19 | g.852855C= | CA2317360035 | ELANE | c.68-21C= (n.68-21C=)
| |
19 | g.852855C>T | CA9025921 | ELANE | c.68-21C>T (n.68-21C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852856C>A | CA2587804832 | ELANE | c.68-20C>A (n.68-20C>A)
| gnomAD v4 |
19 | g.852856C= | CA2317360038 | ELANE | c.68-20C= (n.68-20C=)
| |
19 | g.852856C>G | CA2317360039 | ELANE | c.68-20C>G (n.68-20C>G)
| dbSNP |
19 | g.852856C>T | CA631295693 | ELANE | c.68-20C>T (n.68-20C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852857G>A | CA9025922 | ELANE | c.68-19G>A (n.68-19G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852857G>C | CA2576540440 | ELANE | c.68-19G>C (n.68-19G>C)
| |
19 | g.852857G= | CA2317360041 | ELANE | c.68-19G= (n.68-19G=)
| |
19 | g.852857G>T | CA2587804833 | ELANE | c.68-19G>T (n.68-19G>T)
| gnomAD v4 |
19 | g.852858C>G | CA2587804834 | ELANE | c.68-18C>G (n.68-18C>G)
| gnomAD v4 |
19 | g.852859A= | CA2317360043 | ELANE | c.68-17A= (n.68-17A=)
| |
19 | g.852859A>G | CA884312643 | ELANE | c.68-17A>G (n.68-17A>G)
| dbSNP |
19 | g.852859A>T | CA2587804835 | ELANE | c.68-17A>T (n.68-17A>T)
| gnomAD v4 |
19 | g.852860C>A | CA9025923 | ELANE | c.68-16C>A (n.68-16C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852860C= | CA2317360045 | ELANE | c.68-16C= (n.68-16C=)
| |
19 | g.852860C>G | CA2587804838 | ELANE | c.68-16C>G (n.68-16C>G)
| gnomAD v4 |
19 | g.852860C>T | CA2587804839 | ELANE | c.68-16C>T (n.68-16C>T)
| gnomAD v4 |
19 | g.852861C>A | CA9025924 | ELANE | c.68-15C>A (n.68-15C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852861C= | CA2317360048 | ELANE | c.68-15C= (n.68-15C=)
| |
19 | g.852861C>G | CA884312654 | ELANE | c.68-15C>G (n.68-15C>G)
| dbSNP |
19 | g.852861C>T | CA9025925 | ELANE | c.68-15C>T (n.68-15C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852862C= | CA2317360050 | ELANE | c.68-14C= (n.68-14C=)
| |
19 | g.852862C>G | CA884312657 | ELANE | c.68-14C>G (n.68-14C>G)
| dbSNP |
19 | g.852862C>T | CA2580096956 | ELANE | c.68-14C>T (n.68-14C>T)
| ClinVar gnomAD v4 |
19 | g.852863G>A | CA9025926 | ELANE | c.68-13G>A (n.68-13G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852863G= | CA2317360052 | ELANE | c.68-13G= (n.68-13G=)
| |
19 | g.852863G>T | CA2587804847 | ELANE | c.68-13G>T (n.68-13G>T)
| gnomAD v4 |
19 | g.852864G>A | CA657480001 | ELANE | c.68-12G>A (n.68-12G>A)
| COSMIC |
19 | g.852864G>C | CA631295694 | ELANE | c.68-12G>C (n.68-12G>C)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852864G= | CA2317360055 | ELANE | c.68-12G= (n.68-12G=)
| |
19 | g.852864G>T | CA645373216 | ELANE | c.68-12G>T (n.68-12G>T)
| ClinVar dbSNP gnomAD v4 |
19 | g.852865T>C | CA2587804849 | ELANE | c.68-11T>C (n.68-11T>C)
| gnomAD v4 |
19 | g.852866G>A | CA631295695 | ELANE | c.68-10G>A (n.68-10G>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852866G= | CA2317360057 | ELANE | c.68-10G= (n.68-10G=)
| |
19 | g.852866G>T | CA2587804852 | ELANE | c.68-10G>T (n.68-10G>T)
| gnomAD v4 |
19 | g.852867T>C | CA2587804854 | ELANE | c.68-9T>C (n.68-9T>C)
| gnomAD v4 |
19 | g.852868G>A | CA2587804855 | ELANE | c.68-8G>A (n.68-8G>A)
| gnomAD v4 |
19 | g.852868G>T | CA2587804856 | ELANE | c.68-8G>T (n.68-8G>T)
| gnomAD v4 |
19 | g.852870C>A | CA2587804857 | ELANE | c.68-6C>A (n.68-6C>A)
