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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.28845034G>A | CA395417752 | TUFM | c.436C>T (p.Pro146Ser) c.269C>T (p.Thr90Ile) | gnomAD v4 COSMIC |
| 16 | g.28845034G>C | CA395417754 | TUFM | c.436C>G (p.Pro146Ala) c.269C>G (p.Thr90Ser) | |
| 16 | g.28845034G= | CA2215863270 | TUFM | c.436C= (p.Pro146=) c.269C= (p.Thr90=) | |
| 16 | g.28845034G>T | CA395417755 | TUFM | c.436C>A (p.Pro146Thr) c.269C>A (p.Thr90Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845035T>A | CA494484809 | TUFM | c.435A>T (p.Ala145=) c.268A>T (p.Thr90Ser) | |
| 16 | g.28845035T>C | CA494484810 | TUFM | c.435A>G (p.Ala145=) c.268A>G (p.Thr90Ala) | |
| 16 | g.28845035T>G | CA494484811 | TUFM | c.435A>C (p.Ala145=) c.268A>C (p.Thr90Pro) | dbSNP |
| 16 | g.28845035T= | CA2215863273 | TUFM | c.435A= (p.Ala145=) c.268A= (p.Thr90=) | |
| 16 | g.28845036G>A | CA395417756 | TUFM | c.434C>T (p.Ala145Val) c.267C>T (p.Cys89=) | |
| 16 | g.28845036G>C | CA395417759 | TUFM | c.434C>G (p.Ala145Gly) c.267C>G (p.Cys89Trp) | |
| 16 | g.28845036G>T | CA395417757 | TUFM | c.434C>A (p.Ala145Glu) c.267C>A (p.Cys89Ter) | |
| 16 | g.28845037C>A | CA395417761 | TUFM | c.433G>T (p.Ala145Ser) c.266G>T (p.Cys89Phe) | |
| 16 | g.28845037C= | CA2215863277 | TUFM | c.433G= (p.Ala145=) c.266G= (p.Cys89=) | |
| 16 | g.28845037C>G | CA395417764 | TUFM | c.433G>C (p.Ala145Pro) c.266G>C (p.Cys89Ser) | |
| 16 | g.28845037C>T | CA395417763 | TUFM | c.433G>A (p.Ala145Thr) c.266G>A (p.Cys89Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845038A= | CA2215863279 | TUFM | c.432T= (p.Thr144=) c.265T= (p.Cys89=) | |
| 16 | g.28845038A>C | CA494484812 | TUFM | c.432T>G (p.Thr144=) c.265T>G (p.Cys89Gly) | |
| 16 | g.28845038A>G | CA7985636 | TUFM | c.432T>C (p.Thr144=) c.265T>C (p.Cys89Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845038A>T | CA494484813 | TUFM | c.432T>A (p.Thr144=) c.265T>A (p.Cys89Ser) | |
| 16 | g.28845039G>A | CA395417766 | TUFM | c.431C>T (p.Thr144Ile) c.264C>T (p.His88=) | gnomAD v4 |
| 16 | g.28845039G>C | CA395417767 | TUFM | c.431C>G (p.Thr144Ser) c.264C>G (p.His88Gln) | |
| 16 | g.28845039G>T | CA395417769 | TUFM | c.431C>A (p.Thr144Asn) c.264C>A (p.His88Gln) | |
| 16 | g.28845040T>A | CA395417773 | TUFM | c.430A>T (p.Thr144Ser) c.263A>T (p.His88Leu) | |
| 16 | g.28845040T>C | CA7985637 | TUFM | c.430A>G (p.Thr144Ala) c.263A>G (p.His88Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845040T>G | CA395417775 | TUFM | c.430A>C (p.Thr144Pro) c.263A>C (p.His88Pro) | |
| 16 | g.28845040T= | CA2215863281 | TUFM | c.430A= (p.Thr144=) c.263A= (p.His88=) | |
| 16 | g.28845041G>A | CA7985638 | TUFM | c.429C>T (p.Gly143=) c.262C>T (p.His88Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845041G>C | CA494484814 | TUFM | c.429C>G (p.Gly143=) c.262C>G (p.His88Asp) | |
