| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.116617438T>A | CA2680117758 | RSPH4A | c.686+129T>A (n.686+129T>A) n.3337+129T>A | gnomAD v4 |
| 6 | g.116617438T>C | CA2680117759 | RSPH4A | c.686+129T>C (n.686+129T>C) n.3337+129T>C | gnomAD v4 |
| 6 | g.116617439A>C | CA2680117761 | RSPH4A | c.686+130A>C (n.686+130A>C) n.3337+130A>C | gnomAD v4 |
| 6 | g.116617440del | CA2680117760 | RSPH4A | c.686+131del (n.686+131del) n.3337+131del | gnomAD v4 |
| 6 | g.116617440A= | CA1657315204 | RSPH4A | c.686+131A= (n.686+131A=) n.3337+131A= | |
| 6 | g.116617440A>C | CA2680117762 | RSPH4A | c.686+131A>C (n.686+131A>C) n.3337+131A>C | gnomAD v4 |
| 6 | g.116617440A>G | CA1093542588 | RSPH4A | c.686+131A>G (n.686+131A>G) n.3337+131A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617441T>C | CA2680117763 | RSPH4A | c.686+132T>C (n.686+132T>C) n.3337+132T>C | gnomAD v4 |
| 6 | g.116617442G>T | CA2680117764 | RSPH4A | c.686+133G>T (n.686+133G>T) n.3337+133G>T | gnomAD v4 |
| 6 | g.116617443A= | CA1657315206 | RSPH4A | c.686+134A= (n.686+134A=) n.3337+134A= | |
| 6 | g.116617443A>T | CA1657315207 | RSPH4A | c.686+134A>T (n.686+134A>T) n.3337+134A>T | dbSNP gnomAD v4 |
| 6 | g.116617444C>A | CA2680117765 | RSPH4A | c.686+135C>A (n.686+135C>A) n.3337+135C>A | gnomAD v4 |
| 6 | g.116617444C= | CA1657315208 | RSPH4A | c.686+135C= (n.686+135C=) n.3337+135C= | |
| 6 | g.116617444C>T | CA1093542590 | RSPH4A | c.686+135C>T (n.686+135C>T) n.3337+135C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617445A= | CA1657315211 | RSPH4A | c.686+136A= (n.686+136A=) n.3337+136A= | |
| 6 | g.116617445A>G | CA145923960 | RSPH4A | c.686+136A>G (n.686+136A>G) n.3337+136A>G | dbSNP gnomAD v4 |
| 6 | g.116617446_116617447del | CA2680117766 | RSPH4A | c.686+137_686+138del (n.686+137_686+138del) n.3337+137_3337+138del | gnomAD v4 |
| 6 | g.116617447A>G | CA2680117768 | RSPH4A | c.686+138A>G (n.686+138A>G) n.3337+138A>G | gnomAD v4 |
| 6 | g.116617447A>T | CA2680117767 | RSPH4A | c.686+138A>T (n.686+138A>T) n.3337+138A>T | gnomAD v4 |
| 6 | g.116617448A>C | CA2680117769 | RSPH4A | c.686+139A>C (n.686+139A>C) n.3337+139A>C | gnomAD v4 |
| 6 | g.116617448_116617450delinsACT | CA1657315213 | RSPH4A | c.686+139_686+141delinsACT (n.686+139_686+141delinsACT) n.3337+139_3337+141delinsACT | |
| 6 | g.116617449del | CA2680117770 | RSPH4A | c.686+140del (n.686+140del) n.3337+140del | gnomAD v4 |
| 6 | g.116617449C= | CA1657315215 | RSPH4A | c.686+140C= (n.686+140C=) n.3337+140C= | |
| 6 | g.116617449C>G | CA1657315218 | RSPH4A | c.686+140C>G (n.686+140C>G) n.3337+140C>G | dbSNP |
| 6 | g.116617449C>T | CA2680117771 | RSPH4A | c.686+140C>T (n.686+140C>T) n.3337+140C>T | gnomAD v4 |
| 6 | g.116617451_116617452del | CA1657315214 | RSPH4A | c.686+142_686+143del (n.686+142_686+143del) n.3337+142_3337+143del | dbSNP gnomAD v4 |
| 6 | g.116617454G= | CA1657315220 | RSPH4A | c.686+145G= (n.686+145G=) n.3337+145G= | |
| 6 | g.116617454G>T | CA1093542591 | RSPH4A | c.686+145G>T (n.686+145G>T) n.3337+145G>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617457C>A | CA2680117772 | RSPH4A | c.686+148C>A (n.686+148C>A) n.3337+148C>A | gnomAD v4 |