| gnomAD v4 |
19 | g.852870C>T | CA2587804858 | ELANE | c.68-6C>T (n.68-6C>T)
| gnomAD v4 |
19 | g.852871C>A | CA2317360060 | ELANE | c.68-5C>A (n.68-5C>A)
| ClinVar dbSNP gnomAD v4 |
19 | g.852871C= | CA2317360059 | ELANE | c.68-5C= (n.68-5C=)
| |
19 | g.852871C>T | CA303942704 | ELANE | c.68-5C>T (n.68-5C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852873C>T | CA2587804861 | ELANE | c.68-3C>T (n.68-3C>T)
| gnomAD v4 |
19 | g.852874A>C | CA402914277 | ELANE | c.68-2A>C (n.68-2A>C)
| |
19 | g.852874A>G | CA402914279 | ELANE | c.68-2A>G (n.68-2A>G)
| gnomAD v4 |
19 | g.852874A>T | CA402914278 | ELANE | c.68-2A>T (n.68-2A>T)
| |
19 | g.852875G>A | CA402914280 | ELANE | c.68-1G>A (n.68-1G>A)
| gnomAD v4 |
19 | g.852875G>C | CA402914281 | ELANE | c.68-1G>C (n.68-1G>C)
| |
19 | g.852875G>T | CA402914282 | ELANE | c.68-1G>T (n.68-1G>T)
| gnomAD v4 |
19 | g.852876G>A | CA402914283 | ELANE | c.68G>A (p.Gly23Asp)
| ClinVar dbSNP gnomAD v4 |
19 | g.852876G>C | CA402914284 | ELANE | c.68G>C (p.Gly23Ala)
| |
19 | g.852876G>T | CA402914285 | ELANE | c.68G>T (p.Gly23Val)
| gnomAD v4 |
19 | g.852877C>A | CA504684585 | ELANE | c.69C>A (p.Gly23=)
| |
19 | g.852877C>G | CA504684586 | ELANE | c.69C>G (p.Gly23=)
| |
19 | g.852877C>T | CA504684588 | ELANE | c.69C>T (p.Gly23=)
| |
19 | g.852878A= | CA2317360061 | ELANE | c.70A= (p.Thr24=)
| |
19 | g.852878A>C | CA9025927 | ELANE | c.70A>C (p.Thr24Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852878A>G | CA402914286 | ELANE | c.70A>G (p.Thr24Ala)
| |
19 | g.852878A>T | CA402914287 | ELANE | c.70A>T (p.Thr24Ser)
| |
19 | g.852879C>A | CA402914288 | ELANE | c.71C>A (p.Thr24Asn)
| gnomAD v4 |
19 | g.852879C>G | CA402914289 | ELANE | c.71C>G (p.Thr24Ser)
| |
19 | g.852879C>T | CA402914290 | ELANE | c.71C>T (p.Thr24Ile)
| gnomAD v4 |
19 | g.852880C>A | CA504684596 | ELANE | c.72C>A (p.Thr24=)
| gnomAD v4 |
19 | g.852880C>G | CA504684598 | ELANE | c.72C>G (p.Thr24=)
| |
19 | g.852880C>T | CA504684600 | ELANE | c.72C>T (p.Thr24=)
| gnomAD v4 |
19 | g.852881G>A | CA402914293 | ELANE | c.73G>A (p.Ala25Thr)
| ClinVar gnomAD v4 |
19 | g.852881G>C | CA402914292 | ELANE | c.73G>C (p.Ala25Pro)
| |
19 | g.852881G>T | CA402914291 | ELANE | c.73G>T (p.Ala25Ser)
| gnomAD v4 |
19 | g.852882C>A | CA402914294 | ELANE | c.74C>A (p.Ala25Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.852882C= | CA2317360063 | ELANE | c.74C= (p.Ala25=)
| |
19 | g.852882C>G | CA402914296 | ELANE | c.74C>G (p.Ala25Gly)
| |
19 | g.852882C>T | CA402914297 | ELANE | c.74C>T (p.Ala25Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.852883G>A | CA9025928 | ELANE | c.75G>A (p.Ala25=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852883G>C | CA504684606 | ELANE | c.75G>C (p.Ala25=)
| |
19 | g.852883G= | CA2317360065 | ELANE | c.75G= (p.Ala25=)
| |
19 | g.852883G>T | CA504684607 | ELANE | c.75G>T (p.Ala25=)
| gnomAD v4 |
19 | g.852884C>A | CA402914300 | ELANE | c.76C>A (p.Leu26Met)
| |
19 | g.852884C>G | CA402914301 | ELANE | c.76C>G (p.Leu26Val)
| |
19 | g.852884C>T | CA504684609 | ELANE | c.76C>T (p.Leu26=)
| |
19 | g.852885T>A | CA402914303 | ELANE | c.77T>A (p.Leu26Gln)
| |
19 | g.852885T>C | CA10583959 | ELANE | c.77T>C (p.Leu26Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.852885T>G | CA402914305 | ELANE | c.77T>G (p.Leu26Arg)