| 16 | g.28845041G= | CA2215863283 | TUFM | c.429C= (p.Gly143=) c.262C= (p.His88=) | |
| 16 | g.28845041G>T | CA494484815 | TUFM | c.429C>A (p.Gly143=) c.262C>A (p.His88Asn) | |
| 16 | g.28845042C>A | CA395417776 | TUFM | c.428G>T (p.Gly143Val) c.261G>T (p.Arg87Ser) | |
| 16 | g.28845042C= | CA2215863285 | TUFM | c.428G= (p.Gly143=) c.261G= (p.Arg87=) | |
| 16 | g.28845042C>G | CA395417777 | TUFM | c.428G>C (p.Gly143Ala) c.261G>C (p.Arg87Ser) | |
| 16 | g.28845042C>T | CA395417778 | TUFM | c.428G>A (p.Gly143Asp) c.261G>A (p.Arg87=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845043C>A | CA395417780 | TUFM | c.427G>T (p.Gly143Cys) c.260G>T (p.Arg87Met) | |
| 16 | g.28845043C= | CA2215863290 | TUFM | c.427G= (p.Gly143=) c.260G= (p.Arg87=) | |
| 16 | g.28845043C>G | CA395417779 | TUFM | c.427G>C (p.Gly143Arg) c.260G>C (p.Arg87Thr) | |
| 16 | g.28845043C>T | CA7985639 | TUFM | c.427G>A (p.Gly143Ser) c.260G>A (p.Arg87Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845044T>A | CA494484816 | TUFM | c.426A>T (p.Thr142=) c.259A>T (p.Arg87Trp) | |
| 16 | g.28845044T>C | CA494484817 | TUFM | c.426A>G (p.Thr142=) c.259A>G (p.Arg87Gly) | |
| 16 | g.28845044T>G | CA494484818 | TUFM | c.426A>C (p.Thr142=) c.259A>C (p.Arg87=) | |
| 16 | g.28845045G>A | CA395417782 | TUFM | c.425C>T (p.Thr142Ile) c.258C>T (p.His86=) | |
| 16 | g.28845045G>C | CA395417783 | TUFM | c.425C>G (p.Thr142Arg) c.258C>G (p.His86Gln) | |
| 16 | g.28845045G>T | CA395417784 | TUFM | c.425C>A (p.Thr142Lys) c.258C>A (p.His86Gln) | |
| 16 | g.28845046T>A | CA395417785 | TUFM | c.424A>T (p.Thr142Ser) c.257A>T (p.His86Leu) | |
| 16 | g.28845046T>C | CA395417788 | TUFM | c.424A>G (p.Thr142Ala) c.257A>G (p.His86Arg) | |
| 16 | g.28845046T>G | CA395417789 | TUFM | c.424A>C (p.Thr142Pro) c.257A>C (p.His86Pro) | |
| 16 | g.28845047G>A | CA494484819 | TUFM | c.423C>T (p.Ile141=) c.256C>T (p.His86Tyr) | |
| 16 | g.28845047G>C | CA395417790 | TUFM | c.423C>G (p.Ile141Met) c.256C>G (p.His86Asp) | gnomAD v4 |
| 16 | g.28845047G= | CA2215863295 | TUFM | c.423C= (p.Ile141=) c.256C= (p.His86=) | |
| 16 | g.28845047G>T | CA7985640 | TUFM | c.423C>A (p.Ile141=) c.256C>A (p.His86Asn) | dbSNP ExAC gnomAD v4 |
| 16 | g.28845048A>C | CA395417792 | TUFM | c.422T>G (p.Ile141Ser) c.255T>G (p.Asp85Glu) | |
| 16 | g.28845048A>G | CA395417794 | TUFM | c.422T>C (p.Ile141Thr) c.255T>C (p.Asp85=) | |
| 16 | g.28845048A>T | CA395417798 | TUFM | c.422T>A (p.Ile141Asn) c.255T>A (p.Asp85Glu) | |
| 16 | g.28845049T>A | CA395417804 | TUFM | c.421A>T (p.Ile141Phe) c.254A>T (p.Asp85Val) | |
| 16 | g.28845049T>C | CA395417806 | TUFM | c.421A>G (p.Ile141Val) c.254A>G (p.Asp85Gly) | gnomAD v4 |
| 16 | g.28845049T>G | CA395417800 | TUFM | c.421A>C (p.Ile141Leu) c.254A>C (p.Asp85Ala) | gnomAD v4 |
