) c.*640+99C>T (n.*640+99C>T) c.*567+99C>T (n.*567+99C>T) c.500+99C>T (n.500+99C>T) c.653+99C>T (n.653+99C>T) c.833+99C>T (n.833+99C>T) | gnomAD v4 |
| 7 | g.117535510_117535511insACTG | CA2684617712 | CFTR | c.743+99_743+100insACTG (n.743+99_743+100insACTG) c.*640+99_*640+100insACTG (n.*640+99_*640+100insACTG) c.*567+99_*567+100insACTG (n.*567+99_*567+100insACTG) c.500+99_500+100insACTG (n.500+99_500+100insACTG) c.653+99_653+100insACTG (n.653+99_653+100insACTG) c.833+99_833+100insACTG (n.833+99_833+100insACTG) | gnomAD v4 |
| 7 | g.117535511T>C | CA2684617713 | CFTR | c.743+100T>C (n.743+100T>C) c.*640+100T>C (n.*640+100T>C) c.*567+100T>C (n.*567+100T>C) c.500+100T>C (n.500+100T>C) c.653+100T>C (n.653+100T>C) c.833+100T>C (n.833+100T>C) | gnomAD v4 |
| 7 | g.117535512_117535516del | CA2777587618 | CFTR | c.743+101_743+105del (n.743+101_743+105del) c.*640+101_*640+105del (n.*640+101_*640+105del) c.*567+101_*567+105del (n.*567+101_*567+105del) c.500+101_500+105del (n.500+101_500+105del) c.653+101_653+105del (n.653+101_653+105del) c.833+101_833+105del (n.833+101_833+105del) | |
| 7 | g.117535512T>A | CA2684617714 | CFTR | c.743+101T>A (n.743+101T>A) c.*640+101T>A (n.*640+101T>A) c.*567+101T>A (n.*567+101T>A) c.500+101T>A (n.500+101T>A) c.653+101T>A (n.653+101T>A) c.833+101T>A (n.833+101T>A) | gnomAD v4 |
| 7 | g.117535512T>C | CA2684617715 | CFTR | c.743+101T>C (n.743+101T>C) c.*640+101T>C (n.*640+101T>C) c.*567+101T>C (n.*567+101T>C) c.500+101T>C (n.500+101T>C) c.653+101T>C (n.653+101T>C) c.833+101T>C (n.833+101T>C) | gnomAD v4 |
| 7 | g.117535513C>A | CA832112534 | CFTR | c.743+102C>A (n.743+102C>A) c.*640+102C>A (n.*640+102C>A) c.*567+102C>A (n.*567+102C>A) c.500+102C>A (n.500+102C>A) c.653+102C>A (n.653+102C>A) c.833+102C>A (n.833+102C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535513C= | CA1737362255 | CFTR | c.743+102C= (n.743+102C=) c.*640+102C= (n.*640+102C=) c.*567+102C= (n.*567+102C=) c.500+102C= (n.500+102C=) c.653+102C= (n.653+102C=) c.833+102C= (n.833+102C=) | |
| 7 | g.117535513C>G | CA2684617716 | CFTR | c.743+102C>G (n.743+102C>G) c.*640+102C>G (n.*640+102C>G) c.*567+102C>G (n.*567+102C>G) c.500+102C>G (n.500+102C>G) c.653+102C>G (n.653+102C>G) c.833+102C>G (n.833+102C>G) | gnomAD v4 |
| 7 | g.117535513C>T | CA2684617717 | CFTR | c.743+102C>T (n.743+102C>T) c.*640+102C>T (n.*640+102C>T) c.*567+102C>T (n.*567+102C>T) c.500+102C>T (n.500+102C>T) c.653+102C>T (n.653+102C>T) c.833+102C>T (n.833+102C>T) | gnomAD v4 |
| 7 | g.117535514A= | CA1737362256 | CFTR | c.743+103A= (n.743+103A=) c.*640+103A= (n.*640+103A=) c.*567+103A= (n.*567+103A=) c.500+103A= (n.500+103A=) c.653+103A= (n.653+103A=) c.833+103A= (n.833+103A=) | |
| 7 | g.117535514A>C | CA2684617718 | CFTR | c.743+103A>C (n.743+103A>C) c.*640+103A>C (n.*640+103A>C) c.*567+103A>C (n.*567+103A>C) c.500+103A>C (n.500+103A>C) c.653+103A>C (n.653+103A>C) c.833+103A>C (n.833+103A>C) | gnomAD v4 |
| 7 | g.117535514A>G | CA832112536 | CFTR | c.743+103A>G (n.743+103A>G) c.*640+103A>G (n.*640+103A>G) c.*567+103A>G (n.*567+103A>G) c.500+103A>G (n.500+103A>G) c.653+103A>G (n.653+103A>G) c.833+103A>G (n.833+103A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535514A>T | CA2684617719 | CFTR | c.743+103A>T (n.743+103A>T) c.*640+103A>T (n.*640+103A>T) c.*567+103A>T (n.*567+103A>T) c.500+103A>T (n.500+103A>T) c.653+103A>T (n.653+103A>T) c.833+103A>T (n.833+103A>T) | gnomAD v4 |
| 7 | g.117535515G>A | CA2684617720 | CFTR | c.743+104G>A (n.743+104G>A) c.*640+104G>A (n.*640+104G>A) c.*567+104G>A (n.*567+104G>A) c.500+104G>A (n.500+104G>A) c.653+104G>A (n.653+104G>A) c.833+104G>A (n.833+104G>A) | gnomAD v4 |
