Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.694573_694574insAAAAAAAAAAAAA | CA631000294 | PRSS57 | c.233+252_233+253insTTTTTTTTTTTTT (n.233+252_233+253insTTTTTTTTTTTTT) c.236+252_236+253insTTTTTTTTTTTTT (n.236+252_236+253insTTTTTTTTTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694573_694574insAAAAAAAAAAAAAA | CA631000293 | PRSS57 | c.233+252_233+253insTTTTTTTTTTTTTT (n.233+252_233+253insTTTTTTTTTTTTTT) c.236+252_236+253insTTTTTTTTTTTTTT (n.236+252_236+253insTTTTTTTTTTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694573_694574insAAAAAAAAAAAAAAA | CA992435288 | PRSS57 | c.233+252_233+253insTTTTTTTTTTTTTTT (n.233+252_233+253insTTTTTTTTTTTTTTT) c.236+252_236+253insTTTTTTTTTTTTTTT (n.236+252_236+253insTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694573_694574insAAAAAAAAAAAAAAAAAAAAAAAA | CA992435284 | PRSS57 | c.233+252_233+253insTTTTTTTTTTTTTTTTTTTTTTTT (n.233+252_233+253insTTTTTTTTTTTTTTTTTTTTTTTT) c.236+252_236+253insTTTTTTTTTTTTTTTTTTTTTTTT (n.236+252_236+253insTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
19 | g.694573_694574insAAAAAAAAAAAAAAAAAAAAAAAAA | CA992435281 | PRSS57 | c.233+252_233+253insTTTTTTTTTTTTTTTTTTTTTTTTT (n.233+252_233+253insTTTTTTTTTTTTTTTTTTTTTTTTT) c.236+252_236+253insTTTTTTTTTTTTTTTTTTTTTTTTT (n.236+252_236+253insTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694573dup | CA631000291 | PRSS57 | c.233+252dup (n.233+252dup) c.236+252dup (n.236+252dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694572_694573dup | CA992435297 | PRSS57 | c.233+251_233+252dup (n.233+251_233+252dup) c.236+251_236+252dup (n.236+251_236+252dup) | gnomAD v3 gnomAD v4 |
19 | g.694571_694573dup | CA2519156376 | PRSS57 | c.233+250_233+252dup (n.233+250_233+252dup) c.236+250_236+252dup (n.236+250_236+252dup) | |
19 | g.694570_694573dup | CA992435305 | PRSS57 | c.233+249_233+252dup (n.233+249_233+252dup) c.236+249_236+252dup (n.236+249_236+252dup) | gnomAD v3 gnomAD v4 |
19 | g.694569_694573dup | CA992435306 | PRSS57 | c.233+248_233+252dup (n.233+248_233+252dup) c.236+248_236+252dup (n.236+248_236+252dup) | gnomAD v3 gnomAD v4 |
19 | g.694568_694573dup | CA992435309 | PRSS57 | c.233+247_233+252dup (n.233+247_233+252dup) c.236+247_236+252dup (n.236+247_236+252dup) | gnomAD v3 gnomAD v4 |
19 | g.694567_694573dup | CA992435307 | PRSS57 | c.233+246_233+252dup (n.233+246_233+252dup) c.236+246_236+252dup (n.236+246_236+252dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694566_694573dup | CA992435308 | PRSS57 | c.233+245_233+252dup (n.233+245_233+252dup) c.236+245_236+252dup (n.236+245_236+252dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694565_694573dup | CA303953027 | PRSS57 | c.233+244_233+252dup (n.233+244_233+252dup) c.236+244_236+252dup (n.236+244_236+252dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694564_694573dup | CA992435295 | PRSS57 | c.233+243_233+252dup (n.233+243_233+252dup) c.236+243_236+252dup (n.236+243_236+252dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694563_694573dup | CA631000297 | PRSS57 | c.233+242_233+252dup (n.233+242_233+252dup) c.236+242_236+252dup (n.236+242_236+252dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694562_694573dup | CA631000296 | PRSS57 | c.233+241_233+252dup (n.233+241_233+252dup) c.236+241_236+252dup (n.236+241_236+252dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694573del | CA631000299 | PRSS57 | c.233+252del (n.233+252del) c.236+252del (n.236+252del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694572_694573del | CA884127410 | PRSS57 | c.233+251_233+252del (n.233+251_233+252del) c.236+251_236+252del (n.236+251_236+252del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694571_694573del | CA992435254 | PRSS57 | c.233+250_233+252del (n.233+250_233+252del) c.236+250_236+252del (n.236+250_236+252del) | gnomAD v3 gnomAD v4 |
19 | g.694571A= | CA2317263378 | PRSS57 | c.233+243T= (n.233+243T=) c.236+243T= (n.236+243T=) | |
19 | g.694571A>T | CA2317263379 | PRSS57 | c.233+243T>A (n.233+243T>A) c.236+243T>A (n.236+243T>A) | dbSNP |
19 | g.694572A= | CA2317263380 | PRSS57 | c.233+242T= (n.233+242T=) c.236+242T= (n.236+242T=) | |
19 | g.694572A>C | CA2582304611 | PRSS57 | c.233+242T>G (n.233+242T>G) c.236+242T>G (n.236+242T>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694572A>G | CA2813227824 | PRSS57 | c.233+242T>C (n.233+242T>C) c.236+242T>C (n.236+242T>C) | |
19 | g.694573_694574insAAAAAAAAATAA | CA884127424 | PRSS57 | c.233+242_233+243insATTTTTTTTTTT (n.233+242_233+243insATTTTTTTTTTT) c.236+242_236+243insATTTTTTTTTTT (n.236+242_236+243insATTTTTTTTTTT) | dbSNP |
19 | g.694573_694574insAAAAAAAAACA | CA631000303 | PRSS57 | c.233+241_233+242insGTTTTTTTTTT (n.233+241_233+242insGTTTTTTTTTT) c.236+241_236+242insGTTTTTTTTTT (n.236+241_236+242insGTTTTTTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694573_694574delinsAG | CA2317263381 | PRSS57 | c.233+240_233+241delinsCT (n.233+240_233+241delinsCT) c.236+240_236+241delinsCT (n.236+240_236+241delinsCT) | |
19 | g.694573_694574insAAAAAAAAAAAG | CA631000307 | PRSS57 | c.233+240_233+241insCTTTTTTTTTTT (n.233+240_233+241insCTTTTTTTTTTT) c.236+240_236+241insCTTTTTTTTTTT (n.236+240_236+241insCTTTTTTTTTTT) | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694573_694574insAAAAAAAAAAAAG | CA631000305 | PRSS57 | c.233+240_233+241insCTTTTTTTTTTTT (n.233+240_233+241insCTTTTTTTTTTTT) c.236+240_236+241insCTTTTTTTTTTTT (n.236+240_236+241insCTTTTTTTTTTTT) | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694573_694574insAAAAAAAAAAAAAG | CA992435317 | PRSS57 | c.233+240_233+241insCTTTTTTTTTTTTT (n.233+240_233+241insCTTTTTTTTTTTTT) c.236+240_236+241insCTTTTTTTTTTTTT (n.236+240_236+241insCTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
19 | g.694574del | CA2317263382 | PRSS57 | c.233+240del (n.233+240del) c.236+240del (n.236+240del) | dbSNP |
19 | g.694574G>A | CA631000306 | PRSS57 | c.233+240C>T (n.233+240C>T) c.236+240C>T (n.236+240C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694574G= | CA2317263383 | PRSS57 | c.233+240C= (n.233+240C=) c.236+240C= (n.236+240C=) | |
19 | g.694574_694575delinsGA | CA2317263384 | PRSS57 | c.233+239_233+240delinsTC (n.233+239_233+240delinsTC) c.236+239_236+240delinsTC (n.236+239_236+240delinsTC) | |
19 | g.694575A= | CA2317263385 | PRSS57 | c.233+239T= (n.233+239T=) c.236+239T= (n.236+239T=) | |
19 | g.694575A>G | CA303953029 | PRSS57 | c.233+239T>C (n.233+239T>C) c.236+239T>C (n.236+239T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694575A>T | CA2317263386 | PRSS57 | c.233+239T>A (n.233+239T>A) c.236+239T>A (n.236+239T>A) | dbSNP |
19 | g.694576del | CA884127432 | PRSS57 | c.233+239del (n.233+239del) c.236+239del (n.236+239del) | dbSNP |
19 | g.694575_694576insC | CA631000310 | PRSS57 | c.233+238_233+239insG (n.233+238_233+239insG) c.236+238_236+239insG (n.236+238_236+239insG) | gnomAD v2 |
19 | g.694576_694577insGGA | CA992435320 | PRSS57 | c.233+238_233+239insCCT (n.233+238_233+239insCCT) c.236+238_236+239insCCT (n.236+238_236+239insCCT) | dbSNP |
19 | g.694576_694577insAAAAAGGA | CA2735390326 | PRSS57 | c.233+238_233+239insCCTTTTTT (n.233+238_233+239insCCTTTTTT) c.236+238_236+239insCCTTTTTT (n.236+238_236+239insCCTTTTTT) | dbSNP |
19 | g.694576_694577insAAAAAAAATGA | CA2813227825 | PRSS57 | c.233+238_233+239insCATTTTTTTTT (n.233+238_233+239insCATTTTTTTTT) c.236+238_236+239insCATTTTTTTTT (n.236+238_236+239insCATTTTTTTTT) | |
19 | g.694576_694577insAAAAAAAAAAGA | CA2317263387 | PRSS57 | c.233+238_233+239insCTTTTTTTTTTT (n.233+238_233+239insCTTTTTTTTTTT) c.236+238_236+239insCTTTTTTTTTTT (n.236+238_236+239insCTTTTTTTTTTT) | dbSNP |
19 | g.694576_694577insAAAAAAAAAGGT | CA2735458057 | PRSS57 | c.233+237_233+238insACCTTTTTTTTT (n.233+237_233+238insACCTTTTTTTTT) c.236+237_236+238insACCTTTTTTTTT (n.236+237_236+238insACCTTTTTTTTT) | dbSNP |
19 | g.694577C>A | CA631294537 | PRSS57 | c.233+237G>T (n.233+237G>T) c.236+237G>T (n.236+237G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694577C= | CA2317263388 | PRSS57 | c.233+237G= (n.233+237G=) c.236+237G= (n.236+237G=) | |
19 | g.694577C>T | CA303953036 | PRSS57 | c.233+237G>A (n.233+237G>A) c.236+237G>A (n.236+237G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694578A= | CA2317263389 | PRSS57 | c.233+236T= (n.233+236T=) c.236+236T= (n.236+236T=) | |
19 | g.694578A>G | CA303953037 | PRSS57 | c.233+236T>C (n.233+236T>C) c.236+236T>C (n.236+236T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694579T>A | CA631294538 | PRSS57 | c.233+235A>T (n.233+235A>T) c.236+235A>T (n.236+235A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694579T>C | CA303953048 | PRSS57 | c.233+235A>G (n.233+235A>G) c.236+235A>G (n.236+235A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694579T= | CA2317263390 | PRSS57 | c.233+235A= (n.233+235A=) c.236+235A= (n.236+235A=) | |
19 | g.694580A= | CA2317263391 | PRSS57 | c.233+234T= (n.233+234T=) c.236+234T= (n.236+234T=) | |
19 | g.694580A>G | CA2317263392 | PRSS57 | c.233+234T>C (n.233+234T>C) c.236+234T>C (n.236+234T>C) | dbSNP |
19 | g.694581G>A | CA884127441 | PRSS57 | c.233+233C>T (n.233+233C>T) c.236+233C>T (n.236+233C>T) | dbSNP |
19 | g.694581G= | CA2317263393 | PRSS57 | c.233+233C= (n.233+233C=) c.236+233C= (n.236+233C=) | |
19 | g.694582T>C | CA2317263395 | PRSS57 | c.233+232A>G (n.233+232A>G) c.236+232A>G (n.236+232A>G) | dbSNP |
19 | g.694582T>G | CA992435328 | PRSS57 | c.233+232A>C (n.233+232A>C) c.236+232A>C (n.236+232A>C) | gnomAD v3 gnomAD v4 |
19 | g.694582T= | CA2317263394 | PRSS57 | c.233+232A= (n.233+232A=) c.236+232A= (n.236+232A=) | |
19 | g.694586A= | CA2317263396 | PRSS57 | c.233+228T= (n.233+228T=) c.236+228T= (n.236+228T=) | |
19 | g.694586A>G | CA884127443 | PRSS57 | c.233+228T>C (n.233+228T>C) c.236+228T>C (n.236+228T>C) | dbSNP |
19 | g.694586A>T | CA303953055 | PRSS57 | c.233+228T>A (n.233+228T>A) c.236+228T>A (n.236+228T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694587G>A | CA303953064 | PRSS57 | c.233+227C>T (n.233+227C>T) c.236+227C>T (n.236+227C>T) | dbSNP |
19 | g.694587G= | CA2317263397 | PRSS57 | c.233+227C= (n.233+227C=) c.236+227C= (n.236+227C=) | |
19 | g.694588T>A | CA992435333 | PRSS57 | c.233+226A>T (n.233+226A>T) c.236+226A>T (n.236+226A>T) | gnomAD v3 gnomAD v4 |
19 | g.694591C>G | CA2563128954 | PRSS57 | c.233+223G>C (n.233+223G>C) c.236+223G>C (n.236+223G>C) | |
19 | g.694592A>G | CA2546367546 | PRSS57 | c.233+222T>C (n.233+222T>C) c.236+222T>C (n.236+222T>C) | |
19 | g.694593G>A | CA303953073 | PRSS57 | c.233+221C>T (n.233+221C>T) c.236+221C>T (n.236+221C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694593G= | CA2317263398 | PRSS57 | c.233+221C= (n.233+221C=) c.236+221C= (n.236+221C=) | |
19 | g.694595A= | CA2317263399 | PRSS57 | c.233+219T= (n.233+219T=) c.236+219T= (n.236+219T=) | |
19 | g.694595A>C | CA2508261728 | PRSS57 | c.233+219T>G (n.233+219T>G) c.236+219T>G (n.236+219T>G) | |
19 | g.694595A>T | CA2317263400 | PRSS57 | c.233+219T>A (n.233+219T>A) c.236+219T>A (n.236+219T>A) | dbSNP |
19 | g.694600A= | CA2317263401 | PRSS57 | c.233+214T= (n.233+214T=) c.236+214T= (n.236+214T=) | |
19 | g.694600A>T | CA2317263402 | PRSS57 | c.233+214T>A (n.233+214T>A) c.236+214T>A (n.236+214T>A) | dbSNP |
19 | g.694601A>G | CA2813227826 | PRSS57 | c.233+213T>C (n.233+213T>C) c.236+213T>C (n.236+213T>C) | |
19 | g.694601_694606delinsATATGT | CA2317263403 | PRSS57 | c.233+208_233+213delinsACATAT (n.233+208_233+213delinsACATAT) c.236+208_236+213delinsACATAT (n.236+208_236+213delinsACATAT) | |