| 16 | g.28845050C>A | CA395417808 | TUFM | c.420G>T (p.Met140Ile) c.253G>T (p.Asp85Tyr) | |
| 16 | g.28845050C>G | CA395417810 | TUFM | c.420G>C (p.Met140Ile) c.253G>C (p.Asp85His) | |
| 16 | g.28845050C>T | CA395417812 | TUFM | c.420G>A (p.Met140Ile) c.253G>A (p.Asp85Asn) | |
| 16 | g.28845051A>C | CA395417815 | TUFM | c.419T>G (p.Met140Arg) c.252T>G (p.Tyr84Ter) | |
| 16 | g.28845051A>G | CA395417817 | TUFM | c.419T>C (p.Met140Thr) c.252T>C (p.Tyr84=) | gnomAD v4 |
| 16 | g.28845051A>T | CA395417818 | TUFM | c.419T>A (p.Met140Lys) c.252T>A (p.Tyr84Ter) | |
| 16 | g.28845052T>A | CA395417834 | TUFM | c.418A>T (p.Met140Leu) c.251A>T (p.Tyr84Phe) | |
| 16 | g.28845052T>C | CA395417820 | TUFM | c.418A>G (p.Met140Val) c.251A>G (p.Tyr84Cys) | |
| 16 | g.28845052T>G | CA395417828 | TUFM | c.418A>C (p.Met140Leu) c.251A>C (p.Tyr84Ser) | |
| 16 | g.28845053A>C | CA395417836 | TUFM | c.417T>G (p.Asn139Lys) c.250T>G (p.Tyr84Asp) | |
| 16 | g.28845053A>G | CA494484820 | TUFM | c.417T>C (p.Asn139=) c.250T>C (p.Tyr84His) | |
| 16 | g.28845053A>T | CA395417838 | TUFM | c.417T>A (p.Asn139Lys) c.250T>A (p.Tyr84Asn) | |
| 16 | g.28845054T>A | CA395417842 | TUFM | c.416A>T (p.Asn139Ile) c.249A>T (p.Lys83Asn) | |
| 16 | g.28845054T>C | CA395417844 | TUFM | c.416A>G (p.Asn139Ser) c.249A>G (p.Lys83=) | |
| 16 | g.28845054T>G | CA395417848 | TUFM | c.416A>C (p.Asn139Thr) c.249A>C (p.Lys83Asn) | |
| 16 | g.28845055T>A | CA395417850 | TUFM | c.415A>T (p.Asn139Tyr) c.248A>T (p.Lys83Ile) | |
| 16 | g.28845055T>C | CA395417856 | TUFM | c.415A>G (p.Asn139Asp) c.248A>G (p.Lys83Arg) | |
| 16 | g.28845055T>G | CA395417851 | TUFM | c.415A>C (p.Asn139His) c.248A>C (p.Lys83Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845055T= | CA2215863298 | TUFM | c.415A= (p.Asn139=) c.248A= (p.Lys83=) | |
| 16 | g.28845056C>A | CA395417859 | TUFM | c.415-1G>T (n.415-1G>T) c.248-1G>T (n.248-1G>T) | |
| 16 | g.28845056C>G | CA395417860 | TUFM | c.415-1G>C (n.415-1G>C) c.248-1G>C (n.248-1G>C) | |
| 16 | g.28845056C>T | CA395417861 | TUFM | c.415-1G>A (n.415-1G>A) c.248-1G>A (n.248-1G>A) | |
| 16 | g.28845057T>A | CA395417862 | TUFM | c.415-2A>T (n.415-2A>T) c.248-2A>T (n.248-2A>T) | |
| 16 | g.28845057T>C | CA395417863 | TUFM | c.415-2A>G (n.415-2A>G) c.248-2A>G (n.248-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845057T>G | CA395417864 | TUFM | c.415-2A>C (n.415-2A>C) c.248-2A>C (n.248-2A>C) | |
| 16 | g.28845057T= | CA2215863300 | TUFM | c.415-2A= (n.415-2A=) c.248-2A= (n.248-2A=) | |
| 16 | g.28845057_28845058insTAACATAATCTGCATGACCC | CA2732136366 | TUFM | c.415-3_415-2insGGGTCATGCAGATTATGTTA (n.415-3_415-2insGGGTCATGCAGATTATGTTA) c.248-3_248-2insGGGTCATGCAGATTATGTTA (n.248-3_248-2insGGGTCATGCAGATTATGTTA) | dbSNP |
| 16 | g.28845057_28845058insTAACATAATCTGCATGACCCGGGCAGTCTGTGTG | CA2806422025 | TUFM | c.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA (n.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA) c.248-3_248-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA (n.248-3_248-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA) | |
| 16 | g.28845059G>A | CA2632531061 | TUFM | c.415-4C>T (n.415-4C>T) c.248-4C>T (n.248-4C>T) | gnomAD v4 |
| 16 | g.28845059G= | CA2215863302 | TUFM | c.415-4C= (n.415-4C=) c.248-4C= (n.248-4C=) | |
| 16 | g.28845059G>T | CA719724305 | TUFM | c.415-4C>A (n.415-4C>A) c.248-4C>A (n.248-4C>A) | dbSNP gnomAD v4 |
| 16 | g.28845059_28845060insGCAGTCTGTGTGGGCGT | CA2732136401 | TUFM | c.415-5_415-4insACGCCCACACAGACTGC (n.415-5_415-4insACGCCCACACAGACTGC) c.248-5_248-4insACGCCCACACAGACTGC (n.248-5_248-4insACGCCCACACAGACTGC) | dbSNP |
| 16 | g.28845060A>G | CA2806422027 | TUFM | c.415-5T>C (n.415-5T>C) c.248-5T>C (n.248-5T>C) | |
| 16 | g.28845060_28845063delinsAGAG | CA2215863303 | TUFM | c.415-8_415-5delinsCTCT (n.415-8_415-5delinsCTCT) c.248-8_248-5delinsCTCT (n.248-8_248-5delinsCTCT) | |
| 16 | g.28845061G>A | CA2215863309 | TUFM | c.415-6C>T (n.415-6C>T) c.248-6C>T (n.248-6C>T) | dbSNP |
| 16 | g.28845061G>C | CA7985641 | TUFM | c.415-6C>G (n.415-6C>G) c.248-6C>G (n.248-6C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845061G= | CA2215863310 | TUFM | c.415-6C= (n.415-6C=) c.248-6C= (n.248-6C=) | |
| 16 | g.28845064_28845066del | CA719724332 | TUFM | c.415-8_415-6del (n.415-8_415-6del) c.248-8_248-6del (n.248-8_248-6del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845062A= | CA2215863313 | TUFM | c.415-7T= (n.415-7T=) c.248-7T= (n.248-7T=) | |
| 16 | g.28845062A>G | CA7985642 | TUFM | c.415-7T>C (n.415-7T>C) c.248-7T>C (n.248-7T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845063G>A | CA2632531064 | TUFM | c.415-8C>T (n.415-8C>T) c.248-8C>T (n.248-8C>T) | gnomAD v4 |
| 16 | g.28845063G>C | CA976138056 | TUFM | c.415-8C>G (n.415-8C>G) c.248-8C>G (n.248-8C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845063G= | CA2215863318 | TUFM | c.415-8C= (n.415-8C=) c.248-8C= (n.248-8C=) | |
| 16 | g.28845064del | CA2806422028 | TUFM | c.415-8del (n.415-8del) c.248-8del (n.248-8del) | |
| 16 | g.28845064G>A | CA7985643 | TUFM | c.415-9C>T (n.415-9C>T) c.248-9C>T (n.248-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845064G= | CA2215863321 | TUFM | c.415-9C= (n.415-9C=) c.248-9C= (n.248-9C=) | |
| 16 | g.28845066G>A | CA7985644 | TUFM | c.415-11C>T (n.415-11C>T) c.248-11C>T (n.248-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845066G= | CA2215863325 | TUFM | c.415-11C= (n.415-11C=) c.248-11C= (n.248-11C=) | |
| 16 | g.28845066_28845071delinsGAAGGA | CA2215863326 | TUFM | c.415-16_415-11delinsTCCTTC (n.415-16_415-11delinsTCCTTC) c.248-16_248-11delinsTCCTTC (n.248-16_248-11delinsTCCTTC) | |
| 16 | g.28845074_28845078del | CA7985645 | TUFM | c.415-16_415-12del (n.415-16_415-12del) c.248-16_248-12del (n.248-16_248-12del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845069G>A | CA7985646 | TUFM | c.415-14C>T (n.415-14C>T) c.248-14C>T (n.248-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845069G>C | CA622162268 | TUFM | c.415-14C>G (n.415-14C>G) c.248-14C>G (n.248-14C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845069G= | CA2215863331 | TUFM | c.415-14C= (n.415-14C=) c.248-14C= (n.248-14C=) | |
| 16 | g.28845070G>A | CA7985647 | TUFM | c.415-15C>T (n.415-15C>T) c.248-15C>T (n.248-15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845070G= | CA2215863333 | TUFM | c.415-15C= (n.415-15C=) c.248-15C= (n.248-15C=) | |
| 16 | g.28845072A>G | CA2732136435 | TUFM | c.415-17T>C (n.415-17T>C) c.248-17T>C (n.248-17T>C) | dbSNP |
| 16 | g.28845075G>A | CA7985648 | TUFM | c.415-20C>T (n.415-20C>T) c.248-20C>T (n.248-20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845075G= | CA2215863336 | TUFM | c.415-20C= (n.415-20C=) c.248-20C= (n.248-20C=) | |
| 16 | g.28845075_28845076insCCCAACTCCCCACTCTTCCCTTTTGCATCCTTACCCAGGCTCTGAGT | CA2501269320 | TUFM | c.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG (n.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG) c.248-21_248-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG (n.248-21_248-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG) | |
| 16 | g.28845076A= | CA2215863341 | TUFM | c.415-21T= (n.415-21T=) c.248-21T= (n.248-21T=) | |
| 16 | g.28845076A>C | CA279238484 | TUFM | c.415-21T>G (n.415-21T>G) c.248-21T>G (n.248-21T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845076A>G | CA719724339 | TUFM | c.415-21T>C (n.415-21T>C) c.248-21T>C (n.248-21T>C) | dbSNP gnomAD v4 |
| 16 | g.28845078dup | CA2632531068 | TUFM | c.415-21dup (n.415-21dup) c.248-21dup (n.248-21dup) | gnomAD v4 |
| 16 | g.28845078A= | CA2215863342 | TUFM | c.415-23T= (n.415-23T=) c.248-23T= (n.248-23T=) | |
| 16 | g.28845078A>C | CA976138069 | TUFM | c.415-23T>G (n.415-23T>G) c.248-23T>G (n.248-23T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845078A>G | CA719724343 | TUFM | c.415-23T>C (n.415-23T>C) c.248-23T>C (n.248-23T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845079C= | CA2215863347 | TUFM | c.415-24G= (n.415-24G=) c.248-24G= (n.248-24G=) | |
| 16 | g.28845079C>G | CA622162269 | TUFM | c.415-24G>C (n.415-24G>C) c.248-24G>C (n.248-24G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845079C>T | CA279238485 | TUFM | c.415-24G>A (n.415-24G>A) c.248-24G>A (n.248-24G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845080A= | CA2215863353 | TUFM | c.415-25T= (n.415-25T=) c.248-25T= (n.248-25T=) | |
| 16 | g.28845080A>C | CA976138080 | TUFM | c.415-25T>G (n.415-25T>G) c.248-25T>G (n.248-25T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845080A>T | CA622162270 | TUFM | c.415-25T>A (n.415-25T>A) c.248-25T>A (n.248-25T>A) | dbSNP gnomAD v2 |
| 16 | g.28845081G>A | CA2632531079 | TUFM | c.415-26C>T (n.415-26C>T) c.248-26C>T (n.248-26C>T) | gnomAD v4 |
| 16 | g.28845081G>T | CA2632531080 | TUFM | c.415-26C>A (n.415-26C>A) c.248-26C>A (n.248-26C>A) | gnomAD v4 |
| 16 | g.28845083C>T | CA2632531083 | TUFM | c.415-28G>A (n.415-28G>A) c.248-28G>A (n.248-28G>A) | gnomAD v4 |
| 16 | g.28845085A>C | CA2632531084 | TUFM | c.415-30T>G (n.415-30T>G) c.248-30T>G (n.248-30T>G) | gnomAD v4 |
| 16 | g.28845085A>G | CA2632531085 | TUFM | c.415-30T>C (n.415-30T>C) c.248-30T>C (n.248-30T>C) | gnomAD v4 |
| 16 | g.28845086G>A | CA7985649 | TUFM | c.415-31C>T (n.415-31C>T) c.248-31C>T (n.248-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845086G= | CA2215863358 | TUFM | c.415-31C= (n.415-31C=) c.248-31C= (n.248-31C=) | |
| 16 | g.28845086G>T | CA2575959596 | TUFM | c.415-31C>A (n.415-31C>A) c.248-31C>A (n.248-31C>A) | |
| 16 | g.28845087T>C | CA2215863364 | TUFM | c.415-32A>G (n.415-32A>G) c.248-32A>G (n.248-32A>G) | dbSNP gnomAD v4 |
| 16 | g.28845087T= | CA2215863362 | TUFM | c.415-32A= (n.415-32A=) c.248-32A= (n.248-32A=) | |
| 16 | g.28845089C>A | CA2632531091 | TUFM | c.415-34G>T (n.415-34G>T) c.248-34G>T (n.248-34G>T) | gnomAD v4 |
| 16 | g.28845092C= | CA2215863368 | TUFM | c.415-37G= (n.415-37G=) c.248-37G= (n.248-37G=) | |
| 16 | g.28845092C>T | CA7985650 | TUFM | c.415-37G>A (n.415-37G>A) c.248-37G>A (n.248-37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845093G>A | CA622162271 | TUFM | c.415-38C>T (n.415-38C>T) c.248-38C>T (n.248-38C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845093G>C | CA2632531098 | TUFM | c.415-38C>G (n.415-38C>G) c.248-38C>G (n.248-38C>G) | gnomAD v4 |
| 16 | g.28845093G= | CA2215863371 | TUFM | c.415-38C= (n.415-38C=) c.248-38C= (n.248-38C=) | |
| 16 | g.28845093G>T | CA2632531095 | TUFM | c.415-38C>A (n.415-38C>A) c.248-38C>A (n.248-38C>A) | gnomAD v4 |
| 16 | g.28845095G>A | CA7985651 | TUFM | c.415-40C>T (n.415-40C>T) c.248-40C>T (n.248-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845095G= | CA2215863378 | TUFM | c.415-40C= (n.415-40C=) c.248-40C= (n.248-40C=) | |
| 16 | g.28845095G>T | CA2632531099 | TUFM | c.415-40C>A (n.415-40C>A) c.248-40C>A (n.248-40C>A) | gnomAD v4 |
| 16 | g.28845096C= | CA2215863382 | TUFM | c.415-41G= (n.415-41G=) c.248-41G= (n.248-41G=) | |
| 16 | g.28845096C>G | CA622162272 | TUFM | c.415-41G>C (n.415-41G>C) c.248-41G>C (n.248-41G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845096C>T | CA2215863385 | TUFM | c.415-41G>A (n.415-41G>A) c.248-41G>A (n.248-41G>A) | dbSNP |
| 16 | g.28845099T>C | CA2215863387 | TUFM | c.415-44A>G (n.415-44A>G) c.248-44A>G (n.248-44A>G) | dbSNP gnomAD v4 |
| 16 | g.28845099T>G | CA2632531102 | TUFM | c.415-44A>C (n.415-44A>C) c.248-44A>C (n.248-44A>C) | gnomAD v4 |
| 16 | g.28845099T= | CA2215863388 | TUFM | c.415-44A= (n.415-44A=) c.248-44A= (n.248-44A=) | |
| 16 | g.28845101C>T | CA2632531104 | TUFM | c.415-46G>A (n.415-46G>A) c.248-46G>A (n.248-46G>A) | gnomAD v4 |
| 16 | g.28845102A= | CA2215863389 | TUFM | c.415-47T= (n.415-47T=) c.248-47T= (n.248-47T=) | |
| 16 | g.28845102A>C | CA7985652 | TUFM | c.415-47T>G (n.415-47T>G) c.248-47T>G (n.248-47T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845103G>A | CA7985653 | TUFM | c.415-48C>T (n.415-48C>T) c.248-48C>T (n.248-48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845103G= | CA2215863392 | TUFM | c.415-48C= (n.415-48C=) c.248-48C= (n.248-48C=) | |
| 16 | g.28845103_28845104delinsGT | CA2215863393 | TUFM | c.415-49_415-48delinsAC (n.415-49_415-48delinsAC) c.248-49_248-48delinsAC (n.248-49_248-48delinsAC) | |
| 16 | g.28845105del | CA719724360 | TUFM | c.415-49del (n.415-49del) c.248-49del (n.248-49del) | dbSNP |
| 16 | g.28845107A= | CA2215863398 | TUFM | c.415-52T= (n.415-52T=) c.248-52T= (n.248-52T=) | |
| 16 | g.28845107A>G | CA7985654 | TUFM | c.415-52T>C (n.415-52T>C) c.248-52T>C (n.248-52T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845108C= | CA2215863399 | TUFM | c.415-53G= (n.415-53G=) c.248-53G= (n.248-53G=) | |
| 16 | g.28845108C>T | CA976138100 | TUFM | c.415-53G>A (n.415-53G>A) c.248-53G>A (n.248-53G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845114_28845130del | CA2632531109 | TUFM | c.415-73_415-57del (n.415-73_415-57del) c.248-73_248-57del (n.248-73_248-57del) | gnomAD v4 |
| 16 | g.28845113del | CA2806422037 | TUFM | c.415-58del (n.415-58del) c.248-58del (n.248-58del) | |
| 16 | g.28845113A= | CA2215863401 | TUFM | c.415-58T= (n.415-58T=) c.248-58T= (n.248-58T=) | |
| 16 | g.28845113A>G | CA2215863402 | TUFM | c.415-58T>C (n.415-58T>C) c.248-58T>C (n.248-58T>C) | dbSNP gnomAD v4 |
| 16 | g.28845114T>C | CA976138104 | TUFM | c.415-59A>G (n.415-59A>G) c.248-59A>G (n.248-59A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845114T= | CA2215863405 | TUFM | c.415-59A= (n.415-59A=) c.248-59A= (n.248-59A=) | |
| 16 | g.28845115A= | CA2215863413 | TUFM | c.415-60T= (n.415-60T=) c.248-60T= (n.248-60T=) | |
| 16 | g.28845115A>G | CA2215863420 | TUFM | c.415-60T>C (n.415-60T>C) c.248-60T>C (n.248-60T>C) | dbSNP gnomAD v4 |
| 16 | g.28845116T>A | CA2575959600 | TUFM | c.415-61A>T (n.415-61A>T) c.248-61A>T (n.248-61A>T) | |
| 16 | g.28845116T>C | CA622162273 | TUFM | c.415-61A>G (n.415-61A>G) c.248-61A>G (n.248-61A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845116T>G | CA2632531112 | TUFM | c.415-61A>C (n.415-61A>C) c.248-61A>C (n.248-61A>C) | gnomAD v4 |
| 16 | g.28845116T= | CA2215863428 | TUFM | c.415-61A= (n.415-61A=) c.248-61A= (n.248-61A=) | |
| 16 | g.28845118G>A | CA622162274 | TUFM | c.415-63C>T (n.415-63C>T) c.248-63C>T (n.248-63C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845118G>C | CA976138107 | TUFM | c.415-63C>G (n.415-63C>G) c.248-63C>G (n.248-63C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845118G= | CA2215863432 | TUFM | c.415-63C= (n.415-63C=) c.248-63C= (n.248-63C=) | |
| 16 | g.28845118G>T | CA2632531114 | TUFM | c.415-63C>A (n.415-63C>A) c.248-63C>A (n.248-63C>A) | gnomAD v4 |
| 16 | g.28845119C>G | CA2632531116 | TUFM | c.415-64G>C (n.415-64G>C) c.248-64G>C (n.248-64G>C) | gnomAD v4 |
| 16 | g.28845119C>T | CA2632531117 | TUFM | c.415-64G>A (n.415-64G>A) c.248-64G>A (n.248-64G>A) | gnomAD v4 |
| 16 | g.28845120C>A | CA2632531118 | TUFM | c.415-65G>T (n.415-65G>T) c.248-65G>T (n.248-65G>T) | gnomAD v4 |
| 16 | g.28845120C= | CA2215863435 | TUFM | c.415-65G= (n.415-65G=) c.248-65G= (n.248-65G=) | |
| 16 | g.28845121A>C | CA2521479760 | TUFM | c.415-66T>G (n.415-66T>G) c.248-66T>G (n.248-66T>G) | |
| 16 | g.28845121_28845124dup | CA719724364 | TUFM | c.415-69_415-66dup (n.415-69_415-66dup) c.248-69_248-66dup (n.248-69_248-66dup) | dbSNP |
| 16 | g.28845124T>G | CA2632531120 | TUFM | c.415-69A>C (n.415-69A>C) c.248-69A>C (n.248-69A>C) | gnomAD v4 |
| 16 | g.28845125G>T | CA2632531121 | TUFM | c.415-70C>A (n.415-70C>A) c.248-70C>A (n.248-70C>A) | gnomAD v4 |
| 16 | g.28845127A>G | CA2632531122 | TUFM | c.415-72T>C (n.415-72T>C) c.248-72T>C (n.248-72T>C) | gnomAD v4 |
| 16 | g.28845129C>A | CA2632531124 | TUFM | c.415-74G>T (n.415-74G>T) c.248-74G>T (n.248-74G>T) | gnomAD v4 |
| 16 | g.28845129C>G | CA2632531125 | TUFM | c.415-74G>C (n.415-74G>C) c.248-74G>C (n.248-74G>C) | gnomAD v4 |
| 16 | g.28845130A= | CA2215863440 | TUFM | c.415-75T= (n.415-75T=) c.248-75T= (n.248-75T=) | |
| 16 | g.28845130A>C | CA2632531126 | TUFM | c.415-75T>G (n.415-75T>G) c.248-75T>G (n.248-75T>G) | gnomAD v4 |
| 16 | g.28845130A>G | CA719724365 | TUFM | c.415-75T>C (n.415-75T>C) c.248-75T>C (n.248-75T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845131G>A | CA279238515 | TUFM | c.415-76C>T (n.415-76C>T) c.248-76C>T (n.248-76C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845131G= | CA2215863455 | TUFM | c.415-76C= (n.415-76C=) c.248-76C= (n.248-76C=) | |
| 16 | g.28845133T>C | CA976138117 | TUFM | c.415-78A>G (n.415-78A>G) c.248-78A>G (n.248-78A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845133T>G | CA976138116 | TUFM | c.415-78A>C (n.415-78A>C) c.248-78A>C (n.248-78A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845133T= | CA2215863467 | TUFM | c.415-78A= (n.415-78A=) c.248-78A= (n.248-78A=) |