| 7 | g.117535515G>T | CA2684617721 | CFTR | c.743+104G>T (n.743+104G>T) c.*640+104G>T (n.*640+104G>T) c.*567+104G>T (n.*567+104G>T) c.500+104G>T (n.500+104G>T) c.653+104G>T (n.653+104G>T) c.833+104G>T (n.833+104G>T) | gnomAD v4 |
| 7 | g.117535516T>G | CA1106309401 | CFTR | c.743+105T>G (n.743+105T>G) c.*640+105T>G (n.*640+105T>G) c.*567+105T>G (n.*567+105T>G) c.500+105T>G (n.500+105T>G) c.653+105T>G (n.653+105T>G) c.833+105T>G (n.833+105T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535516T= | CA1737362257 | CFTR | c.743+105T= (n.743+105T=) c.*640+105T= (n.*640+105T=) c.*567+105T= (n.*567+105T=) c.500+105T= (n.500+105T=) c.653+105T= (n.653+105T=) c.833+105T= (n.833+105T=) | |
| 7 | g.117535517G>A | CA1737362259 | CFTR | c.743+106G>A (n.743+106G>A) c.*640+106G>A (n.*640+106G>A) c.*567+106G>A (n.*567+106G>A) c.500+106G>A (n.500+106G>A) c.653+106G>A (n.653+106G>A) c.833+106G>A (n.833+106G>A) | dbSNP gnomAD v4 |
| 7 | g.117535517G= | CA1737362258 | CFTR | c.743+106G= (n.743+106G=) c.*640+106G= (n.*640+106G=) c.*567+106G= (n.*567+106G=) c.500+106G= (n.500+106G=) c.653+106G= (n.653+106G=) c.833+106G= (n.833+106G=) | |
| 7 | g.117535517G>T | CA1106309404 | CFTR | c.743+106G>T (n.743+106G>T) c.*640+106G>T (n.*640+106G>T) c.*567+106G>T (n.*567+106G>T) c.500+106G>T (n.500+106G>T) c.653+106G>T (n.653+106G>T) c.833+106G>T (n.833+106G>T) | gnomAD v3 gnomAD v4 |
| 7 | g.117535518T>A | CA2684617723 | CFTR | c.743+107T>A (n.743+107T>A) c.*640+107T>A (n.*640+107T>A) c.*567+107T>A (n.*567+107T>A) c.500+107T>A (n.500+107T>A) c.653+107T>A (n.653+107T>A) c.833+107T>A (n.833+107T>A) | gnomAD v4 |
| 7 | g.117535518T>C | CA2684617724 | CFTR | c.743+107T>C (n.743+107T>C) c.*640+107T>C (n.*640+107T>C) c.*567+107T>C (n.*567+107T>C) c.500+107T>C (n.500+107T>C) c.653+107T>C (n.653+107T>C) c.833+107T>C (n.833+107T>C) | gnomAD v4 |
| 7 | g.117535519_117535537del | CA2684617722 | CFTR | c.743+108_743+126del (n.743+108_743+126del) c.*640+108_*640+126del (n.*640+108_*640+126del) c.*567+108_*567+126del (n.*567+108_*567+126del) c.500+108_500+126del (n.500+108_500+126del) c.653+108_653+126del (n.653+108_653+126del) c.833+108_833+126del (n.833+108_833+126del) | gnomAD v4 |
| 7 | g.117535519C>A | CA1106309419 | CFTR | c.743+108C>A (n.743+108C>A) c.*640+108C>A (n.*640+108C>A) c.*567+108C>A (n.*567+108C>A) c.500+108C>A (n.500+108C>A) c.653+108C>A (n.653+108C>A) c.833+108C>A (n.833+108C>A) | gnomAD v3 gnomAD v4 |
| 7 | g.117535519C>T | CA2684617725 | CFTR | c.743+108C>T (n.743+108C>T) c.*640+108C>T (n.*640+108C>T) c.*567+108C>T (n.*567+108C>T) c.500+108C>T (n.500+108C>T) c.653+108C>T (n.653+108C>T) c.833+108C>T (n.833+108C>T) | gnomAD v4 |
| 7 | g.117535520A>G | CA2684617726 | CFTR | c.743+109A>G (n.743+109A>G) c.*640+109A>G (n.*640+109A>G) c.*567+109A>G (n.*567+109A>G) c.500+109A>G (n.500+109A>G) c.653+109A>G (n.653+109A>G) c.833+109A>G (n.833+109A>G) | gnomAD v4 |
| 7 | g.117535520A>T | CA2684617727 | CFTR | c.743+109A>T (n.743+109A>T) c.*640+109A>T (n.*640+109A>T) c.*567+109A>T (n.*567+109A>T) c.500+109A>T (n.500+109A>T) c.653+109A>T (n.653+109A>T) c.833+109A>T (n.833+109A>T) | gnomAD v4 |
| 7 | g.117535521T>C | CA164945804 | CFTR | c.743+110T>C (n.743+110T>C) c.*640+110T>C (n.*640+110T>C) c.*567+110T>C (n.*567+110T>C) c.500+110T>C (n.500+110T>C) c.653+110T>C (n.653+110T>C) c.833+110T>C (n.833+110T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535521T= | CA1737362260 | CFTR | c.743+110T= (n.743+110T=) c.*640+110T= (n.*640+110T=) c.*567+110T= (n.*567+110T=) c.500+110T= (n.500+110T=) c.653+110T= (n.653+110T=) c.833+110T= (n.833+110T=) | |
| 7 | g.117535522del | CA2684617728 | CFTR | c.743+111del (n.743+111del) c.*640+111del (n.*640+111del) c.*567+111del (n.*567+111del) c.500+111del (n.500+111del) c.653+111del (n.653+111del) c.833+111del (n.833+111del) | gnomAD v4 |