| |
19 | g.852885T= | CA2317360067 | ELANE | c.77T= (p.Leu26=)
| |
19 | g.852886G>A | CA504684610 | ELANE | c.78G>A (p.Leu26=)
| |
19 | g.852886G>C | CA504684611 | ELANE | c.78G>C (p.Leu26=)
| |
19 | g.852886G>T | CA504684612 | ELANE | c.78G>T (p.Leu26=)
| gnomAD v4 |
19 | g.852887G>A | CA402914306 | ELANE | c.79G>A (p.Ala27Thr)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852887G>C | CA402914307 | ELANE | c.79G>C (p.Ala27Pro)
| |
19 | g.852887G= | CA2317360069 | ELANE | c.79G= (p.Ala27=)
| |
19 | g.852887G>T | CA402914309 | ELANE | c.79G>T (p.Ala27Ser)
| gnomAD v4 |
19 | g.852888C>A | CA402914314 | ELANE | c.80C>A (p.Ala27Asp)
| ClinVar gnomAD v4 |
19 | g.852888C>G | CA402914311 | ELANE | c.80C>G (p.Ala27Gly)
| |
19 | g.852888C>T | CA402914312 | ELANE | c.80C>T (p.Ala27Val)
| gnomAD v4 COSMIC |
19 | g.852889C>A | CA504684615 | ELANE | c.81C>A (p.Ala27=)
| |
19 | g.852889C>G | CA504684616 | ELANE | c.81C>G (p.Ala27=)
| |
19 | g.852889C>T | CA504684617 | ELANE | c.81C>T (p.Ala27=)
| ClinVar dbSNP gnomAD v4 |
19 | g.852890T>A | CA402914315 | ELANE | c.82T>A (p.Ser28Thr)
| |
19 | g.852890T>C | CA402914319 | ELANE | c.82T>C (p.Ser28Pro)
| |
19 | g.852890T>G | CA402914317 | ELANE | c.82T>G (p.Ser28Ala)
| |
19 | g.852891C>A | CA402914321 | ELANE | c.83C>A (p.Ser28Ter)
| gnomAD v4 |
19 | g.852891C= | CA2317360070 | ELANE | c.83C= (p.Ser28=)
| |
19 | g.852891C>G | CA402914323 | ELANE | c.83C>G (p.Ser28Trp)
| |
19 | g.852891C>T | CA402914322 | ELANE | c.83C>T (p.Ser28Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.852892G>A | CA504684622 | ELANE | c.84G>A (p.Ser28=)
| gnomAD v4 |
19 | g.852892G>C | CA504684623 | ELANE | c.84G>C (p.Ser28=)
| |
19 | g.852892G>T | CA504684624 | ELANE | c.84G>T (p.Ser28=)
| gnomAD v4 |
19 | g.852893G>A | CA402914325 | ELANE | c.85G>A (p.Glu29Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.852893G>C | CA402914329 | ELANE | c.85G>C (p.Glu29Gln)
| |
19 | g.852893G= | CA2317360072 | ELANE | c.85G= (p.Glu29=)
| |
19 | g.852893G>T | CA402914327 | ELANE | c.85G>T (p.Glu29Ter)
| gnomAD v4 |
19 | g.852894A>C | CA402914330 | ELANE | c.86A>C (p.Glu29Ala)
| |
19 | g.852894A>G | CA402914333 | ELANE | c.86A>G (p.Glu29Gly)
| gnomAD v4 |
19 | g.852894A>T | CA402914331 | ELANE | c.86A>T (p.Glu29Val)
| |
19 | g.852895G>A | CA504684625 | ELANE | c.87G>A (p.Glu29=)
| |
19 | g.852895G>C | CA402914335 | ELANE | c.87G>C (p.Glu29Asp)
| |
19 | g.852895G= | CA2317360073 | ELANE | c.87G= (p.Glu29=)
| |
19 | g.852895G>T | CA402914337 | ELANE | c.87G>T (p.Glu29Asp)
| dbSNP gnomAD v4 |
19 | g.852896A>C | CA402914338 | ELANE | c.88A>C (p.Ile30Leu)
| |
19 | g.852896A>G | CA402914340 | ELANE | c.88A>G (p.Ile30Val)
| |
19 | g.852896A>T | CA402914341 | ELANE | c.88A>T (p.Ile30Phe)
| |
19 | g.852897T>A | CA402914343 | ELANE | c.89T>A (p.Ile30Asn)
| |
19 | g.852897T>C | CA402914344 | ELANE | c.89T>C (p.Ile30Thr)
| gnomAD v4 |
19 | g.852897T>G | CA402914345 | ELANE | c.89T>G (p.Ile30Ser)
| |
19 | g.852898T>A | CA504684627 | ELANE | c.90T>A (p.Ile30=)
| |
19 | g.852898T>C | CA504684629 | ELANE | c.90T>C (p.Ile30=)
| gnomAD v4 |
19 | g.852898T>G | CA402914347 | ELANE | c.90T>G (p.Ile30Met)
| ClinVar dbSNP |
19 | g.852898T= | CA2317360075 | ELANE | c.90T= (p.Ile30=)
| |
19 | g.852899del | CA2580096957 | ELANE | c.91del (p.Val31TrpfsTer29)
| ClinVar dbSNP gnomAD v4 |
19 | g.852899G>A | CA402914349 | ELANE | c.91G>A (p.Val31Met)
| ClinVar dbSNP gnomAD v2 |
19 | g.852899G>C | CA402914350 | ELANE | c.91G>C (p.Val31Leu)
| |
19 | g.852899G>T | CA402914351 | ELANE | c.91G>T (p.Val31Leu)
| gnomAD v4 |
19 | g.852899_852900delinsGT | CA2317360076 | ELANE | c.91_92delinsGT (p.Val31=)
| |
19 | g.852900del | CA631295696 | ELANE | c.92del (p.Val31GlyfsTer29)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852900T>A | CA402914352 | ELANE | c.92T>A (p.Val31Glu)
| |
19 | g.852900T>C | CA402914353 | ELANE | c.92T>C (p.Val31Ala)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852900T>G | CA402914354 | ELANE | c.92T>G (p.Val31Gly)
| |
19 | g.852900T= | CA2317360078 | ELANE | c.92T= (p.Val31=)
| |
19 | g.852901G>A | CA504684634 | ELANE | c.93G>A (p.Val31=)
| dbSNP gnomAD v4 |
19 | g.852901G>C | CA504684635 | ELANE | c.93G>C (p.Val31=)
| gnomAD v4 |
19 | g.852901G= | CA2317360081 | ELANE | c.93G= (p.Val31=)
| |
19 | g.852901G>T | CA303942719 | ELANE | c.93G>T (p.Val31=)
| ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.852906dup | CA504684637 | ELANE | c.98dup (p.Arg34ProfsTer?)
| gnomAD v4 COSMIC |
19 | g.852906del | CA645613900 | ELANE | c.98del (p.Gly33AlafsTer27)
| ClinVar gnomAD v4 COSMIC |
19 | g.852902G>A | CA402914356 | ELANE | c.94G>A (p.Gly32Arg)
| |
19 | g.852902G>C | CA9025929 | ELANE | c.94G>C (p.Gly32Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852902G= | CA2317360082 | ELANE | c.94G= (p.Gly32=)
| |
19 | g.852902G>T | CA402914358 | ELANE | c.94G>T (p.Gly32Trp)
| gnomAD v4 |
19 | g.852903G>A | CA402914359 | ELANE | c.95G>A (p.Gly32Glu)
| gnomAD v4 |
19 | g.852903G>C | CA402914361 | ELANE | c.95G>C (p.Gly32Ala)
| |
19 | g.852903G>T | CA402914363 | ELANE | c.95G>T (p.Gly32Val)
| gnomAD v4 |
19 | g.852904G>A | CA9025930 | ELANE | c.96G>A (p.Gly32=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852904G>C | CA9025931 | ELANE | c.96G>C (p.Gly32=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852904G= | CA2317360084 | ELANE | c.96G= (p.Gly32=)
| |
19 | g.852904G>T | CA504684644 | ELANE | c.96G>T (p.Gly32=)
| gnomAD v4 |
19 | g.852905G>A | CA402914366 | ELANE | c.97G>A (p.Gly33Ser)
| gnomAD v4 |
19 | g.852905G>C | CA402914367 | ELANE | c.97G>C (p.Gly33Arg)
| |
19 | g.852905G>T | CA402914369 | ELANE | c.97G>T (p.Gly33Cys)
| gnomAD v4 |
19 | g.852906G>A | CA9025932 | ELANE | c.98G>A (p.Gly33Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852906G>C | CA402914372 | ELANE | c.98G>C (p.Gly33Ala)
| |
19 | g.852906G= | CA2317360086 | ELANE | c.98G= (p.Gly33=)
| |
19 | g.852906G>T | CA402914373 | ELANE | c.98G>T (p.Gly33Val)
| gnomAD v4 |
19 | g.852907C>A | CA504684645 | ELANE | c.99C>A (p.Gly33=)
| |
19 | g.852907C= | CA2317360088 | ELANE | c.99C= (p.Gly33=)
| |
19 | g.852907C>G | CA504684646 | ELANE | c.99C>G (p.Gly33=)
| gnomAD v4 |
19 | g.852907C>T | CA9025933 | ELANE | c.99C>T (p.Gly33=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852908C>A | CA504684647 | ELANE | c.100C>A (p.Arg34=)
| gnomAD v4 |
19 | g.852908C= | CA2317360090 | ELANE | c.100C= (p.Arg34=)
| |
19 | g.852908C>G | CA402914376 | ELANE | c.100C>G (p.Arg34Gly)
| |
19 | g.852908C>T | CA9025934 | ELANE | c.100C>T (p.Arg34Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852909G>A | CA402914379 | ELANE | c.101G>A (p.Arg34Gln)
| gnomAD v4 |
19 | g.852909G>C | CA402914380 | ELANE | c.101G>C (p.Arg34Pro)
| |
19 | g.852909G>T | CA402914381 | ELANE | c.101G>T (p.Arg34Leu)
| ClinVar gnomAD v4 |
19 | g.852910G>A | CA504684650 | ELANE | c.102G>A (p.Arg34=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852910G>C | CA504684651 | ELANE | c.102G>C (p.Arg34=)
| |
19 | g.852910G= | CA2317360092 | ELANE | c.102G= (p.Arg34=)
| |
19 | g.852910G>T | CA504684652 | ELANE | c.102G>T (p.Arg34=)
| ClinVar dbSNP gnomAD v4 |
19 | g.852911C>A | CA504684653 | ELANE | c.103C>A (p.Arg35=)
| gnomAD v4 |
19 | g.852911C= | CA2317360093 | ELANE | c.103C= (p.Arg35=)
| |
19 | g.852911C>G | CA402914383 | ELANE | c.103C>G (p.Arg35Gly)
| gnomAD v4 |
19 | g.852911C>T | CA9025935 | ELANE | c.103C>T (p.Arg35Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852912G>A | CA9025936 | ELANE | c.104G>A (p.Arg35Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852912G>C | CA402914386 | ELANE | c.104G>C (p.Arg35Pro)
| |
19 | g.852912G= | CA2317360095 | ELANE | c.104G= (p.Arg35=)
| |
19 | g.852912G>T | CA402914387 | ELANE | c.104G>T (p.Arg35Leu)
| gnomAD v4 |
19 | g.852913A>C | CA504684657 | ELANE | c.105A>C (p.Arg35=)
| |
19 | g.852913A>G | CA504684658 | ELANE | c.105A>G (p.Arg35=)
| |
19 | g.852913A>T | CA504684659 | ELANE | c.105A>T (p.Arg35=)
| |
19 | g.852914G>A | CA402914390 | ELANE | c.106G>A (p.Ala36Thr)
| |
19 | g.852914G>C | CA402914391 | ELANE | c.106G>C (p.Ala36Pro)
| |
19 | g.852914G>T | CA402914393 | ELANE | c.106G>T (p.Ala36Ser)
| gnomAD v4 |
19 | g.852915C>A | CA402914398 | ELANE | c.107C>A (p.Ala36Glu)
| gnomAD v4 |
19 | g.852915C= | CA2317360096 | ELANE | c.107C= (p.Ala36=)
| |
19 | g.852915C>G | CA402914394 | ELANE | c.107C>G (p.Ala36Gly)
| ClinVar dbSNP gnomAD v4 |
19 | g.852915C>T | CA402914396 | ELANE | c.107C>T (p.Ala36Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852916G>A | CA303942762 | ELANE | c.108G>A (p.Ala36=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852916G>C | CA504684663 | ELANE | c.108G>C (p.Ala36=)
| |
19 | g.852916G= | CA2317360103 | ELANE | c.108G= (p.Ala36=)
| |
19 | g.852916G>T | CA504684664 | ELANE | c.108G>T (p.Ala36=)
| dbSNP gnomAD v4 |
19 | g.852917C>A | CA504684665 | ELANE | c.109C>A (p.Arg37=)
| |
19 | g.852917C= | CA2317360105 | ELANE | c.109C= (p.Arg37=)
| |
19 | g.852917C>G | CA402914400 | ELANE | c.109C>G (p.Arg37Gly)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852917C>T | CA402914402 | ELANE | c.109C>T (p.Arg37Trp)
| gnomAD v4 |
19 | g.852918G>A | CA9025937 | ELANE | c.110G>A (p.Arg37Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852918G>C | CA402914405 | ELANE | c.110G>C (p.Arg37Pro)
| |
19 | g.852918G= | CA2317360106 | ELANE | c.110G= (p.Arg37=)
| |
19 | g.852918G>T | CA402914408 | ELANE | c.110G>T (p.Arg37Leu)
| gnomAD v4 |
19 | g.852919G>A | CA504684668 | ELANE | c.111G>A (p.Arg37=)
| gnomAD v4 |
19 | g.852919G>C | CA504684669 | ELANE | c.111G>C (p.Arg37=)
| |
19 | g.852919G>T | CA504684670 | ELANE | c.111G>T (p.Arg37=)
| gnomAD v4 |
19 | g.852920C>A | CA402914413 | ELANE | c.112C>A (p.Pro38Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852920C= | CA2317360108 | ELANE | c.112C= (p.Pro38=)