| 6 | g.116617457C>T | CA2680117773 | RSPH4A | c.686+148C>T (n.686+148C>T) n.3337+148C>T | gnomAD v4 |
| 6 | g.116617459C>A | CA2680117774 | RSPH4A | c.686+150C>A (n.686+150C>A) n.3337+150C>A | gnomAD v4 |
| 6 | g.116617459C>T | CA2680117775 | RSPH4A | c.686+150C>T (n.686+150C>T) n.3337+150C>T | gnomAD v4 |
| 6 | g.116617460A= | CA1657315222 | RSPH4A | c.686+151A= (n.686+151A=) n.3337+151A= | |
| 6 | g.116617460A>G | CA1657315223 | RSPH4A | c.686+151A>G (n.686+151A>G) n.3337+151A>G | dbSNP gnomAD v4 |
| 6 | g.116617461T>C | CA2680117776 | RSPH4A | c.686+152T>C (n.686+152T>C) n.3337+152T>C | gnomAD v4 |
| 6 | g.116617462G>T | CA2740780476 | RSPH4A | c.686+153G>T (n.686+153G>T) n.3337+153G>T | |
| 6 | g.116617466C= | CA1657315225 | RSPH4A | c.686+157C= (n.686+157C=) n.3337+157C= | |
| 6 | g.116617466C>T | CA1093542593 | RSPH4A | c.686+157C>T (n.686+157C>T) n.3337+157C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617467A= | CA1657315227 | RSPH4A | c.686+158A= (n.686+158A=) n.3337+158A= | |
| 6 | g.116617467A>G | CA1657315228 | RSPH4A | c.686+158A>G (n.686+158A>G) n.3337+158A>G | dbSNP |
| 6 | g.116617471C= | CA1657315230 | RSPH4A | c.686+162C= (n.686+162C=) n.3337+162C= | |
| 6 | g.116617471C>G | CA1657315231 | RSPH4A | c.686+162C>G (n.686+162C>G) n.3337+162C>G | dbSNP |
| 6 | g.116617475T>C | CA145923962 | RSPH4A | c.686+166T>C (n.686+166T>C) n.3337+166T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617475T= | CA1657315233 | RSPH4A | c.686+166T= (n.686+166T=) n.3337+166T= | |
| 6 | g.116617476C= | CA1657315237 | RSPH4A | c.686+167C= (n.686+167C=) n.3337+167C= | |
| 6 | g.116617476C>G | CA915360739 | RSPH4A | c.686+167C>G (n.686+167C>G) n.3337+167C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617478_116617480dup | CA569689623 | RSPH4A | c.686+169_686+171dup (n.686+169_686+171dup) n.3337+169_3337+171dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617486G>C | CA1093542596 | RSPH4A | c.686+177G>C (n.686+177G>C) n.3337+177G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617486G= | CA1657315240 | RSPH4A | c.686+177G= (n.686+177G=) n.3337+177G= | |
| 6 | g.116617486G>T | CA2603208269 | RSPH4A | c.686+177G>T (n.686+177G>T) n.3337+177G>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617487A= | CA1657315242 | RSPH4A | c.686+178A= (n.686+178A=) n.3337+178A= | |
| 6 | g.116617487A>T | CA1657315244 | RSPH4A | c.686+178A>T (n.686+178A>T) n.3337+178A>T | dbSNP |
| 6 | g.116617488T>C | CA1657315246 | RSPH4A | c.686+179T>C (n.686+179T>C) n.3337+179T>C | dbSNP |
| 6 | g.116617488T= | CA1657315245 | RSPH4A | c.686+179T= (n.686+179T=) n.3337+179T= | |
| 6 | g.116617490C= | CA1657315248 | RSPH4A | c.686+181C= (n.686+181C=) n.3337+181C= | |
| 6 | g.116617490C>T | CA145923965 | RSPH4A | c.686+181C>T (n.686+181C>T) n.3337+181C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617493G= | CA1657315251 | RSPH4A | c.686+184G= (n.686+184G=) n.3337+184G= | |
| 6 | g.116617493G>T | CA569689624 | RSPH4A | c.686+184G>T (n.686+184G>T) n.3337+184G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617501T>C | CA817710650 | RSPH4A | c.686+192T>C (n.686+192T>C) n.3337+192T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617501T= | CA1657315253 | RSPH4A | c.686+192T= (n.686+192T=) n.3337+192T= | |