| 7 | g.117535522T>A | CA1106309427 | CFTR | c.743+111T>A (n.743+111T>A) c.*640+111T>A (n.*640+111T>A) c.*567+111T>A (n.*567+111T>A) c.500+111T>A (n.500+111T>A) c.653+111T>A (n.653+111T>A) c.833+111T>A (n.833+111T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535522T= | CA1737362261 | CFTR | c.743+111T= (n.743+111T=) c.*640+111T= (n.*640+111T=) c.*567+111T= (n.*567+111T=) c.500+111T= (n.500+111T=) c.653+111T= (n.653+111T=) c.833+111T= (n.833+111T=) | |
| 7 | g.117535523A>G | CA2684617729 | CFTR | c.743+112A>G (n.743+112A>G) c.*640+112A>G (n.*640+112A>G) c.*567+112A>G (n.*567+112A>G) c.500+112A>G (n.500+112A>G) c.653+112A>G (n.653+112A>G) c.833+112A>G (n.833+112A>G) | gnomAD v4 |
| 7 | g.117535523A>T | CA2684617730 | CFTR | c.743+112A>T (n.743+112A>T) c.*640+112A>T (n.*640+112A>T) c.*567+112A>T (n.*567+112A>T) c.500+112A>T (n.500+112A>T) c.653+112A>T (n.653+112A>T) c.833+112A>T (n.833+112A>T) | gnomAD v4 |
| 7 | g.117535525dup | CA2684617732 | CFTR | c.743+114dup (n.743+114dup) c.*640+114dup (n.*640+114dup) c.*567+114dup (n.*567+114dup) c.500+114dup (n.500+114dup) c.653+114dup (n.653+114dup) c.833+114dup (n.833+114dup) | gnomAD v4 |
| 7 | g.117535525del | CA2684617731 | CFTR | c.743+114del (n.743+114del) c.*640+114del (n.*640+114del) c.*567+114del (n.*567+114del) c.500+114del (n.500+114del) c.653+114del (n.653+114del) c.833+114del (n.833+114del) | gnomAD v4 |
| 7 | g.117535524A= | CA1737362262 | CFTR | c.743+113A= (n.743+113A=) c.*640+113A= (n.*640+113A=) c.*567+113A= (n.*567+113A=) c.500+113A= (n.500+113A=) c.653+113A= (n.653+113A=) c.833+113A= (n.833+113A=) | |
| 7 | g.117535524A>C | CA2684617733 | CFTR | c.743+113A>C (n.743+113A>C) c.*640+113A>C (n.*640+113A>C) c.*567+113A>C (n.*567+113A>C) c.500+113A>C (n.500+113A>C) c.653+113A>C (n.653+113A>C) c.833+113A>C (n.833+113A>C) | gnomAD v4 |
| 7 | g.117535524A>T | CA2684617734 | CFTR | c.743+113A>T (n.743+113A>T) c.*640+113A>T (n.*640+113A>T) c.*567+113A>T (n.*567+113A>T) c.500+113A>T (n.500+113A>T) c.653+113A>T (n.653+113A>T) c.833+113A>T (n.833+113A>T) | gnomAD v4 |
| 7 | g.117535524_117535525insT | CA1106309438 | CFTR | c.743+113_743+114insT (n.743+113_743+114insT) c.*640+113_*640+114insT (n.*640+113_*640+114insT) c.*567+113_*567+114insT (n.*567+113_*567+114insT) c.500+113_500+114insT (n.500+113_500+114insT) c.653+113_653+114insT (n.653+113_653+114insT) c.833+113_833+114insT (n.833+113_833+114insT) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535524_117535525insTT | CA2684617740 | CFTR | c.743+113_743+114insTT (n.743+113_743+114insTT) c.*640+113_*640+114insTT (n.*640+113_*640+114insTT) c.*567+113_*567+114insTT (n.*567+113_*567+114insTT) c.500+113_500+114insTT (n.500+113_500+114insTT) c.653+113_653+114insTT (n.653+113_653+114insTT) c.833+113_833+114insTT (n.833+113_833+114insTT) | gnomAD v4 |
| 7 | g.117535524_117535525insTTT | CA2684617739 | CFTR | c.743+113_743+114insTTT (n.743+113_743+114insTTT) c.*640+113_*640+114insTTT (n.*640+113_*640+114insTTT) c.*567+113_*567+114insTTT (n.*567+113_*567+114insTTT) c.500+113_500+114insTTT (n.500+113_500+114insTTT) c.653+113_653+114insTTT (n.653+113_653+114insTTT) c.833+113_833+114insTTT (n.833+113_833+114insTTT) | gnomAD v4 |
| 7 | g.117535524_117535525insCTTT | CA1106309434 | CFTR | c.743+113_743+114insCTTT (n.743+113_743+114insCTTT) c.*640+113_*640+114insCTTT (n.*640+113_*640+114insCTTT) c.*567+113_*567+114insCTTT (n.*567+113_*567+114insCTTT) c.500+113_500+114insCTTT (n.500+113_500+114insCTTT) c.653+113_653+114insCTTT (n.653+113_653+114insCTTT) c.833+113_833+114insCTTT (n.833+113_833+114insCTTT) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535524_117535525insTTTT | CA2684617738 | CFTR | c.743+113_743+114insTTTT (n.743+113_743+114insTTTT) c.*640+113_*640+114insTTTT (n.*640+113_*640+114insTTTT) c.*567+113_*567+114insTTTT (n.*567+113_*567+114insTTTT) c.500+113_500+114insTTTT (n.500+113_500+114insTTTT) c.653+113_653+114insTTTT (n.653+113_653+114insTTTT) c.833+113_833+114insTTTT (n.833+113_833+114insTTTT) | gnomAD v4 |