| |
19 | g.852920C>G | CA402914415 | ELANE | c.112C>G (p.Pro38Ala)
| |
19 | g.852920C>T | CA402914417 | ELANE | c.112C>T (p.Pro38Ser)
| gnomAD v4 |
19 | g.852921C>A | CA402914419 | ELANE | c.113C>A (p.Pro38His)
| |
19 | g.852921C= | CA2317360109 | ELANE | c.113C= (p.Pro38=)
| |
19 | g.852921C>G | CA402914421 | ELANE | c.113C>G (p.Pro38Arg)
| |
19 | g.852921C>T | CA303942767 | ELANE | c.113C>T (p.Pro38Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.852922C>A | CA504684676 | ELANE | c.114C>A (p.Pro38=)
| gnomAD v4 |
19 | g.852922C= | CA2317360110 | ELANE | c.114C= (p.Pro38=)
| |
19 | g.852922C>G | CA504684677 | ELANE | c.114C>G (p.Pro38=)
| |
19 | g.852922C>T | CA303942769 | ELANE | c.114C>T (p.Pro38=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.852923C>A | CA402914428 | ELANE | c.115C>A (p.His39Asn)
| |
19 | g.852923C>G | CA402914427 | ELANE | c.115C>G (p.His39Asp)
| |
19 | g.852923C>T | CA402914425 | ELANE | c.115C>T (p.His39Tyr)
| gnomAD v4 |
19 | g.852924A>C | CA402914432 | ELANE | c.116A>C (p.His39Pro)
| |
19 | g.852924A>G | CA402914431 | ELANE | c.116A>G (p.His39Arg)
| gnomAD v4 |
19 | g.852924A>T | CA402914434 | ELANE | c.116A>T (p.His39Leu)
| |
19 | g.852925C>A | CA9025938 | ELANE | c.117C>A (p.His39Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852925C= | CA2317360111 | ELANE | c.117C= (p.His39=)
| |
19 | g.852925C>G | CA402914435 | ELANE | c.117C>G (p.His39Gln)
| ClinVar |
19 | g.852925C>T | CA504684679 | ELANE | c.117C>T (p.His39=)
| dbSNP gnomAD v4 COSMIC |
19 | g.852926G>A | CA303942780 | ELANE | c.118G>A (p.Ala40Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852926G>C | CA402914437 | ELANE | c.118G>C (p.Ala40Pro)
| gnomAD v4 |
19 | g.852926G= | CA2317360112 | ELANE | c.118G= (p.Ala40=)
| |
19 | g.852926G>T | CA402914439 | ELANE | c.118G>T (p.Ala40Ser)
| gnomAD v4 |
19 | g.852927C>A | CA402914444 | ELANE | c.119C>A (p.Ala40Glu)
| gnomAD v4 |
19 | g.852927C= | CA2317360113 | ELANE | c.119C= (p.Ala40=)
| |
19 | g.852927C>G | CA402914443 | ELANE | c.119C>G (p.Ala40Gly)
| |
19 | g.852927C>T | CA402914441 | ELANE | c.119C>T (p.Ala40Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.852928G>A | CA504684683 | ELANE | c.120G>A (p.Ala40=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.852928G>C | CA504684686 | ELANE | c.120G>C (p.Ala40=)
| gnomAD v4 |
19 | g.852928G= | CA2317360114 | ELANE | c.120G= (p.Ala40=)
| |
19 | g.852928G>T | CA504684684 | ELANE | c.120G>T (p.Ala40=)
| gnomAD v4 |
19 | g.852929T>A | CA402914446 | ELANE | c.121T>A (p.Trp41Arg)
| |
19 | g.852929T>C | CA402914448 | ELANE | c.121T>C (p.Trp41Arg)
| |
19 | g.852929T>G | CA402914450 | ELANE | c.121T>G (p.Trp41Gly)
| |
19 | g.852930G>A | CA402914451 | ELANE | c.122G>A (p.Trp41Ter)
| |
19 | g.852930G>C | CA402914453 | ELANE | c.122G>C (p.Trp41Ser)
| |
19 | g.852930G>T | CA402914459 | ELANE | c.122G>T (p.Trp41Leu)
| gnomAD v4 |
19 | g.852931G>A | CA402914463 | ELANE | c.123G>A (p.Trp41Ter)
| gnomAD v4 |
19 | g.852931G>C | CA402914468 | ELANE | c.123G>C (p.Trp41Cys)
| |
19 | g.852931G>T | CA402914465 | ELANE | c.123G>T (p.Trp41Cys)
| gnomAD v4 |
19 | g.852931_852932insA | CA2740091830 | ELANE | c.123_124insA (p.Pro42ThrfsTer?)