| 6 | g.116617503T>A | CA145923967 | RSPH4A | c.686+194T>A (n.686+194T>A) n.3337+194T>A | dbSNP |
| 6 | g.116617503T= | CA1657315255 | RSPH4A | c.686+194T= (n.686+194T=) n.3337+194T= | |
| 6 | g.116617504T>A | CA817710657 | RSPH4A | c.686+195T>A (n.686+195T>A) n.3337+195T>A | dbSNP |
| 6 | g.116617504T>G | CA1093542606 | RSPH4A | c.686+195T>G (n.686+195T>G) n.3337+195T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617504T= | CA1657315258 | RSPH4A | c.686+195T= (n.686+195T=) n.3337+195T= | |
| 6 | g.116617506C>A | CA2603208270 | RSPH4A | c.686+197C>A (n.686+197C>A) n.3337+197C>A | gnomAD v3 gnomAD v4 |
| 6 | g.116617508T>G | CA2603208271 | RSPH4A | c.686+199T>G (n.686+199T>G) n.3337+199T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617510A>C | CA1093542609 | RSPH4A | c.686+201A>C (n.686+201A>C) n.3337+201A>C | gnomAD v3 gnomAD v4 |
| 6 | g.116617510_116617511delinsAC | CA1657315259 | RSPH4A | c.686+201_686+202delinsAC (n.686+201_686+202delinsAC) n.3337+201_3337+202delinsAC | |
| 6 | g.116617511C= | CA1657315262 | RSPH4A | c.686+202C= (n.686+202C=) n.3337+202C= | |
| 6 | g.116617512del | CA1093542614 | RSPH4A | c.686+203del (n.686+203del) n.3337+203del | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617511_116617512insG | CA569689626 | RSPH4A | c.686+202_686+203insG (n.686+202_686+203insG) n.3337+202_3337+203insG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617511_116617512insT | CA569689628 | RSPH4A | c.686+202_686+203insT (n.686+202_686+203insT) n.3337+202_3337+203insT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617512C= | CA1657315271 | RSPH4A | c.686+203C= (n.686+203C=) n.3337+203C= | |
| 6 | g.116617512C>G | CA145923970 | RSPH4A | c.686+203C>G (n.686+203C>G) n.3337+203C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617512C>T | CA145923973 | RSPH4A | c.686+203C>T (n.686+203C>T) n.3337+203C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617512_116617515delinsCTTT | CA1657315268 | RSPH4A | c.686+203_686+206delinsCTTT (n.686+203_686+206delinsCTTT) n.3337+203_3337+206delinsCTTT | |
| 6 | g.116617512_116617513insAT | CA2772741010 | RSPH4A | c.686+203_686+204insAT (n.686+203_686+204insAT) n.3337+203_3337+204insAT | |
| 6 | g.116617513T>C | CA1657315285 | RSPH4A | c.686+204T>C (n.686+204T>C) n.3337+204T>C | dbSNP |
| 6 | g.116617513T= | CA1657315283 | RSPH4A | c.686+204T= (n.686+204T=) n.3337+204T= | |
| 6 | g.116617525dup | CA145923978 | RSPH4A | c.686+216dup (n.686+216dup) n.3337+216dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617524_116617525dup | CA145923982 | RSPH4A | c.686+215_686+216dup (n.686+215_686+216dup) n.3337+215_3337+216dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617523_116617525dup | CA569689632 | RSPH4A | c.686+214_686+216dup (n.686+214_686+216dup) n.3337+214_3337+216dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617517_116617525dup | CA917842265 | RSPH4A | c.686+208_686+216dup (n.686+208_686+216dup) n.3337+208_3337+216dup | dbSNP |