19 | g.694602_694606del | CA2317263404 | PRSS57 | c.233+208_233+212del (n.233+208_233+212del) c.236+208_236+212del (n.236+208_236+212del) | dbSNP |
19 | g.694603A= | CA2317263405 | PRSS57 | c.233+211T= (n.233+211T=) c.236+211T= (n.236+211T=) | |
19 | g.694604T>C | CA303953075 | PRSS57 | c.233+210A>G (n.233+210A>G) c.236+210A>G (n.236+210A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694604T= | CA2317263407 | PRSS57 | c.233+210A= (n.233+210A=) c.236+210A= (n.236+210A=) | |
19 | g.694605_694606dup | CA2317263406 | PRSS57 | c.233+209_233+210dup (n.233+209_233+210dup) c.236+209_236+210dup (n.236+209_236+210dup) | dbSNP |
19 | g.694606T>C | CA884127447 | PRSS57 | c.233+208A>G (n.233+208A>G) c.236+208A>G (n.236+208A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694606T= | CA2317263408 | PRSS57 | c.233+208A= (n.233+208A=) c.236+208A= (n.236+208A=) | |
19 | g.694607A= | CA2317263409 | PRSS57 | c.233+207T= (n.233+207T=) c.236+207T= (n.236+207T=) | |
19 | g.694607A>C | CA2317263410 | PRSS57 | c.233+207T>G (n.233+207T>G) c.236+207T>G (n.236+207T>G) | dbSNP |
19 | g.694607A>G | CA992435335 | PRSS57 | c.233+207T>C (n.233+207T>C) c.236+207T>C (n.236+207T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694607A>T | CA2545171385 | PRSS57 | c.233+207T>A (n.233+207T>A) c.236+207T>A (n.236+207T>A) | |
19 | g.694608C>A | CA631294539 | PRSS57 | c.233+206G>T (n.233+206G>T) c.236+206G>T (n.236+206G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694608C= | CA2317263411 | PRSS57 | c.233+206G= (n.233+206G=) c.236+206G= (n.236+206G=) | |
19 | g.694608C>T | CA2317263412 | PRSS57 | c.233+206G>A (n.233+206G>A) c.236+206G>A (n.236+206G>A) | dbSNP |
19 | g.694610_694611insTTTTTTTT | CA2535045436 | PRSS57 | c.233+205_233+206insAAAAAAAA (n.233+205_233+206insAAAAAAAA) c.236+205_236+206insAAAAAAAA (n.236+205_236+206insAAAAAAAA) | |
19 | g.694610T>C | CA303953082 | PRSS57 | c.233+204A>G (n.233+204A>G) c.236+204A>G (n.236+204A>G) | dbSNP |
19 | g.694610T= | CA2317263413 | PRSS57 | c.233+204A= (n.233+204A=) c.236+204A= (n.236+204A=) | |
19 | g.694611G>T | CA2544666663 | PRSS57 | c.233+203C>A (n.233+203C>A) c.236+203C>A (n.236+203C>A) | |
19 | g.694615C>A | CA303953086 | PRSS57 | c.233+199G>T (n.233+199G>T) c.236+199G>T (n.236+199G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694615C= | CA2317263414 | PRSS57 | c.233+199G= (n.233+199G=) c.236+199G= (n.236+199G=) | |
19 | g.694615C>T | CA2317263415 | PRSS57 | c.233+199G>A (n.233+199G>A) c.236+199G>A (n.236+199G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694616G>A | CA884127456 | PRSS57 | c.233+198C>T (n.233+198C>T) c.236+198C>T (n.236+198C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694616G= | CA2317263416 | PRSS57 | c.233+198C= (n.233+198C=) c.236+198C= (n.236+198C=) | |
19 | g.694616G>T | CA884127458 | PRSS57 | c.233+198C>A (n.233+198C>A) c.236+198C>A (n.236+198C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694617C= | CA2317263417 | PRSS57 | c.233+197G= (n.233+197G=) c.236+197G= (n.236+197G=) | |