| ClinVar |
19 | g.852932C>A | CA402914470 | ELANE | c.124C>A (p.Pro42Thr)
| |
19 | g.852932C= | CA2317360115 | ELANE | c.124C= (p.Pro42=)
| |
19 | g.852932C>G | CA402914471 | ELANE | c.124C>G (p.Pro42Ala)
| |
19 | g.852932C>T | CA303942787 | ELANE | c.124C>T (p.Pro42Ser)
| dbSNP gnomAD v4 |
19 | g.852933C>A | CA402914474 | ELANE | c.125C>A (p.Pro42His)
| |
19 | g.852933C>G | CA402914477 | ELANE | c.125C>G (p.Pro42Arg)
| |
19 | g.852933C>T | CA402914480 | ELANE | c.125C>T (p.Pro42Leu)
| gnomAD v4 |
19 | g.852934C>A | CA504684691 | ELANE | c.126C>A (p.Pro42=)
| |
19 | g.852934C= | CA2317360116 | ELANE | c.126C= (p.Pro42=)
| |
19 | g.852934C>G | CA504684693 | ELANE | c.126C>G (p.Pro42=)
| |
19 | g.852934C>T | CA290719 | ELANE | c.126C>T (p.Pro42=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852935T>A | CA402914484 | ELANE | c.127T>A (p.Phe43Ile)
| |
19 | g.852935T>C | CA402914486 | ELANE | c.127T>C (p.Phe43Leu)
| ClinVar gnomAD v4 |
19 | g.852935T>G | CA402914489 | ELANE | c.127T>G (p.Phe43Val)
| |
19 | g.852936T>A | CA402914495 | ELANE | c.128T>A (p.Phe43Tyr)
| gnomAD v4 |
19 | g.852936T>C | CA402914493 | ELANE | c.128T>C (p.Phe43Ser)
| |
19 | g.852936T>G | CA402914492 | ELANE | c.128T>G (p.Phe43Cys)
| |
19 | g.852937C>A | CA402914499 | ELANE | c.129C>A (p.Phe43Leu)
| |
19 | g.852937C>G | CA402914501 | ELANE | c.129C>G (p.Phe43Leu)
| ClinVar |
19 | g.852937C>T | CA504684696 | ELANE | c.129C>T (p.Phe43=)
| |
19 | g.852938A= | CA2317360117 | ELANE | c.130A= (p.Met44=)
| |
19 | g.852938A>C | CA402914504 | ELANE | c.130A>C (p.Met44Leu)
| |
19 | g.852938A>G | CA9025939 | ELANE | c.130A>G (p.Met44Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852938A>T | CA402914507 | ELANE | c.130A>T (p.Met44Leu)
| |
19 | g.852938_852949delinsATGGTGTCCCTG | CA2317360118 | ELANE | c.130_141delinsATGGTGTCCCTG (p.Met44=)
| |
19 | g.852939T>A | CA402914514 | ELANE | c.131T>A (p.Met44Lys)
| |
19 | g.852939T>C | CA402914512 | ELANE | c.131T>C (p.Met44Thr)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852939T>G | CA402914510 | ELANE | c.131T>G (p.Met44Arg)
| |
19 | g.852939T= | CA2317360119 | ELANE | c.131T= (p.Met44=)
| |
19 | g.852939_852949del | CA631295707 | ELANE | c.131_141del (p.Met44ThrfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852940G>A | CA402914517 | ELANE | c.132G>A (p.Met44Ile)
| gnomAD v4 |
19 | g.852940G>C | CA402914519 | ELANE | c.132G>C (p.Met44Ile)
| |
19 | g.852940G>T | CA402914521 | ELANE | c.132G>T (p.Met44Ile)
| gnomAD v4 |
19 | g.852941G>A | CA402914523 | ELANE | c.133G>A (p.Val45Met)
| ClinVar |
19 | g.852941G>C | CA402914526 | ELANE | c.133G>C (p.Val45Leu)
| ClinVar |
19 | g.852941G= | CA2317360121 | ELANE | c.133G= (p.Val45=)
| |
19 | g.852941G>T | CA402914528 | ELANE | c.133G>T (p.Val45Leu)
| ClinVar dbSNP gnomAD v4 |
19 | g.852941_852947delinsGTGTCCC | CA2317360120 | ELANE | c.133_139delinsGTGTCCC (p.Val45=)
| |
19 | g.852942T>A | CA402914532 | ELANE | c.134T>A (p.Val45Glu)
| |
19 | g.852942T>C | CA402914537 | ELANE | c.134T>C (p.Val45Ala)
| gnomAD v4 |
19 | g.852942T>G | CA402914535 | ELANE | c.134T>G (p.Val45Gly)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852944_852949del | CA658824904 | ELANE | c.136_141del (p.Ser46_Leu47del)
| ClinVar dbSNP |
19 | g.852943G>A | CA504684703 | ELANE | c.135G>A (p.Val45=)
| |
19 | g.852943G>C | CA504684705 | ELANE | c.135G>C (p.Val45=)
| |
19 | g.852943G>T | CA504684704 | ELANE | c.135G>T (p.Val45=)
| gnomAD v4 |
19 | g.852944T>A | CA402914541 | ELANE | c.136T>A (p.Ser46Thr)
| |
19 | g.852944T>C | CA402914542 | ELANE | c.136T>C (p.Ser46Pro)
| ClinVar dbSNP |
19 | g.852944T>G | CA402914544 | ELANE | c.136T>G (p.Ser46Ala)
| |
19 | g.852944T= | CA2317360122 | ELANE | c.136T= (p.Ser46=)
| |
19 | g.852945C>A | CA10583957 | ELANE | c.137C>A (p.Ser46Tyr)
| ClinVar dbSNP |
19 | g.852945C= | CA2317360123 | ELANE | c.137C= (p.Ser46=)
| |
19 | g.852945C>G | CA402914549 | ELANE | c.137C>G (p.Ser46Cys)
| |
19 | g.852945C>T | CA16043127 | ELANE | c.137C>T (p.Ser46Phe)
| ClinVar dbSNP |
19 | g.852946C>A | CA504684706 | ELANE | c.138C>A (p.Ser46=)
| gnomAD v4 |
19 | g.852946C>G | CA504684707 | ELANE | c.138C>G (p.Ser46=)
| |
19 | g.852946C>T | CA504684710 | ELANE | c.138C>T (p.Ser46=)
| ClinVar dbSNP gnomAD v4 |
19 | g.852947C>A | CA402914552 | ELANE | c.139C>A (p.Leu47Met)
| |
19 | g.852947C>G | CA402914555 | ELANE | c.139C>G (p.Leu47Val)
| gnomAD v4 |
19 | g.852947C>T | CA504684712 | ELANE | c.139C>T (p.Leu47=)
| |
19 | g.852948T>A | CA402914559 | ELANE | c.140T>A (p.Leu47Gln)
| |
19 | g.852948T>C | CA10583960 | ELANE | c.140T>C (p.Leu47Pro)
| ClinVar dbSNP gnomAD v4 |
19 | g.852948T>G | CA402914562 | ELANE | c.140T>G (p.Leu47Arg)
| |
19 | g.852948T= | CA2317360124 | ELANE | c.140T= (p.Leu47=)
| |
19 | g.852949G>A | CA504684716 | ELANE | c.141G>A (p.Leu47=)
| dbSNP gnomAD v4 |
19 | g.852949G>C | CA504684717 | ELANE | c.141G>C (p.Leu47=)
| |
19 | g.852949G>T | CA504684718 | ELANE | c.141G>T (p.Leu47=)
| gnomAD v4 |
19 | g.852950C>A | CA9025940 | ELANE | c.142C>A (p.Gln48Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852950C= | CA2317360125 | ELANE | c.142C= (p.Gln48=)
| |
19 | g.852950C>G | CA402914568 | ELANE | c.142C>G (p.Gln48Glu)
| |
19 | g.852950C>T | CA402914566 | ELANE | c.142C>T (p.Gln48Ter)
| gnomAD v4 |
19 | g.852951A>C | CA402914572 | ELANE | c.143A>C (p.Gln48Pro)
| |
19 | g.852951A>G | CA402914575 | ELANE | c.143A>G (p.Gln48Arg)
| gnomAD v4 |
19 | g.852951A>T | CA402914573 | ELANE | c.143A>T (p.Gln48Leu)
| |
19 | g.852952del | CA2587804945 | ELANE | c.144del (p.Gln48HisfsTer12)
| gnomAD v4 |
19 | g.852952G>A | CA504684720 | ELANE | c.144G>A (p.Gln48=)
| dbSNP gnomAD v2 |
19 | g.852952G>C | CA402914577 | ELANE | c.144G>C (p.Gln48His)
| |
19 | g.852952G= | CA2317360126 | ELANE | c.144G= (p.Gln48=)
| |
19 | g.852952G>T | CA402914579 | ELANE | c.144G>T (p.Gln48His)
| gnomAD v4 |
19 | g.852953C>A | CA402914583 | ELANE | c.145C>A (p.Leu49Met)
| gnomAD v4 |
19 | g.852953C>G | CA402914584 | ELANE | c.145C>G (p.Leu49Val)
| |
19 | g.852953C>T | CA504684722 | ELANE | c.145C>T (p.Leu49=)
| gnomAD v4 |
19 | g.852954T>A | CA402914586 | ELANE | c.146T>A (p.Leu49Gln)
| |
19 | g.852954T>C | CA402914587 | ELANE | c.146T>C (p.Leu49Pro)
| ClinVar dbSNP gnomAD v4 |
19 | g.852954T>G | CA402914588 | ELANE | c.146T>G (p.Leu49Arg)
| |
19 | g.852955G>A | CA504684723 | ELANE | c.147G>A (p.Leu49=)
| |
19 | g.852955G>C | CA504684725 | ELANE | c.147G>C (p.Leu49=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852955G= | CA2317360127 | ELANE | c.147G= (p.Leu49=)
| |
19 | g.852955G>T | CA504684726 | ELANE | c.147G>T (p.Leu49=)
| gnomAD v4 |