| 7 | g.117535525A= | CA1737362263 | CFTR | c.743+114A= (n.743+114A=) c.*640+114A= (n.*640+114A=) c.*567+114A= (n.*567+114A=) c.500+114A= (n.500+114A=) c.653+114A= (n.653+114A=) c.833+114A= (n.833+114A=) | |
| 7 | g.117535525A>T | CA164945810 | CFTR | c.743+114A>T (n.743+114A>T) c.*640+114A>T (n.*640+114A>T) c.*567+114A>T (n.*567+114A>T) c.500+114A>T (n.500+114A>T) c.653+114A>T (n.653+114A>T) c.833+114A>T (n.833+114A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535525_117535526del | CA651895375 | CFTR | c.743+114_743+115del (n.743+114_743+115del) c.*640+114_*640+115del (n.*640+114_*640+115del) c.*567+114_*567+115del (n.*567+114_*567+115del) c.500+114_500+115del (n.500+114_500+115del) c.653+114_653+115del (n.653+114_653+115del) c.833+114_833+115del (n.833+114_833+115del) | gnomAD v4 COSMIC |
| 7 | g.117535525_117535527del | CA2684617737 | CFTR | c.743+114_743+116del (n.743+114_743+116del) c.*640+114_*640+116del (n.*640+114_*640+116del) c.*567+114_*567+116del (n.*567+114_*567+116del) c.500+114_500+116del (n.500+114_500+116del) c.653+114_653+116del (n.653+114_653+116del) c.833+114_833+116del (n.833+114_833+116del) | gnomAD v4 |
| 7 | g.117535525_117535528del | CA2684617736 | CFTR | c.743+114_743+117del (n.743+114_743+117del) c.*640+114_*640+117del (n.*640+114_*640+117del) c.*567+114_*567+117del (n.*567+114_*567+117del) c.500+114_500+117del (n.500+114_500+117del) c.653+114_653+117del (n.653+114_653+117del) c.833+114_833+117del (n.833+114_833+117del) | gnomAD v4 |
| 7 | g.117535525_117535529del | CA2684617735 | CFTR | c.743+114_743+118del (n.743+114_743+118del) c.*640+114_*640+118del (n.*640+114_*640+118del) c.*567+114_*567+118del (n.*567+114_*567+118del) c.500+114_500+118del (n.500+114_500+118del) c.653+114_653+118del (n.653+114_653+118del) c.833+114_833+118del (n.833+114_833+118del) | gnomAD v4 |
| 7 | g.117535525_117535530dup | CA2715545495 | CFTR | c.743+114_743+119dup (n.743+114_743+119dup) c.*640+114_*640+119dup (n.*640+114_*640+119dup) c.*567+114_*567+119dup (n.*567+114_*567+119dup) c.500+114_500+119dup (n.500+114_500+119dup) c.653+114_653+119dup (n.653+114_653+119dup) c.833+114_833+119dup (n.833+114_833+119dup) | dbSNP |
| 7 | g.117535525_117535531del | CA2777587635 | CFTR | c.743+114_743+120del (n.743+114_743+120del) c.*640+114_*640+120del (n.*640+114_*640+120del) c.*567+114_*567+120del (n.*567+114_*567+120del) c.500+114_500+120del (n.500+114_500+120del) c.653+114_653+120del (n.653+114_653+120del) c.833+114_833+120del (n.833+114_833+120del) | |
| 7 | g.117535525_117535535delinsATTTTTTTTTT | CA1737362264 | CFTR | c.743+114_743+124delinsATTTTTTTTTT (n.743+114_743+124delinsATTTTTTTTTT) c.*640+114_*640+124delinsATTTTTTTTTT (n.*640+114_*640+124delinsATTTTTTTTTT) c.*567+114_*567+124delinsATTTTTTTTTT (n.*567+114_*567+124delinsATTTTTTTTTT) c.500+114_500+124delinsATTTTTTTTTT (n.500+114_500+124delinsATTTTTTTTTT) c.653+114_653+124delinsATTTTTTTTTT (n.653+114_653+124delinsATTTTTTTTTT) c.833+114_833+124delinsATTTTTTTTTT (n.833+114_833+124delinsATTTTTTTTTT) | |
| 7 | g.117535525_117535526insAT | CA2684617745 | CFTR | c.743+114_743+115insAT (n.743+114_743+115insAT) c.*640+114_*640+115insAT (n.*640+114_*640+115insAT) c.*567+114_*567+115insAT (n.*567+114_*567+115insAT) c.500+114_500+115insAT (n.500+114_500+115insAT) c.653+114_653+115insAT (n.653+114_653+115insAT) c.833+114_833+115insAT (n.833+114_833+115insAT) | gnomAD v4 |
| 7 | g.117535525_117535526insATTT | CA2684617746 | CFTR | c.743+114_743+115insATTT (n.743+114_743+115insATTT) c.*640+114_*640+115insATTT (n.*640+114_*640+115insATTT) c.*567+114_*567+115insATTT (n.*567+114_*567+115insATTT) c.500+114_500+115insATTT (n.500+114_500+115insATTT) c.653+114_653+115insATTT (n.653+114_653+115insATTT) c.833+114_833+115insATTT (n.833+114_833+115insATTT) | gnomAD v4 |
| 7 | g.117535526T>A | CA577213777 | CFTR | c.743+115T>A (n.743+115T>A) c.*640+115T>A (n.*640+115T>A) c.*567+115T>A (n.*567+115T>A) c.500+115T>A (n.500+115T>A) c.653+115T>A (n.653+115T>A) c.833+115T>A (n.833+115T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535526T= | CA1737362265 | CFTR | c.743+115T= (n.743+115T=) c.*640+115T= (n.*640+115T=) c.*567+115T= (n.*567+115T=) c.500+115T= (n.500+115T=) c.653+115T= (n.653+115T=) c.833+115T= (n.833+115T=) | |
| 7 | g.117535547_117535548insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1106309580 | CFTR | c.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.117535547_117535548insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1106309585 | CFTR | c.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.117535547_117535548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1106309590 | CFTR | c.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.117535547_117535548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1106309525 | CFTR | c.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.117535547_117535548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1106309470 | CFTR | c.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.117535547_117535548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1106309481 | CFTR | c.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.117535547_117535548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1106309487 | CFTR | c.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.117535547_117535548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1106309489 | CFTR | c.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.117535547_117535548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1106309501 | CFTR | c.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743+136_743+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*640+136_*640+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*567+136_*567+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.500+136_500+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653+136_653+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.833+136_833+137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.117535547_117535548insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1106309526 | CFTR | c.743+136_743+137insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743+136_743+137insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*640+136_*640+137insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*640+136_*640+137insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*567+136_*567+137insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*567+136_*567+137insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.500+136_500+137insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.500+136_500+137insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653+136_653+137insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653+136_653+137insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.833+136_833+137insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.833+136_833+137insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.117535547dup | CA164945820 | CFTR | c.743+136dup (n.743+136dup) c.*640+136dup (n.*640+136dup) c.*567+136dup (n.*567+136dup) c.500+136dup (n.500+136dup) c.653+136dup (n.653+136dup) c.833+136dup (n.833+136dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535546_117535547dup | CA577213768 | CFTR | c.743+135_743+136dup (n.743+135_743+136dup) c.*640+135_*640+136dup (n.*640+135_*640+136dup) c.*567+135_*567+136dup (n.*567+135_*567+136dup) c.500+135_500+136dup (n.500+135_500+136dup) c.653+135_653+136dup (n.653+135_653+136dup) c.833+135_833+136dup (n.833+135_833+136dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535545_117535547dup | CA577213772 | CFTR | c.743+134_743+136dup (n.743+134_743+136dup) c.*640+134_*640+136dup (n.*640+134_*640+136dup) c.*567+134_*567+136dup (n.*567+134_*567+136dup) c.500+134_500+136dup (n.500+134_500+136dup) c.653+134_653+136dup (n.653+134_653+136dup) c.833+134_833+136dup (n.833+134_833+136dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535544_117535547dup | CA577213775 | CFTR | c.743+133_743+136dup (n.743+133_743+136dup) c.*640+133_*640+136dup (n.*640+133_*640+136dup) c.*567+133_*567+136dup (n.*567+133_*567+136dup) c.500+133_500+136dup (n.500+133_500+136dup) c.653+133_653+136dup (n.653+133_653+136dup) c.833+133_833+136dup (n.833+133_833+136dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535543_117535547dup | CA577213776 | CFTR | c.743+132_743+136dup (n.743+132_743+136dup) c.*640+132_*640+136dup (n.*640+132_*640+136dup) c.*567+132_*567+136dup (n.*567+132_*567+136dup) c.500+132_500+136dup (n.500+132_500+136dup) c.653+132_653+136dup (n.653+132_653+136dup) c.833+132_833+136dup (n.833+132_833+136dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535542_117535547dup | CA1106309519 | CFTR | c.743+131_743+136dup (n.743+131_743+136dup) c.*640+131_*640+136dup (n.*640+131_*640+136dup) c.*567+131_*567+136dup (n.*567+131_*567+136dup) c.500+131_500+136dup (n.500+131_500+136dup) c.653+131_653+136dup (n.653+131_653+136dup) c.833+131_833+136dup (n.833+131_833+136dup) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535541_117535547dup | CA1106309538 | CFTR | c.743+130_743+136dup (n.743+130_743+136dup) c.*640+130_*640+136dup (n.*640+130_*640+136dup) c.*567+130_*567+136dup (n.*567+130_*567+136dup) c.500+130_500+136dup (n.500+130_500+136dup) c.653+130_653+136dup (n.653+130_653+136dup) c.833+130_833+136dup (n.833+130_833+136dup) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535540_117535547dup | CA1106309539 | CFTR | c.743+129_743+136dup (n.743+129_743+136dup) c.*640+129_*640+136dup (n.*640+129_*640+136dup) c.*567+129_*567+136dup (n.*567+129_*567+136dup) c.500+129_500+136dup (n.500+129_500+136dup) c.653+129_653+136dup (n.653+129_653+136dup) c.833+129_833+136dup (n.833+129_833+136dup) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535539_117535547dup | CA1106309593 | CFTR | c.743+128_743+136dup (n.743+128_743+136dup) c.*640+128_*640+136dup (n.*640+128_*640+136dup) c.*567+128_*567+136dup (n.*567+128_*567+136dup) c.500+128_500+136dup (n.500+128_500+136dup) c.653+128_653+136dup (n.653+128_653+136dup) c.833+128_833+136dup (n.833+128_833+136dup) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535538_117535547dup | CA1106309544 | CFTR | c.743+127_743+136dup (n.743+127_743+136dup) c.*640+127_*640+136dup (n.*640+127_*640+136dup) c.*567+127_*567+136dup (n.*567+127_*567+136dup) c.500+127_500+136dup (n.500+127_500+136dup) c.653+127_653+136dup (n.653+127_653+136dup) c.833+127_833+136dup (n.833+127_833+136dup) | gnomAD v3 gnomAD v4 |
| 7 | g.117535537_117535547dup | CA2684617744 | CFTR | c.743+126_743+136dup (n.743+126_743+136dup) c.*640+126_*640+136dup (n.*640+126_*640+136dup) c.*567+126_*567+136dup (n.*567+126_*567+136dup) c.500+126_500+136dup (n.500+126_500+136dup) c.653+126_653+136dup (n.653+126_653+136dup) c.833+126_833+136dup (n.833+126_833+136dup) | gnomAD v4 |