| 6 | g.116617525del | CA569689630 | RSPH4A | c.686+216del (n.686+216del) n.3337+216del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617524_116617525del | CA569689629 | RSPH4A | c.686+215_686+216del (n.686+215_686+216del) n.3337+215_3337+216del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617523_116617525del | CA145923980 | RSPH4A | c.686+214_686+216del (n.686+214_686+216del) n.3337+214_3337+216del | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617514T>A | CA817710707 | RSPH4A | c.686+205T>A (n.686+205T>A) n.3337+205T>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617514T= | CA1657315295 | RSPH4A | c.686+205T= (n.686+205T=) n.3337+205T= | |
| 6 | g.116617525T>G | CA1093542638 | RSPH4A | c.686+216T>G (n.686+216T>G) n.3337+216T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617525T= | CA1657315298 | RSPH4A | c.686+216T= (n.686+216T=) n.3337+216T= | |
| 6 | g.116617525_116617529delinsTGTCC | CA1657315297 | RSPH4A | c.686+216_686+220delinsTGTCC (n.686+216_686+220delinsTGTCC) n.3337+216_3337+220delinsTGTCC | |
| 6 | g.116617526del | CA1093542651 | RSPH4A | c.686+217del (n.686+217del) n.3337+217del | gnomAD v3 gnomAD v4 |
| 6 | g.116617526G= | CA1657315300 | RSPH4A | c.686+217G= (n.686+217G=) n.3337+217G= | |
| 6 | g.116617526G>T | CA145923985 | RSPH4A | c.686+217G>T (n.686+217G>T) n.3337+217G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.116617526_116617529del | CA569689633 | RSPH4A | c.686+217_686+220del (n.686+217_686+220del) n.3337+217_3337+220del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617527T>G | CA2603208272 | RSPH4A | c.686+218T>G (n.686+218T>G) n.3337+218T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617527_116617529delinsTCC | CA1657315302 | RSPH4A | c.686+218_686+220delinsTCC (n.686+218_686+220delinsTCC) n.3337+218_3337+220delinsTCC | |
| 6 | g.116617528C= | CA1657315305 | RSPH4A | c.686+219C= (n.686+219C=) n.3337+219C= | |
| 6 | g.116617528C>T | CA569689635 | RSPH4A | c.686+219C>T (n.686+219C>T) n.3337+219C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617528_116617529del | CA569689636 | RSPH4A | c.686+219_686+220del (n.686+219_686+220del) n.3337+219_3337+220del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617529C>T | CA569689639 | RSPH4A | c.686+220C>T (n.686+220C>T) n.3337+220C>T | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617533_116617534insTTTTTT | CA1093542676 | RSPH4A | c.686+224_686+225insTTTTTT (n.686+224_686+225insTTTTTT) n.3337+224_3337+225insTTTTTT | gnomAD v3 gnomAD v4 |
| 6 | g.116617533_116617534insTTTTTTTT | CA2603208275 | RSPH4A | c.686+224_686+225insTTTTTTTT (n.686+224_686+225insTTTTTTTT) n.3337+224_3337+225insTTTTTTTT | gnomAD v3 gnomAD v4 |
| 6 | g.116617533_116617534insTTTTTTTTTTTTTTT | CA1093542671 | RSPH4A | c.686+224_686+225insTTTTTTTTTTTTTTT (n.686+224_686+225insTTTTTTTTTTTTTTT) n.3337+224_3337+225insTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
| 6 | g.116617533_116617534insTTTTTTTTTTTTTTTT | CA569689642 | RSPH4A | c.686+224_686+225insTTTTTTTTTTTTTTTT (n.686+224_686+225insTTTTTTTTTTTTTTTT) n.3337+224_3337+225insTTTTTTTTTTTTTTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617533_116617534insTTTTTTTTTTTTTTTTT | CA1093542668 | RSPH4A | c.686+224_686+225insTTTTTTTTTTTTTTTTT (n.686+224_686+225insTTTTTTTTTTTTTTTTT) n.3337+224_3337+225insTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