19 | g.694617C>G | CA303953098 | PRSS57 | c.233+197G>C (n.233+197G>C) c.236+197G>C (n.236+197G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694619T>C | CA2317263419 | PRSS57 | c.233+195A>G (n.233+195A>G) c.236+195A>G (n.236+195A>G) | dbSNP |
19 | g.694619T= | CA2317263418 | PRSS57 | c.233+195A= (n.233+195A=) c.236+195A= (n.236+195A=) | |
19 | g.694625T>C | CA631294540 | PRSS57 | c.233+189A>G (n.233+189A>G) c.236+189A>G (n.236+189A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694625T= | CA2317263420 | PRSS57 | c.233+189A= (n.233+189A=) c.236+189A= (n.236+189A=) | |
19 | g.694626T>G | CA303953105 | PRSS57 | c.233+188A>C (n.233+188A>C) c.236+188A>C (n.236+188A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694626T= | CA2317263421 | PRSS57 | c.233+188A= (n.233+188A=) c.236+188A= (n.236+188A=) | |
19 | g.694627C>A | CA303953112 | PRSS57 | c.233+187G>T (n.233+187G>T) c.236+187G>T (n.236+187G>T) | dbSNP |
19 | g.694627C= | CA2317263422 | PRSS57 | c.233+187G= (n.233+187G=) c.236+187G= (n.236+187G=) | |
19 | g.694628T>C | CA992435347 | PRSS57 | c.233+186A>G (n.233+186A>G) c.236+186A>G (n.236+186A>G) | dbSNP |
19 | g.694628T= | CA2317263423 | PRSS57 | c.233+186A= (n.233+186A=) c.236+186A= (n.236+186A=) | |
19 | g.694631T>C | CA2317263425 | PRSS57 | c.233+183A>G (n.233+183A>G) c.236+183A>G (n.236+183A>G) | dbSNP |
19 | g.694631T= | CA2317263424 | PRSS57 | c.233+183A= (n.233+183A=) c.236+183A= (n.236+183A=) | |
19 | g.694632G>A | CA992435353 | PRSS57 | c.233+182C>T (n.233+182C>T) c.236+182C>T (n.236+182C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694632G= | CA2317263426 | PRSS57 | c.233+182C= (n.233+182C=) c.236+182C= (n.236+182C=) | |
19 | g.694633_694644delinsTGCTTCTTTTGC | CA2317263427 | PRSS57 | c.233+170_233+181delinsGCAAAAGAAGCA (n.233+170_233+181delinsGCAAAAGAAGCA) c.236+170_236+181delinsGCAAAAGAAGCA (n.236+170_236+181delinsGCAAAAGAAGCA) | |
19 | g.694634_694637delinsGCTT | CA2317263429 | PRSS57 | c.233+177_233+180delinsAAGC (n.233+177_233+180delinsAAGC) c.236+177_236+180delinsAAGC (n.236+177_236+180delinsAAGC) | |
19 | g.694634_694644del | CA2317263428 | PRSS57 | c.233+170_233+180del (n.233+170_233+180del) c.236+170_236+180del (n.236+170_236+180del) | dbSNP |
19 | g.694638_694640del | CA2317263430 | PRSS57 | c.233+177_233+179del (n.233+177_233+179del) c.236+177_236+179del (n.236+177_236+179del) | dbSNP |
19 | g.694636T>G | CA2317263432 | PRSS57 | c.233+178A>C (n.233+178A>C) c.236+178A>C (n.236+178A>C) | dbSNP |
19 | g.694636T= | CA2317263431 | PRSS57 | c.233+178A= (n.233+178A=) c.236+178A= (n.236+178A=) | |
19 | g.694637T>G | CA303953127 | PRSS57 | c.233+177A>C (n.233+177A>C) c.236+177A>C (n.236+177A>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694637T= | CA2317263433 | PRSS57 | c.233+177A= (n.233+177A=) c.236+177A= (n.236+177A=) | |
19 | g.694639T>C | CA884127468 | PRSS57 | c.233+175A>G (n.233+175A>G) c.236+175A>G (n.236+175A>G) | dbSNP |
19 | g.694639T= | CA2317263434 | PRSS57 | c.233+175A= (n.233+175A=) c.236+175A= (n.236+175A=) | |
19 | g.694642T>G | CA2572380603 | PRSS57 | c.233+172A>C (n.233+172A>C) c.236+172A>C (n.236+172A>C) | |
19 | g.694645C= | CA2317263435 | PRSS57 | c.233+169G= (n.233+169G=) c.236+169G= (n.236+169G=) | |
19 | g.694645C>T | CA992435363 | PRSS57 | c.233+169G>A (n.233+169G>A) c.236+169G>A (n.236+169G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694646_694647delinsTC | CA2317263436 | PRSS57 | c.233+167_233+168delinsGA (n.233+167_233+168delinsGA) c.236+167_236+168delinsGA (n.236+167_236+168delinsGA) | |
19 | g.694649del | CA303953142 | PRSS57 | c.233+167del (n.233+167del) c.236+167del (n.236+167del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694648C>A | CA2317263438 | PRSS57 | c.233+166G>T (n.233+166G>T) c.236+166G>T (n.236+166G>T) | dbSNP |
19 | g.694648C= | CA2317263437 | PRSS57 | c.233+166G= (n.233+166G=) c.236+166G= (n.236+166G=) | |
19 | g.694648C>T | CA2317263439 | PRSS57 | c.233+166G>A (n.233+166G>A) c.236+166G>A (n.236+166G>A) | dbSNP |
19 | g.694649C= | CA2317263441 | PRSS57 | c.233+165G= (n.233+165G=) c.236+165G= (n.236+165G=) | |
19 | g.694649_694650delinsCT | CA2317263440 | PRSS57 | c.233+164_233+165delinsAG (n.233+164_233+165delinsAG) c.236+164_236+165delinsAG (n.236+164_236+165delinsAG) | |
19 | g.694650del | CA303953155 | PRSS57 | c.233+164del (n.233+164del) c.236+164del (n.236+164del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694650T>C | CA303953157 | PRSS57 | c.233+164A>G (n.233+164A>G) c.236+164A>G (n.236+164A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694650T>G | CA2317263443 | PRSS57 | c.233+164A>C (n.233+164A>C) c.236+164A>C (n.236+164A>C) | dbSNP |
19 | g.694650T= | CA2317263444 | PRSS57 | c.233+164A= (n.233+164A=) c.236+164A= (n.236+164A=) | |
19 | g.694650dup | CA303953151 | PRSS57 | c.233+164dup (n.233+164dup) c.236+164dup (n.236+164dup) | dbSNP |
19 | g.694650_694651delinsTG | CA2317263442 | PRSS57 | c.233+163_233+164delinsCA (n.233+163_233+164delinsCA) c.236+163_236+164delinsCA (n.236+163_236+164delinsCA) | |
19 | g.694651del | CA2317263445 | PRSS57 | c.233+163del (n.233+163del) c.236+163del (n.236+163del) | dbSNP |
19 | g.694651G>A | CA303953159 | PRSS57 | c.233+163C>T (n.233+163C>T) c.236+163C>T (n.236+163C>T) | dbSNP |
19 | g.694651G= | CA2317263446 | PRSS57 | c.233+163C= (n.233+163C=) c.236+163C= (n.236+163C=) | |
19 | g.694655T>C | CA992435369 | PRSS57 | c.233+159A>G (n.233+159A>G) c.236+159A>G (n.236+159A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694655T= | CA2317263447 | PRSS57 | c.233+159A= (n.233+159A=) c.236+159A= (n.236+159A=) | |
19 | g.694656A>C | CA2735458100 | PRSS57 | c.233+158T>G (n.233+158T>G) c.236+158T>G (n.236+158T>G) | dbSNP |
19 | g.694657T>C | CA2317263449 | PRSS57 | c.233+157A>G (n.233+157A>G) c.236+157A>G (n.236+157A>G) | dbSNP |
19 | g.694657T= | CA2317263448 | PRSS57 | c.233+157A= (n.233+157A=) c.236+157A= (n.236+157A=) | |
19 | g.694658C>A | CA2317263451 | PRSS57 | c.233+156G>T (n.233+156G>T) c.236+156G>T (n.236+156G>T) | dbSNP |
19 | g.694658C= | CA2317263450 | PRSS57 | c.233+156G= (n.233+156G=) c.236+156G= (n.236+156G=) | |
19 | g.694662C>A | CA2587779132 | PRSS57 | c.233+152G>T (n.233+152G>T) c.236+152G>T (n.236+152G>T) | gnomAD v4 |
19 | g.694662C>T | CA2587779133 | PRSS57 | c.233+152G>A (n.233+152G>A) c.236+152G>A (n.236+152G>A) | gnomAD v4 |
19 | g.694663T>C | CA2317263453 | PRSS57 | c.233+151A>G (n.233+151A>G) c.236+151A>G (n.236+151A>G) | dbSNP |
19 | g.694663T= | CA2317263452 | PRSS57 | c.233+151A= (n.233+151A=) c.236+151A= (n.236+151A=) | |
19 | g.694664G>A | CA303953168 | PRSS57 | c.233+150C>T (n.233+150C>T) c.236+150C>T (n.236+150C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694664G= | CA2317263454 | PRSS57 | c.233+150C= (n.233+150C=) c.236+150C= (n.236+150C=) | |
19 | g.694664G>T | CA2587779136 | PRSS57 | c.233+150C>A (n.233+150C>A) c.236+150C>A (n.236+150C>A) | gnomAD v4 |
19 | g.694665T>C | CA2587779137 | PRSS57 | c.233+149A>G (n.233+149A>G) c.236+149A>G (n.236+149A>G) | gnomAD v4 |
19 | g.694666T>A | CA2587779138 | PRSS57 | c.233+148A>T (n.233+148A>T) c.236+148A>T (n.236+148A>T) | gnomAD v4 |
19 | g.694666T>C | CA2587779139 | PRSS57 | c.233+148A>G (n.233+148A>G) c.236+148A>G (n.236+148A>G) | gnomAD v4 |
19 | g.694667T>C | CA2317263456 | PRSS57 | c.233+147A>G (n.233+147A>G) c.236+147A>G (n.236+147A>G) | dbSNP |
19 | g.694667T= | CA2317263455 | PRSS57 | c.233+147A= (n.233+147A=) c.236+147A= (n.236+147A=) | |
19 | g.694668T>C | CA884127478 | PRSS57 | c.233+146A>G (n.233+146A>G) c.236+146A>G (n.236+146A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694668T= | CA2317263457 | PRSS57 | c.233+146A= (n.233+146A=) c.236+146A= (n.236+146A=) | |
19 | g.694669C>A | CA2587779141 | PRSS57 | c.233+145G>T (n.233+145G>T) c.236+145G>T (n.236+145G>T) | gnomAD v4 |
19 | g.694669C= | CA2317263458 | PRSS57 | c.233+145G= (n.233+145G=) c.236+145G= (n.236+145G=) | |
19 | g.694669C>G | CA884127480 | PRSS57 | c.233+145G>C (n.233+145G>C) c.236+145G>C (n.236+145G>C) | dbSNP gnomAD v4 |
19 | g.694669C>T | CA2587779143 | PRSS57 | c.233+145G>A (n.233+145G>A) c.236+145G>A (n.236+145G>A) | gnomAD v4 |
19 | g.694670_694671del | CA2587779142 | PRSS57 | c.233+144_233+145del (n.233+144_233+145del) c.236+144_236+145del (n.236+144_236+145del) | gnomAD v4 |
19 | g.694670C>T | CA2533756504 | PRSS57 | c.233+144G>A (n.233+144G>A) c.236+144G>A (n.236+144G>A) | |
19 | g.694671C>A | CA2587779144 | PRSS57 | c.233+143G>T (n.233+143G>T) c.236+143G>T (n.236+143G>T) | gnomAD v4 |
19 | g.694671C>T | CA2587779145 | PRSS57 | c.233+143G>A (n.233+143G>A) c.236+143G>A (n.236+143G>A) | gnomAD v4 |