Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
6 | g.116617539A>C | CA1093542694 | RSPH4A | c.686+230A>C (n.686+230A>C) n.3337+230A>C | gnomAD v3 gnomAD v4 |
6 | g.116617539A>T | CA2772741011 | RSPH4A | c.686+230A>T (n.686+230A>T) n.3337+230A>T | |
6 | g.116617540G>C | CA569689662 | RSPH4A | c.686+231G>C (n.686+231G>C) n.3337+231G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617540G= | CA1657315321 | RSPH4A | c.686+231G= (n.686+231G=) n.3337+231G= | |
6 | g.116617540G>T | CA1093542701 | RSPH4A | c.686+231G>T (n.686+231G>T) n.3337+231G>T | gnomAD v3 gnomAD v4 |
6 | g.116617540_116617543delinsGCTT | CA1657315320 | RSPH4A | c.686+231_686+234delinsGCTT (n.686+231_686+234delinsGCTT) n.3337+231_3337+234delinsGCTT | |
6 | g.116617541C>T | CA1093542702 | RSPH4A | c.686+232C>T (n.686+232C>T) n.3337+232C>T | gnomAD v3 gnomAD v4 |
6 | g.116617544_116617546del | CA1657315323 | RSPH4A | c.686+235_686+237del (n.686+235_686+237del) n.3337+235_3337+237del | dbSNP |
6 | g.116617543_116617544insTTTTTTTTTT | CA1093542706 | RSPH4A | c.686+234_686+235insTTTTTTTTTT (n.686+234_686+235insTTTTTTTTTT) n.3337+234_3337+235insTTTTTTTTTT | gnomAD v3 gnomAD v4 |
6 | g.116617543_116617544delinsTC | CA1657315325 | RSPH4A | c.686+234_686+235delinsTC (n.686+234_686+235delinsTC) n.3337+234_3337+235delinsTC | |
6 | g.116617544del | CA569689664 | RSPH4A | c.686+235del (n.686+235del) n.3337+235del | dbSNP gnomAD v2 |
6 | g.116617544C= | CA1657315327 | RSPH4A | c.686+235C= (n.686+235C=) n.3337+235C= | |
6 | g.116617544C>T | CA145923990 | RSPH4A | c.686+235C>T (n.686+235C>T) n.3337+235C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617547T>G | CA1657315331 | RSPH4A | c.686+238T>G (n.686+238T>G) n.3337+238T>G | dbSNP |
6 | g.116617547T= | CA1657315333 | RSPH4A | c.686+238T= (n.686+238T=) n.3337+238T= | |
6 | g.116617548A>T | CA1093542709 | RSPH4A | c.686+239A>T (n.686+239A>T) n.3337+239A>T | gnomAD v3 gnomAD v4 |
6 | g.116617549_116617552del | CA2772741012 | RSPH4A | c.686+240_686+243del (n.686+240_686+243del) n.3337+240_3337+243del | |
6 | g.116617550A>T | CA1093542710 | RSPH4A | c.686+241A>T (n.686+241A>T) n.3337+241A>T | gnomAD v3 gnomAD v4 |
6 | g.116617551G>A | CA1093542712 | RSPH4A | c.686+242G>A (n.686+242G>A) n.3337+242G>A | gnomAD v3 gnomAD v4 |
6 | g.116617551G>T | CA1093542713 | RSPH4A | c.686+242G>T (n.686+242G>T) n.3337+242G>T | gnomAD v3 gnomAD v4 |
6 | g.116617551_116617552insTTTT | CA2772741013 | RSPH4A | c.686+242_686+243insTTTT (n.686+242_686+243insTTTT) n.3337+242_3337+243insTTTT | |
6 | g.116617552del | CA2501648681 | RSPH4A | c.686+243del (n.686+243del) n.3337+243del | |
6 | g.116617552A>C | CA2535925115 | RSPH4A | c.686+243A>C (n.686+243A>C) n.3337+243A>C | |
6 | g.116617552A>T | CA1093542716 | RSPH4A | c.686+243A>T (n.686+243A>T) n.3337+243A>T | gnomAD v3 gnomAD v4 |
6 | g.116617553C>A | CA145923993 | RSPH4A | c.686+244C>A (n.686+244C>A) n.3337+244C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617553C= | CA1657315336 | RSPH4A | c.686+244C= (n.686+244C=) n.3337+244C= | |
6 | g.116617553C>T | CA145923995 | RSPH4A | c.686+244C>T (n.686+244C>T) n.3337+244C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617554C>A | CA2772741014 | RSPH4A | c.686+245C>A (n.686+245C>A) n.3337+245C>A | |
6 | g.116617554C= | CA1657315340 | RSPH4A | c.686+245C= (n.686+245C=) n.3337+245C= | |
6 | g.116617554C>G | CA1657315342 | RSPH4A | c.686+245C>G (n.686+245C>G) n.3337+245C>G | dbSNP |
6 | g.116617554C>T | CA1093542720 | RSPH4A | c.686+245C>T (n.686+245C>T) n.3337+245C>T | |
6 | g.116617554_116617555insGAATTGCTG | CA2567524082 | RSPH4A | c.686+245_686+246insGAATTGCTG (n.686+245_686+246insGAATTGCTG) n.3337+245_3337+246insGAATTGCTG | |
6 | g.116617555C= | CA1657315343 | RSPH4A | c.686+246C= (n.686+246C=) n.3337+246C= | |
6 | g.116617555C>T | CA817710770 | RSPH4A | c.686+246C>T (n.686+246C>T) n.3337+246C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617556T>G | CA2507336393 | RSPH4A | c.686+247T>G (n.686+247T>G) n.3337+247T>G | |
6 | g.116617557A>T | CA1093542721 | RSPH4A | c.686+248A>T (n.686+248A>T) n.3337+248A>T | gnomAD v3 gnomAD v4 |
6 | g.116617558G>A | CA1093542723 | RSPH4A | c.686+249G>A (n.686+249G>A) n.3337+249G>A | gnomAD v3 gnomAD v4 |
6 | g.116617558G>T | CA1093542724 | RSPH4A | c.686+249G>T (n.686+249G>T) n.3337+249G>T | gnomAD v3 gnomAD v4 |
6 | g.116617559G>A | CA1657315345 | RSPH4A | c.686+250G>A (n.686+250G>A) n.3337+250G>A | dbSNP |
6 | g.116617559G= | CA1657315346 | RSPH4A | c.686+250G= (n.686+250G=) n.3337+250G= | |
6 | g.116617560C>A | CA1093542726 | RSPH4A | c.686+251C>A (n.686+251C>A) n.3337+251C>A | gnomAD v3 gnomAD v4 |
6 | g.116617560C>T | CA1093542729 | RSPH4A | c.686+251C>T (n.686+251C>T) n.3337+251C>T | |
6 | g.116617561A= | CA1657315350 | RSPH4A | c.686+252A= (n.686+252A=) n.3337+252A= | |
6 | g.116617561A>C | CA1093542733 | RSPH4A | c.686+252A>C (n.686+252A>C) n.3337+252A>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617561A>T | CA1093542744 | RSPH4A | c.686+252A>T (n.686+252A>T) n.3337+252A>T | |
6 | g.116617564C>A | CA1093542749 | RSPH4A | c.686+255C>A (n.686+255C>A) n.3337+255C>A | gnomAD v3 gnomAD v4 |
6 | g.116617566A>T | CA2772741015 | RSPH4A | c.686+257A>T (n.686+257A>T) n.3337+257A>T | |
6 | g.116617567C>A | CA1093542751 | RSPH4A | c.686+258C>A (n.686+258C>A) n.3337+258C>A | gnomAD v3 gnomAD v4 |
6 | g.116617567C= | CA1657315353 | RSPH4A | c.686+258C= (n.686+258C=) n.3337+258C= | |
6 | g.116617567C>T | CA817710771 | RSPH4A | c.686+258C>T (n.686+258C>T) n.3337+258C>T | dbSNP |
6 | g.116617570A= | CA1657315356 | RSPH4A | c.686+261A= (n.686+261A=) n.3337+261A= | |
6 | g.116617570A>G | CA1657315357 | RSPH4A | c.686+261A>G (n.686+261A>G) n.3337+261A>G | dbSNP |
6 | g.116617571A= | CA1657315358 | RSPH4A | c.686+262A= (n.686+262A=) n.3337+262A= | |
6 | g.116617571A>G | CA1657315359 | RSPH4A | c.686+262A>G (n.686+262A>G) n.3337+262A>G | dbSNP |
6 | g.116617576A= | CA1657315361 | RSPH4A | c.686+267A= (n.686+267A=) n.3337+267A= | |
6 | g.116617576A>G | CA569689667 | RSPH4A | c.686+267A>G (n.686+267A>G) n.3337+267A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617579T>C | CA145923998 | RSPH4A | c.686+270T>C (n.686+270T>C) n.3337+270T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617579T= | CA1657315363 | RSPH4A | c.686+270T= (n.686+270T=) n.3337+270T= | |
6 | g.116617581G>A | CA145924001 | RSPH4A | c.686+272G>A (n.686+272G>A) n.3337+272G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617581G= | CA1657315365 | RSPH4A | c.686+272G= (n.686+272G=) n.3337+272G= | |
6 | g.116617586_116617593del | CA2772741016 | RSPH4A | c.686+277_686+284del (n.686+277_686+284del) n.3337+277_3337+284del | |
6 | g.116617588T>C | CA817710777 | RSPH4A | c.686+279T>C (n.686+279T>C) n.3337+279T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617588T= | CA1657315367 | RSPH4A | c.686+279T= (n.686+279T=) n.3337+279T= | |
6 | g.116617590G>T | CA2772741017 | RSPH4A | c.686+281G>T (n.686+281G>T) n.3337+281G>T | |
6 | g.116617593T>C | CA145924004 | RSPH4A | c.686+284T>C (n.686+284T>C) n.3337+284T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617593T= | CA1657315369 | RSPH4A | c.686+284T= (n.686+284T=) n.3337+284T= | |
6 | g.116617595T>G | CA145924008 | RSPH4A | c.686+286T>G (n.686+286T>G) n.3337+286T>G | dbSNP |
6 | g.116617595T= | CA1657315372 | RSPH4A | c.686+286T= (n.686+286T=) n.3337+286T= | |
6 | g.116617596C= | CA1657315374 | RSPH4A | c.686+287C= (n.686+287C=) n.3337+287C= | |
6 | g.116617596C>T | CA145924023 | RSPH4A | c.686+287C>T (n.686+287C>T) n.3337+287C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617597G>A | CA1657315378 | RSPH4A | c.686+288G>A (n.686+288G>A) n.3337+288G>A | dbSNP |
6 | g.116617597G= | CA1657315377 | RSPH4A | c.686+288G= (n.686+288G=) n.3337+288G= | |
6 | g.116617599del | CA2713050400 | RSPH4A | c.686+290del (n.686+290del) n.3337+290del | dbSNP |
6 | g.116617601T>C | CA817710783 | RSPH4A | c.686+292T>C (n.686+292T>C) n.3337+292T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617601T= | CA1657315380 | RSPH4A | c.686+292T= (n.686+292T=) n.3337+292T= | |
6 | g.116617602T>G | CA145924028 | RSPH4A | c.686+293T>G (n.686+293T>G) n.3337+293T>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617602T= | CA1657315382 | RSPH4A | c.686+293T= (n.686+293T=) n.3337+293T= | |
6 | g.116617605_116617614delinsAAAAGACCAT | CA1657315384 | RSPH4A | c.686+296_686+305delinsAAAAGACCAT (n.686+296_686+305delinsAAAAGACCAT) n.3337+296_3337+305delinsAAAAGACCAT | |
6 | g.116617606A= | CA1657315387 | RSPH4A | c.686+297A= (n.686+297A=) n.3337+297A= | |
6 | g.116617606A>G | CA145924030 | RSPH4A | c.686+297A>G (n.686+297A>G) n.3337+297A>G | dbSNP |
6 | g.116617619_116617627del | CA1093542758 | RSPH4A | c.686+310_686+318del (n.686+310_686+318del) n.3337+310_3337+318del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617611C>A | CA1093542759 | RSPH4A | c.686+302C>A (n.686+302C>A) n.3337+302C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617611C= | CA1657315390 | RSPH4A | c.686+302C= (n.686+302C=) n.3337+302C= | |
6 | g.116617613A= | CA1657315392 | RSPH4A | c.686+304A= (n.686+304A=) n.3337+304A= | |
6 | g.116617613A>G | CA1657315393 | RSPH4A | c.686+304A>G (n.686+304A>G) n.3337+304A>G | dbSNP |
6 | g.116617613A>T | CA1657315394 | RSPH4A | c.686+304A>T (n.686+304A>T) n.3337+304A>T | dbSNP |
6 | g.116617615A= | CA1657315396 | RSPH4A | c.686+306A= (n.686+306A=) n.3337+306A= | |
6 | g.116617615A>G | CA817710787 | RSPH4A | c.686+306A>G (n.686+306A>G) n.3337+306A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617618G>C | CA569689669 | RSPH4A | c.686+309G>C (n.686+309G>C) n.3337+309G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617618G= | CA1657315398 | RSPH4A | c.686+309G= (n.686+309G=) n.3337+309G= | |
6 | g.116617618G>T | CA1093542763 | RSPH4A | c.686+309G>T (n.686+309G>T) n.3337+309G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617619A= | CA1657315399 | RSPH4A | c.686+310A= (n.686+310A=) n.3337+310A= | |
6 | g.116617619A>G | CA817710795 | RSPH4A | c.686+310A>G (n.686+310A>G) n.3337+310A>G | dbSNP |
6 | g.116617620C= | CA1657315402 | RSPH4A | c.686+311C= (n.686+311C=) n.3337+311C= | |
6 | g.116617620C>T | CA817710798 | RSPH4A | c.686+311C>T (n.686+311C>T) n.3337+311C>T | dbSNP |
6 | g.116617622A= | CA1657315404 | RSPH4A | c.686+313A= (n.686+313A=) n.3337+313A= | |
6 | g.116617622A>G | CA817710802 | RSPH4A | c.686+313A>G (n.686+313A>G) n.3337+313A>G | dbSNP |
6 | g.116617624A>G | CA2713050407 | RSPH4A | c.686+315A>G (n.686+315A>G) n.3337+315A>G | dbSNP |
6 | g.116617625A= | CA1657315406 | RSPH4A | c.686+316A= (n.686+316A=) n.3337+316A= | |
6 | g.116617625A>C | CA817710806 | RSPH4A | c.686+316A>C (n.686+316A>C) n.3337+316A>C | dbSNP |