| 7 | g.117535536_117535547dup | CA1106309547 | CFTR | c.743+125_743+136dup (n.743+125_743+136dup) c.*640+125_*640+136dup (n.*640+125_*640+136dup) c.*567+125_*567+136dup (n.*567+125_*567+136dup) c.500+125_500+136dup (n.500+125_500+136dup) c.653+125_653+136dup (n.653+125_653+136dup) c.833+125_833+136dup (n.833+125_833+136dup) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535535_117535547dup | CA1106309550 | CFTR | c.743+124_743+136dup (n.743+124_743+136dup) c.*640+124_*640+136dup (n.*640+124_*640+136dup) c.*567+124_*567+136dup (n.*567+124_*567+136dup) c.500+124_500+136dup (n.500+124_500+136dup) c.653+124_653+136dup (n.653+124_653+136dup) c.833+124_833+136dup (n.833+124_833+136dup) | gnomAD v3 gnomAD v4 |
| 7 | g.117535534_117535547dup | CA1106309553 | CFTR | c.743+123_743+136dup (n.743+123_743+136dup) c.*640+123_*640+136dup (n.*640+123_*640+136dup) c.*567+123_*567+136dup (n.*567+123_*567+136dup) c.500+123_500+136dup (n.500+123_500+136dup) c.653+123_653+136dup (n.653+123_653+136dup) c.833+123_833+136dup (n.833+123_833+136dup) | gnomAD v3 gnomAD v4 |
| 7 | g.117535547del | CA577213767 | CFTR | c.743+136del (n.743+136del) c.*640+136del (n.*640+136del) c.*567+136del (n.*567+136del) c.500+136del (n.500+136del) c.653+136del (n.653+136del) c.833+136del (n.833+136del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535546_117535547del | CA1106309505 | CFTR | c.743+135_743+136del (n.743+135_743+136del) c.*640+135_*640+136del (n.*640+135_*640+136del) c.*567+135_*567+136del (n.*567+135_*567+136del) c.500+135_500+136del (n.500+135_500+136del) c.653+135_653+136del (n.653+135_653+136del) c.833+135_833+136del (n.833+135_833+136del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535545_117535547del | CA1106309508 | CFTR | c.743+134_743+136del (n.743+134_743+136del) c.*640+134_*640+136del (n.*640+134_*640+136del) c.*567+134_*567+136del (n.*567+134_*567+136del) c.500+134_500+136del (n.500+134_500+136del) c.653+134_653+136del (n.653+134_653+136del) c.833+134_833+136del (n.833+134_833+136del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535544_117535547del | CA164945830 | CFTR | c.743+133_743+136del (n.743+133_743+136del) c.*640+133_*640+136del (n.*640+133_*640+136del) c.*567+133_*567+136del (n.*567+133_*567+136del) c.500+133_500+136del (n.500+133_500+136del) c.653+133_653+136del (n.653+133_653+136del) c.833+133_833+136del (n.833+133_833+136del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535543_117535547del | CA1106309513 | CFTR | c.743+132_743+136del (n.743+132_743+136del) c.*640+132_*640+136del (n.*640+132_*640+136del) c.*567+132_*567+136del (n.*567+132_*567+136del) c.500+132_500+136del (n.500+132_500+136del) c.653+132_653+136del (n.653+132_653+136del) c.833+132_833+136del (n.833+132_833+136del) | gnomAD v4 |
| 7 | g.117535542_117535547del | CA832112552 | CFTR | c.743+131_743+136del (n.743+131_743+136del) c.*640+131_*640+136del (n.*640+131_*640+136del) c.*567+131_*567+136del (n.*567+131_*567+136del) c.500+131_500+136del (n.500+131_500+136del) c.653+131_653+136del (n.653+131_653+136del) c.833+131_833+136del (n.833+131_833+136del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535541_117535547del | CA832112551 | CFTR | c.743+130_743+136del (n.743+130_743+136del) c.*640+130_*640+136del (n.*640+130_*640+136del) c.*567+130_*567+136del (n.*567+130_*567+136del) c.500+130_500+136del (n.500+130_500+136del) c.653+130_653+136del (n.653+130_653+136del) c.833+130_833+136del (n.833+130_833+136del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535540_117535547del | CA832112550 | CFTR | c.743+129_743+136del (n.743+129_743+136del) c.*640+129_*640+136del (n.*640+129_*640+136del) c.*567+129_*567+136del (n.*567+129_*567+136del) c.500+129_500+136del (n.500+129_500+136del) c.653+129_653+136del (n.653+129_653+136del) c.833+129_833+136del (n.833+129_833+136del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535539_117535547del | CA2684617742 | CFTR | c.743+128_743+136del (n.743+128_743+136del) c.*640+128_*640+136del (n.*640+128_*640+136del) c.*567+128_*567+136del (n.*567+128_*567+136del) c.500+128_500+136del (n.500+128_500+136del) c.653+128_653+136del (n.653+128_653+136del) c.833+128_833+136del (n.833+128_833+136del) | gnomAD v4 |
| 7 | g.117535538_117535547del | CA164945826 | CFTR | c.743+127_743+136del (n.743+127_743+136del) c.*640+127_*640+136del (n.*640+127_*640+136del) c.*567+127_*567+136del (n.*567+127_*567+136del) c.500+127_500+136del (n.500+127_500+136del) c.653+127_653+136del (n.653+127_653+136del) c.833+127_833+136del (n.833+127_833+136del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535537_117535547del | CA2684617741 | CFTR | c.743+126_743+136del (n.743+126_743+136del) c.*640+126_*640+136del (n.*640+126_*640+136del) c.*567+126_*567+136del (n.*567+126_*567+136del) c.500+126_500+136del (n.500+126_500+136del) c.653+126_653+136del (n.653+126_653+136del) c.833+126_833+136del (n.833+126_833+136del) | gnomAD v4 |
| 7 | g.117535536_117535547del | CA2684617743 | CFTR | c.743+125_743+136del (n.743+125_743+136del) c.*640+125_*640+136del (n.*640+125_*640+136del) c.*567+125_*567+136del (n.*567+125_*567+136del) c.500+125_500+136del (n.500+125_500+136del) c.653+125_653+136del (n.653+125_653+136del) c.833+125_833+136del (n.833+125_833+136del) | gnomAD v4 |
| 7 | g.117535527T>A | CA915940366 | CFTR | c.743+116T>A (n.743+116T>A) c.*640+116T>A (n.*640+116T>A) c.*567+116T>A (n.*567+116T>A) c.500+116T>A (n.500+116T>A) c.653+116T>A (n.653+116T>A) c.833+116T>A (n.833+116T>A) | gnomAD v4 |
| 7 | g.117535528T>A | CA1139532388 | CFTR | c.743+117T>A (n.743+117T>A) c.*640+117T>A (n.*640+117T>A) c.*567+117T>A (n.*567+117T>A) c.500+117T>A (n.500+117T>A) c.653+117T>A (n.653+117T>A) c.833+117T>A (n.833+117T>A) | gnomAD v4 |
| 7 | g.117535529T>A | CA577213780 | CFTR | c.743+118T>A (n.743+118T>A) c.*640+118T>A (n.*640+118T>A) c.*567+118T>A (n.*567+118T>A) c.500+118T>A (n.500+118T>A) c.653+118T>A (n.653+118T>A) c.833+118T>A (n.833+118T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535529T>C | CA2534172567 | CFTR | c.743+118T>C (n.743+118T>C) c.*640+118T>C (n.*640+118T>C) c.*567+118T>C (n.*567+118T>C) c.500+118T>C (n.500+118T>C) c.653+118T>C (n.653+118T>C) c.833+118T>C (n.833+118T>C) | |
| 7 | g.117535529T= | CA1737362266 | CFTR | c.743+118T= (n.743+118T=) c.*640+118T= (n.*640+118T=) c.*567+118T= (n.*567+118T=) c.500+118T= (n.500+118T=) c.653+118T= (n.653+118T=) c.833+118T= (n.833+118T=) | |
| 7 | g.117535530T>A | CA2777587688 | CFTR | c.743+119T>A (n.743+119T>A) c.*640+119T>A (n.*640+119T>A) c.*567+119T>A (n.*567+119T>A) c.500+119T>A (n.500+119T>A) c.653+119T>A (n.653+119T>A) c.833+119T>A (n.833+119T>A) | |
| 7 | g.117535530T>C | CA2684617747 | CFTR | c.743+119T>C (n.743+119T>C) c.*640+119T>C (n.*640+119T>C) c.*567+119T>C (n.*567+119T>C) c.500+119T>C (n.500+119T>C) c.653+119T>C (n.653+119T>C) c.833+119T>C (n.833+119T>C) | dbSNP gnomAD v4 |
| 7 | g.117535531T>A | CA2684617748 | CFTR | c.743+120T>A (n.743+120T>A) c.*640+120T>A (n.*640+120T>A) c.*567+120T>A (n.*567+120T>A) c.500+120T>A (n.500+120T>A) c.653+120T>A (n.653+120T>A) c.833+120T>A (n.833+120T>A) | gnomAD v4 |
| 7 | g.117535531T>C | CA2684617749 | CFTR | c.743+120T>C (n.743+120T>C) c.*640+120T>C (n.*640+120T>C) c.*567+120T>C (n.*567+120T>C) c.500+120T>C (n.500+120T>C) c.653+120T>C (n.653+120T>C) c.833+120T>C (n.833+120T>C) | gnomAD v4 |
| 7 | g.117535531T= | CA1737362267 | CFTR | c.743+120T= (n.743+120T=) c.*640+120T= (n.*640+120T=) c.*567+120T= (n.*567+120T=) c.500+120T= (n.500+120T=) c.653+120T= (n.653+120T=) c.833+120T= (n.833+120T=) |