| 6 | g.116617533_116617534insTTTTTTTTTTTTTTTTTT | CA569689643 | RSPH4A | c.686+224_686+225insTTTTTTTTTTTTTTTTTT (n.686+224_686+225insTTTTTTTTTTTTTTTTTT) n.3337+224_3337+225insTTTTTTTTTTTTTTTTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617533_116617534insTTTTTTTTTTTTTTTTTTT | CA569689644 | RSPH4A | c.686+224_686+225insTTTTTTTTTTTTTTTTTTT (n.686+224_686+225insTTTTTTTTTTTTTTTTTTT) n.3337+224_3337+225insTTTTTTTTTTTTTTTTTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617531_116617533dup | CA569689641 | RSPH4A | c.686+222_686+224dup (n.686+222_686+224dup) n.3337+222_3337+224dup | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617530_116617533dup | CA1093542678 | RSPH4A | c.686+221_686+224dup (n.686+221_686+224dup) n.3337+221_3337+224dup | gnomAD v3 gnomAD v4 |
| 6 | g.116617533del | CA2526721992 | RSPH4A | c.686+224del (n.686+224del) n.3337+224del | |
| 6 | g.116617531T>C | CA2603208276 | RSPH4A | c.686+222T>C (n.686+222T>C) n.3337+222T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116617533_116617541delinsTCCTCCAGC | CA1657315307 | RSPH4A | c.686+224_686+232delinsTCCTCCAGC (n.686+224_686+232delinsTCCTCCAGC) n.3337+224_3337+232delinsTCCTCCAGC | |
| 6 | g.116617534C= | CA1657315311 | RSPH4A | c.686+225C= (n.686+225C=) n.3337+225C= | |
| 6 | g.116617534C>T | CA569689648 | RSPH4A | c.686+225C>T (n.686+225C>T) n.3337+225C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617534_116617535del | CA569689647 | RSPH4A | c.686+225_686+226del (n.686+225_686+226del) n.3337+225_3337+226del | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617534_116617541del | CA569689646 | RSPH4A | c.686+225_686+232del (n.686+225_686+232del) n.3337+225_3337+232del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617535C>T | CA569689649 | RSPH4A | c.686+226C>T (n.686+226C>T) n.3337+226C>T | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617536_116617537insTTTTT | CA569689651 | RSPH4A | c.686+227_686+228insTTTTT (n.686+227_686+228insTTTTT) n.3337+227_3337+228insTTTTT | gnomAD v2 |
| 6 | g.116617536_116617537insTTTTTT | CA2603208277 | RSPH4A | c.686+227_686+228insTTTTTT (n.686+227_686+228insTTTTTT) n.3337+227_3337+228insTTTTTT | gnomAD v3 gnomAD v4 |
| 6 | g.116617536_116617541delinsTCCAGC | CA1657315313 | RSPH4A | c.686+227_686+232delinsTCCAGC (n.686+227_686+232delinsTCCAGC) n.3337+227_3337+232delinsTCCAGC | |
| 6 | g.116617537C>T | CA569689654 | RSPH4A | c.686+228C>T (n.686+228C>T) n.3337+228C>T | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617537_116617539del | CA1093542689 | RSPH4A | c.686+228_686+230del (n.686+228_686+230del) n.3337+228_3337+230del | gnomAD v3 gnomAD v4 |
| 6 | g.116617537_116617541del | CA569689653 | RSPH4A | c.686+228_686+232del (n.686+228_686+232del) n.3337+228_3337+232del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116617538_116617541del | CA1093542686 | RSPH4A | c.686+229_686+232del (n.686+229_686+232del) n.3337+229_3337+232del | gnomAD v3 gnomAD v4 |
| 6 | g.116617538C= | CA1657315317 | RSPH4A | c.686+229C= (n.686+229C=) n.3337+229C= | |
| 6 | g.116617538C>T | CA16277464 | RSPH4A | c.686+229C>T (n.686+229C>T) n.3337+229C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |