Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.16915769T>CCA1893371448CUBNc.7210+52A>G (n.7210+52A>G)
c.3196+52A>G (n.3196+52A>G)
c.3172+52A>G (n.3172+52A>G)
c.3052+52A>G (n.3052+52A>G)
 dbSNP gnomAD v4
10g.16915769T=CA1893371447CUBNc.7210+52A= (n.7210+52A=)
c.3196+52A= (n.3196+52A=)
c.3172+52A= (n.3172+52A=)
c.3052+52A= (n.3052+52A=)
10g.16915771A>GCA2574500627CUBNc.7210+50T>C (n.7210+50T>C)
c.3196+50T>C (n.3196+50T>C)
c.3172+50T>C (n.3172+50T>C)
c.3052+50T>C (n.3052+50T>C)
10g.16915772G>ACA1893371450CUBNc.7210+49C>T (n.7210+49C>T)
c.3196+49C>T (n.3196+49C>T)
c.3172+49C>T (n.3172+49C>T)
c.3052+49C>T (n.3052+49C>T)
 dbSNP
10g.16915772G=CA1893371449CUBNc.7210+49C= (n.7210+49C=)
c.3196+49C= (n.3196+49C=)
c.3172+49C= (n.3172+49C=)
c.3052+49C= (n.3052+49C=)
10g.16915772G>TCA2608394722CUBNc.7210+49C>A (n.7210+49C>A)
c.3196+49C>A (n.3196+49C>A)
c.3172+49C>A (n.3172+49C>A)
c.3052+49C>A (n.3052+49C>A)
 gnomAD v4
10g.16915773T>ACA2608394723CUBNc.7210+48A>T (n.7210+48A>T)
c.3196+48A>T (n.3196+48A>T)
c.3172+48A>T (n.3172+48A>T)
c.3052+48A>T (n.3052+48A>T)
 gnomAD v4
10g.16915773T>GCA1893371452CUBNc.7210+48A>C (n.7210+48A>C)
c.3196+48A>C (n.3196+48A>C)
c.3172+48A>C (n.3172+48A>C)
c.3052+48A>C (n.3052+48A>C)
 dbSNP gnomAD v4
10g.16915773T=CA1893371451CUBNc.7210+48A= (n.7210+48A=)
c.3196+48A= (n.3196+48A=)
c.3172+48A= (n.3172+48A=)
c.3052+48A= (n.3052+48A=)
10g.16915774A=CA1893371453CUBNc.7210+47T= (n.7210+47T=)
c.3196+47T= (n.3196+47T=)
c.3172+47T= (n.3172+47T=)
c.3052+47T= (n.3052+47T=)
10g.16915774A>GCA2608394724CUBNc.7210+47T>C (n.7210+47T>C)
c.3196+47T>C (n.3196+47T>C)
c.3172+47T>C (n.3172+47T>C)
c.3052+47T>C (n.3052+47T>C)
 gnomAD v4
10g.16915774A>TCA1893371454CUBNc.7210+47T>A (n.7210+47T>A)
c.3196+47T>A (n.3196+47T>A)
c.3172+47T>A (n.3172+47T>A)
c.3052+47T>A (n.3052+47T>A)
 dbSNP gnomAD v4
10g.16915775C>TCA2608394725CUBNc.7210+46G>A (n.7210+46G>A)
c.3196+46G>A (n.3196+46G>A)
c.3172+46G>A (n.3172+46G>A)
c.3052+46G>A (n.3052+46G>A)
 gnomAD v4
10g.16915776A=CA1893371455CUBNc.7210+45T= (n.7210+45T=)
c.3196+45T= (n.3196+45T=)
c.3172+45T= (n.3172+45T=)
c.3052+45T= (n.3052+45T=)
10g.16915776A>CCA5423439CUBNc.7210+45T>G (n.7210+45T>G)
c.3196+45T>G (n.3196+45T>G)
c.3172+45T>G (n.3172+45T>G)
c.3052+45T>G (n.3052+45T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.16915776A>GCA5423438CUBNc.7210+45T>C (n.7210+45T>C)
c.3196+45T>C (n.3196+45T>C)
c.3172+45T>C (n.3172+45T>C)
c.3052+45T>C (n.3052+45T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.16915777T>CCA5423440CUBNc.7210+44A>G (n.7210+44A>G)
c.3196+44A>G (n.3196+44A>G)
c.3172+44A>G (n.3172+44A>G)
c.3052+44A>G (n.3052+44A>G)
 dbSNP ExAC gnomAD v4
10g.16915777T>GCA2608394726CUBNc.7210+44A>C (n.7210+44A>C)
c.3196+44A>C (n.3196+44A>C)
c.3172+44A>C (n.3172+44A>C)
c.3052+44A>C (n.3052+44A>C)
 gnomAD v4
10g.16915777T=CA1893371456CUBNc.7210+44A= (n.7210+44A=)
c.3196+44A= (n.3196+44A=)
c.3172+44A= (n.3172+44A=)
c.3052+44A= (n.3052+44A=)
10g.16915778G>ACA2574500628CUBNc.7210+43C>T (n.7210+43C>T)
c.3196+43C>T (n.3196+43C>T)
c.3172+43C>T (n.3172+43C>T)
c.3052+43C>T (n.3052+43C>T)
 gnomAD v4
10g.16915778G>TCA2608394727CUBNc.7210+43C>A (n.7210+43C>A)
c.3196+43C>A (n.3196+43C>A)
c.3172+43C>A (n.3172+43C>A)
c.3052+43C>A (n.3052+43C>A)
 gnomAD v4
10g.16915780G>TCA2608394728CUBNc.7210+41C>A (n.7210+41C>A)
c.3196+41C>A (n.3196+41C>A)
c.3172+41C>A (n.3172+41C>A)
c.3052+41C>A (n.3052+41C>A)
 gnomAD v4
10g.16915781_16915782insTTCTCTCCCTCCA2533250814CUBNc.7210+39_7210+40insGAGGGAGAGAA (n.7210+39_7210+40insGAGGGAGAGAA)
c.3196+39_3196+40insGAGGGAGAGAA (n.3196+39_3196+40insGAGGGAGAGAA)
c.3172+39_3172+40insGAGGGAGAGAA (n.3172+39_3172+40insGAGGGAGAGAA)
c.3052+39_3052+40insGAGGGAGAGAA (n.3052+39_3052+40insGAGGGAGAGAA)
10g.16915783A=CA1893371457CUBNc.7210+38T= (n.7210+38T=)
c.3196+38T= (n.3196+38T=)
c.3172+38T= (n.3172+38T=)
c.3052+38T= (n.3052+38T=)
10g.16915783A>TCA925385036CUBNc.7210+38T>A (n.7210+38T>A)
c.3196+38T>A (n.3196+38T>A)
c.3172+38T>A (n.3172+38T>A)
c.3052+38T>A (n.3052+38T>A)
 dbSNP gnomAD v3 gnomAD v4
10g.16915784A>GCA2608394729CUBNc.7210+37T>C (n.7210+37T>C)
c.3196+37T>C (n.3196+37T>C)
c.3172+37T>C (n.3172+37T>C)
c.3052+37T>C (n.3052+37T>C)
 gnomAD v4
10g.16915791C>ACA592313341CUBNc.7210+30G>T (n.7210+30G>T)
c.3196+30G>T (n.3196+30G>T)
c.3172+30G>T (n.3172+30G>T)
c.3052+30G>T (n.3052+30G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.16915791C=CA1893371458CUBNc.7210+30G= (n.7210+30G=)
c.3196+30G= (n.3196+30G=)
c.3172+30G= (n.3172+30G=)
c.3052+30G= (n.3052+30G=)
10g.16915791C>GCA2608394730CUBNc.7210+30G>C (n.7210+30G>C)
c.3196+30G>C (n.3196+30G>C)
c.3172+30G>C (n.3172+30G>C)
c.3052+30G>C (n.3052+30G>C)
 gnomAD v4
10g.16915791C>TCA2608394731CUBNc.7210+30G>A (n.7210+30G>A)
c.3196+30G>A (n.3196+30G>A)
c.3172+30G>A (n.3172+30G>A)
c.3052+30G>A (n.3052+30G>A)
 gnomAD v4
10g.16915793delCA2574500629CUBNc.7210+30del (n.7210+30del)
c.3196+30del (n.3196+30del)
c.3172+30del (n.3172+30del)
c.3052+30del (n.3052+30del)
10g.16915792C=CA1893371459CUBNc.7210+29G= (n.7210+29G=)
c.3196+29G= (n.3196+29G=)
c.3172+29G= (n.3172+29G=)
c.3052+29G= (n.3052+29G=)
10g.16915792C>TCA592313342CUBNc.7210+29G>A (n.7210+29G>A)
c.3196+29G>A (n.3196+29G>A)
c.3172+29G>A (n.3172+29G>A)
c.3052+29G>A (n.3052+29G>A)
 dbSNP gnomAD v2
10g.16915793C>ACA592313343CUBNc.7210+28G>T (n.7210+28G>T)
c.3196+28G>T (n.3196+28G>T)
c.3172+28G>T (n.3172+28G>T)
c.3052+28G>T (n.3052+28G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.16915793C=CA1893371460CUBNc.7210+28G= (n.7210+28G=)
c.3196+28G= (n.3196+28G=)
c.3172+28G= (n.3172+28G=)
c.3052+28G= (n.3052+28G=)
10g.16915794A=CA1893371461CUBNc.7210+27T= (n.7210+27T=)
c.3196+27T= (n.3196+27T=)
c.3172+27T= (n.3172+27T=)
c.3052+27T= (n.3052+27T=)
10g.16915794A>CCA592313344CUBNc.7210+27T>G (n.7210+27T>G)
c.3196+27T>G (n.3196+27T>G)
c.3172+27T>G (n.3172+27T>G)
c.3052+27T>G (n.3052+27T>G)
 dbSNP gnomAD v2 gnomAD v4
10g.16915795A>GCA2574500630CUBNc.7210+26T>C (n.7210+26T>C)
c.3196+26T>C (n.3196+26T>C)
c.3172+26T>C (n.3172+26T>C)
c.3052+26T>C (n.3052+26T>C)
10g.16915795_16915812delCA2608394732CUBNc.7210+9_7210+26del (n.7210+9_7210+26del)
c.3196+9_3196+26del (n.3196+9_3196+26del)
c.3172+9_3172+26del (n.3172+9_3172+26del)
c.3052+9_3052+26del (n.3052+9_3052+26del)
 gnomAD v4
10g.16915796A=CA1893371462CUBNc.7210+25T= (n.7210+25T=)
c.3196+25T= (n.3196+25T=)
c.3172+25T= (n.3172+25T=)
c.3052+25T= (n.3052+25T=)
10g.16915796A>GCA1893371463CUBNc.7210+25T>C (n.7210+25T>C)
c.3196+25T>C (n.3196+25T>C)
c.3172+25T>C (n.3172+25T>C)
c.3052+25T>C (n.3052+25T>C)
 dbSNP
10g.16915798G>TCA2786794130CUBNc.7210+23C>A (n.7210+23C>A)
c.3196+23C>A (n.3196+23C>A)
c.3172+23C>A (n.3172+23C>A)
c.3052+23C>A (n.3052+23C>A)
10g.16915799A>GCA2720987542CUBNc.7210+22T>C (n.7210+22T>C)
c.3196+22T>C (n.3196+22T>C)
c.3172+22T>C (n.3172+22T>C)
c.3052+22T>C (n.3052+22T>C)
 dbSNP
10g.16915800G>ACA5423441CUBNc.7210+21C>T (n.7210+21C>T)
c.3196+21C>T (n.3196+21C>T)
c.3172+21C>T (n.3172+21C>T)
c.3052+21C>T (n.3052+21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.16915800G>CCA2720767049CUBNc.7210+21C>G (n.7210+21C>G)
c.3196+21C>G (n.3196+21C>G)
c.3172+21C>G (n.3172+21C>G)
c.3052+21C>G (n.3052+21C>G)
 dbSNP
10g.16915800G=CA1893371464CUBNc.7210+21C= (n.7210+21C=)
c.3196+21C= (n.3196+21C=)
c.3172+21C= (n.3172+21C=)
c.3052+21C= (n.3052+21C=)
10g.16915802G>ACA2608394734CUBNc.7210+19C>T (n.7210+19C>T)
c.3196+19C>T (n.3196+19C>T)
c.3172+19C>T (n.3172+19C>T)
c.3052+19C>T (n.3052+19C>T)
 gnomAD v4
10g.16915802G>TCA2608394733CUBNc.7210+19C>A (n.7210+19C>A)
c.3196+19C>A (n.3196+19C>A)
c.3172+19C>A (n.3172+19C>A)
c.3052+19C>A (n.3052+19C>A)
 gnomAD v4
10g.16915803C=CA1893371465CUBNc.7210+18G= (n.7210+18G=)
c.3196+18G= (n.3196+18G=)
c.3172+18G= (n.3172+18G=)
c.3052+18G= (n.3052+18G=)
10g.16915803C>GCA592313346CUBNc.7210+18G>C (n.7210+18G>C)
c.3196+18G>C (n.3196+18G>C)
c.3172+18G>C (n.3172+18G>C)
c.3052+18G>C (n.3052+18G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.16915803C>TCA592313345CUBNc.7210+18G>A (n.7210+18G>A)
c.3196+18G>A (n.3196+18G>A)
c.3172+18G>A (n.3172+18G>A)
c.3052+18G>A (n.3052+18G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.16915805G>CCA2608394735CUBNc.7210+16C>G (n.7210+16C>G)
c.3196+16C>G (n.3196+16C>G)
c.3172+16C>G (n.3172+16C>G)
c.3052+16C>G (n.3052+16C>G)
 gnomAD v4
10g.16915805G=CA1893371466CUBNc.7210+16C= (n.7210+16C=)
c.3196+16C= (n.3196+16C=)
c.3172+16C= (n.3172+16C=)
c.3052+16C= (n.3052+16C=)
10g.16915805G>TCA662304747CUBNc.7210+16C>A (n.7210+16C>A)
c.3196+16C>A (n.3196+16C>A)
c.3172+16C>A (n.3172+16C>A)
c.3052+16C>A (n.3052+16C>A)
 dbSNP gnomAD v3 gnomAD v4
10g.16915806A>TCA2608394736CUBNc.7210+15T>A (n.7210+15T>A)
c.3196+15T>A (n.3196+15T>A)
c.3172+15T>A (n.3172+15T>A)
c.3052+15T>A (n.3052+15T>A)
 gnomAD v4
10g.16915808A=CA1893371467CUBNc.7210+13T= (n.7210+13T=)
c.3196+13T= (n.3196+13T=)
c.3172+13T= (n.3172+13T=)
c.3052+13T= (n.3052+13T=)
10g.16915808A>GCA662304749CUBNc.7210+13T>C (n.7210+13T>C)
c.3196+13T>C (n.3196+13T>C)
c.3172+13T>C (n.3172+13T>C)
c.3052+13T>C (n.3052+13T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.16915809T>CCA2608394737CUBNc.7210+12A>G (n.7210+12A>G)
c.3196+12A>G (n.3196+12A>G)
c.3172+12A>G (n.3172+12A>G)
c.3052+12A>G (n.3052+12A>G)
 gnomAD v4
10g.16915810_16915819delCA2608394738CUBNc.7210+2_7210+11del (n.7210+2_7210+11del)
c.3196+2_3196+11del (n.3196+2_3196+11del)
c.3172+2_3172+11del (n.3172+2_3172+11del)
c.3052+2_3052+11del (n.3052+2_3052+11del)
 gnomAD v4
10g.16915811_16915812insCTTTTCA2528518954CUBNc.7210+10_7210+11insAAAGA (n.7210+10_7210+11insAAAGA)
c.3196+10_3196+11insAAAGA (n.3196+10_3196+11insAAAGA)
c.3172+10_3172+11insAAAGA (n.3172+10_3172+11insAAAGA)
c.3052+10_3052+11insAAAGA (n.3052+10_3052+11insAAAGA)
10g.16915814delCA2608394739CUBNc.7210+10del (n.7210+10del)
c.3196+10del (n.3196+10del)
c.3172+10del (n.3172+10del)
c.3052+10del (n.3052+10del)
 gnomAD v4
10g.16915812T>CCA5423442CUBNc.7210+9A>G (n.7210+9A>G)
c.3196+9A>G (n.3196+9A>G)
c.3172+9A>G (n.3172+9A>G)
c.3052+9A>G (n.3052+9A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.16915812T=CA1893371468CUBNc.7210+9A= (n.7210+9A=)
c.3196+9A= (n.3196+9A=)
c.3172+9A= (n.3172+9A=)
c.3052+9A= (n.3052+9A=)
10g.16915813T>CCA2574500631CUBNc.7210+8A>G (n.7210+8A>G)
c.3196+8A>G (n.3196+8A>G)
c.3172+8A>G (n.3172+8A>G)
c.3052+8A>G (n.3052+8A>G)
10g.16915814T>CCA2608394740CUBNc.7210+7A>G (n.7210+7A>G)
c.3196+7A>G (n.3196+7A>G)
c.3172+7A>G (n.3172+7A>G)
c.3052+7A>G (n.3052+7A>G)
 gnomAD v4
10g.16915814_16915815insTTTTTAATGCA925385050CUBNc.7210+6_7210+7insCATTAAAAA (n.7210+6_7210+7insCATTAAAAA)
c.3196+6_3196+7insCATTAAAAA (n.3196+6_3196+7insCATTAAAAA)
c.3172+6_3172+7insCATTAAAAA (n.3172+6_3172+7insCATTAAAAA)
c.3052+6_3052+7insCATTAAAAA (n.3052+6_3052+7insCATTAAAAA)
10g.16915815A>GCA2608394741CUBNc.7210+6T>C (n.7210+6T>C)
c.3196+6T>C (n.3196+6T>C)
c.3172+6T>C (n.3172+6T>C)
c.3052+6T>C (n.3052+6T>C)
 gnomAD v4
10g.16915816delCA925385055CUBNc.7210+5del (n.7210+5del)
c.3196+5del (n.3196+5del)
c.3172+5del (n.3172+5del)
c.3052+5del (n.3052+5del)
10g.16915816C>ACA2535085007CUBNc.7210+5G>T (n.7210+5G>T)
c.3196+5G>T (n.3196+5G>T)
c.3172+5G>T (n.3172+5G>T)
c.3052+5G>T (n.3052+5G>T)
10g.16915817T>CCA2608394742CUBNc.7210+4A>G (n.7210+4A>G)
c.3196+4A>G (n.3196+4A>G)
c.3172+4A>G (n.3172+4A>G)
c.3052+4A>G (n.3052+4A>G)
 gnomAD v4
10g.16915817_16915818insGCA2501008691CUBNc.7210+3_7210+4insC (n.7210+3_7210+4insC)
c.3196+3_3196+4insC (n.3196+3_3196+4insC)
c.3172+3_3172+4insC (n.3172+3_3172+4insC)
c.3052+3_3052+4insC (n.3052+3_3052+4insC)
10g.16915818_16915819insCGGCGCA925385061CUBNc.7210+2_7210+3insCGCCG (n.7210+2_7210+3insCGCCG)
c.3196+2_3196+3insCGCCG (n.3196+2_3196+3insCGCCG)
c.3172+2_3172+3insCGCCG (n.3172+2_3172+3insCGCCG)
c.3052+2_3052+3insCGCCG (n.3052+2_3052+3insCGCCG)
10g.16915818_16915819insTACGGCGCA2516448443CUBNc.7210+2_7210+3insCGCCGTA (n.7210+2_7210+3insCGCCGTA)
c.3196+2_3196+3insCGCCGTA (n.3196+2_3196+3insCGCCGTA)
c.3172+2_3172+3insCGCCGTA (n.3172+2_3172+3insCGCCGTA)
c.3052+2_3052+3insCGCCGTA (n.3052+2_3052+3insCGCCGTA)
10g.16915819A>CCA376145893CUBNc.7210+2T>G (n.7210+2T>G)
c.3196+2T>G (n.3196+2T>G)
c.3172+2T>G (n.3172+2T>G)
c.3052+2T>G (n.3052+2T>G)
10g.16915819A>GCA376145890CUBNc.7210+2T>C (n.7210+2T>C)
c.3196+2T>C (n.3196+2T>C)
c.3172+2T>C (n.3172+2T>C)
c.3052+2T>C (n.3052+2T>C)
10g.16915819A>TCA376145888CUBNc.7210+2T>A (n.7210+2T>A)
c.3196+2T>A (n.3196+2T>A)
c.3172+2T>A (n.3172+2T>A)
c.3052+2T>A (n.3052+2T>A)
10g.16915820C>ACA376145897CUBNc.7210+1G>T (n.7210+1G>T)
c.3196+1G>T (n.3196+1G>T)
c.3172+1G>T (n.3172+1G>T)
c.3052+1G>T (n.3052+1G>T)
10g.16915820C>GCA376145899CUBNc.7210+1G>C (n.7210+1G>C)
c.3196+1G>C (n.3196+1G>C)
c.3172+1G>C (n.3172+1G>C)
c.3052+1G>C (n.3052+1G>C)
10g.16915820C>TCA376145902CUBNc.7210+1G>A (n.7210+1G>A)
c.3196+1G>A (n.3196+1G>A)
c.3172+1G>A (n.3172+1G>A)
c.3052+1G>A (n.3052+1G>A)
 gnomAD v4
10g.16915821C>ACA376145905CUBNc.7210G>T (p.Gly2404Ter)
c.3196G>T (p.Gly1066Ter)
c.3172G>T (p.Gly1058Ter)
c.3052G>T (p.Gly1018Ter)
10g.16915821C=CA1893371469CUBNc.7210G= (p.Gly2404=)
c.3196G= (p.Gly1066=)
c.3172G= (p.Gly1058=)
c.3052G= (p.Gly1018=)
10g.16915821C>GCA376145907CUBNc.7210G>C (p.Gly2404Arg)
c.3196G>C (p.Gly1066Arg)
c.3172G>C (p.Gly1058Arg)
c.3052G>C (p.Gly1018Arg)
10g.16915821C>TCA5423443CUBNc.7210G>A (p.Gly2404Arg)
c.3196G>A (p.Gly1066Arg)
c.3172G>A (p.Gly1058Arg)
c.3052G>A (p.Gly1018Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.16915822A>CCA468301635CUBNc.7209T>G (p.Ser2403=)
c.3195T>G (p.Ser1065=)
c.3171T>G (p.Ser1057=)
c.3051T>G (p.Ser1017=)
10g.16915822A>GCA468301636CUBNc.7209T>C (p.Ser2403=)
c.3195T>C (p.Ser1065=)
c.3171T>C (p.Ser1057=)
c.3051T>C (p.Ser1017=)
10g.16915822A>TCA468301638CUBNc.7209T>A (p.Ser2403=)
c.3195T>A (p.Ser1065=)
c.3171T>A (p.Ser1057=)
c.3051T>A (p.Ser1017=)
10g.16915823G>ACA376145910CUBNc.7208C>T (p.Ser2403Phe)
c.3194C>T (p.Ser1065Phe)
c.3170C>T (p.Ser1057Phe)
c.3050C>T (p.Ser1017Phe)
10g.16915823G>CCA376145913CUBNc.7208C>G (p.Ser2403Cys)
c.3194C>G (p.Ser1065Cys)
c.3170C>G (p.Ser1057Cys)
c.3050C>G (p.Ser1017Cys)
10g.16915823G>TCA376145915CUBNc.7208C>A (p.Ser2403Tyr)
c.3194C>A (p.Ser1065Tyr)
c.3170C>A (p.Ser1057Tyr)
c.3050C>A (p.Ser1017Tyr)
10g.16915823_16915835delCA2530630058CUBNc.7196_7208del (p.Asp2399ValfsTer17)
c.3182_3194del (p.Asp1061ValfsTer17)
c.3158_3170del (p.Asp1053ValfsTer17)
c.3038_3050del (p.Asp1013ValfsTer17)
10g.16915824A>CCA376145919CUBNc.7207T>G (p.Ser2403Ala)
c.3193T>G (p.Ser1065Ala)
c.3169T>G (p.Ser1057Ala)
c.3049T>G (p.Ser1017Ala)
10g.16915824A>GCA376145921CUBNc.7207T>C (p.Ser2403Pro)
c.3193T>C (p.Ser1065Pro)
c.3169T>C (p.Ser1057Pro)
c.3049T>C (p.Ser1017Pro)
 COSMIC
10g.16915824A>TCA376145923CUBNc.7207T>A (p.Ser2403Thr)
c.3193T>A (p.Ser1065Thr)
c.3169T>A (p.Ser1057Thr)
c.3049T>A (p.Ser1017Thr)
10g.16915825G>ACA468301639CUBNc.7206C>T (p.Thr2402=)
c.3192C>T (p.Thr1064=)
c.3168C>T (p.Thr1056=)
c.3048C>T (p.Thr1016=)
10g.16915825G>CCA468301640CUBNc.7206C>G (p.Thr2402=)
c.3192C>G (p.Thr1064=)
c.3168C>G (p.Thr1056=)
c.3048C>G (p.Thr1016=)
10g.16915825G>TCA468301641CUBNc.7206C>A (p.Thr2402=)
c.3192C>A (p.Thr1064=)
c.3168C>A (p.Thr1056=)
c.3048C>A (p.Thr1016=)
10g.16915826G>ACA376145927CUBNc.7205C>T (p.Thr2402Ile)
c.3191C>T (p.Thr1064Ile)
c.3167C>T (p.Thr1056Ile)
c.3047C>T (p.Thr1016Ile)
10g.16915826G>CCA376145931CUBNc.7205C>G (p.Thr2402Ser)
c.3191C>G (p.Thr1064Ser)
c.3167C>G (p.Thr1056Ser)
c.3047C>G (p.Thr1016Ser)
10g.16915826G>TCA376145925CUBNc.7205C>A (p.Thr2402Asn)
c.3191C>A (p.Thr1064Asn)
c.3167C>A (p.Thr1056Asn)
c.3047C>A (p.Thr1016Asn)
10g.16915827T>ACA376145933CUBNc.7204A>T (p.Thr2402Ser)
c.3190A>T (p.Thr1064Ser)
c.3166A>T (p.Thr1056Ser)
c.3046A>T (p.Thr1016Ser)
10g.16915827T>CCA376145935CUBNc.7204A>G (p.Thr2402Ala)
c.3190A>G (p.Thr1064Ala)
c.3166A>G (p.Thr1056Ala)
c.3046A>G (p.Thr1016Ala)
 gnomAD v4
10g.16915827T>GCA376145938CUBNc.7204A>C (p.Thr2402Pro)
c.3190A>C (p.Thr1064Pro)
c.3166A>C (p.Thr1056Pro)
c.3046A>C (p.Thr1016Pro)
10g.16915828A>CCA376145941CUBNc.7203T>G (p.His2401Gln)
c.3189T>G (p.His1063Gln)
c.3165T>G (p.His1055Gln)
c.3045T>G (p.His1015Gln)
10g.16915828A>GCA468301643CUBNc.7203T>C (p.His2401=)
c.3189T>C (p.His1063=)
c.3165T>C (p.His1055=)
c.3045T>C (p.His1015=)
10g.16915828A>TCA376145942CUBNc.7203T>A (p.His2401Gln)
c.3189T>A (p.His1063Gln)
c.3165T>A (p.His1055Gln)
c.3045T>A (p.His1015Gln)
10g.16915829T>ACA376145949CUBNc.7202A>T (p.His2401Leu)
c.3188A>T (p.His1063Leu)
c.3164A>T (p.His1055Leu)
c.3044A>T (p.His1015Leu)
10g.16915829T>CCA5423444CUBNc.7202A>G (p.His2401Arg)
c.3188A>G (p.His1063Arg)
c.3164A>G (p.His1055Arg)
c.3044A>G (p.His1015Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.16915829T>GCA376145946CUBNc.7202A>C (p.His2401Pro)
c.3188A>C (p.His1063Pro)
c.3164A>C (p.His1055Pro)
c.3044A>C (p.His1015Pro)
10g.16915829T=CA1893371470CUBNc.7202A= (p.His2401=)
c.3188A= (p.His1063=)
c.3164A= (p.His1055=)
c.3044A= (p.His1015=)
10g.16915830G>ACA376145952CUBNc.7201C>T (p.His2401Tyr)
c.3187C>T (p.His1063Tyr)
c.3163C>T (p.His1055Tyr)
c.3043C>T (p.His1015Tyr)
10g.16915830G>CCA376145954CUBNc.7201C>G (p.His2401Asp)
c.3187C>G (p.His1063Asp)
c.3163C>G (p.His1055Asp)
c.3043C>G (p.His1015Asp)
10g.16915830G>TCA376145957CUBNc.7201C>A (p.His2401Asn)
c.3187C>A (p.His1063Asn)
c.3163C>A (p.His1055Asn)
c.3043C>A (p.His1015Asn)
10g.16915831A>CCA376145959CUBNc.7200T>G (p.Asn2400Lys)
c.3186T>G (p.Asn1062Lys)
c.3162T>G (p.Asn1054Lys)
c.3042T>G (p.Asn1014Lys)
10g.16915831A>GCA468301645CUBNc.7200T>C (p.Asn2400=)
c.3186T>C (p.Asn1062=)
c.3162T>C (p.Asn1054=)
c.3042T>C (p.Asn1014=)
 gnomAD v4
10g.16915831A>TCA376145963CUBNc.7200T>A (p.Asn2400Lys)
c.3186T>A (p.Asn1062Lys)
c.3162T>A (p.Asn1054Lys)
c.3042T>A (p.Asn1014Lys)
10g.16915832T>ACA376145970CUBNc.7199A>T (p.Asn2400Ile)
c.3185A>T (p.Asn1062Ile)
c.3161A>T (p.Asn1054Ile)
c.3041A>T (p.Asn1014Ile)
10g.16915832T>CCA203569547CUBNc.7199A>G (p.Asn2400Ser)
c.3185A>G (p.Asn1062Ser)
c.3161A>G (p.Asn1054Ser)
c.3041A>G (p.Asn1014Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.16915832T>GCA376145968CUBNc.7199A>C (p.Asn2400Thr)
c.3185A>C (p.Asn1062Thr)
c.3161A>C (p.Asn1054Thr)
c.3041A>C (p.Asn1014Thr)
10g.16915832T=CA1893371471CUBNc.7199A= (p.Asn2400=)
c.3185A= (p.Asn1062=)
c.3161A= (p.Asn1054=)
c.3041A= (p.Asn1014=)
10g.16915833T>ACA376145972CUBNc.7198A>T (p.Asn2400Tyr)
c.3184A>T (p.Asn1062Tyr)
c.3160A>T (p.Asn1054Tyr)
c.3040A>T (p.Asn1014Tyr)
10g.16915833T>CCA376145976CUBNc.7198A>G (p.Asn2400Asp)
c.3184A>G (p.Asn1062Asp)
c.3160A>G (p.Asn1054Asp)
c.3040A>G (p.Asn1014Asp)
10g.16915833T>GCA376145973CUBNc.7198A>C (p.Asn2400His)
c.3184A>C (p.Asn1062His)
c.3160A>C (p.Asn1054His)
c.3040A>C (p.Asn1014His)
10g.16915834G>ACA468301649CUBNc.7197C>T (p.Asp2399=)
c.3183C>T (p.Asp1061=)
c.3159C>T (p.Asp1053=)
c.3039C>T (p.Asp1013=)
10g.16915834G>CCA376145980CUBNc.7197C>G (p.Asp2399Glu)
c.3183C>G (p.Asp1061Glu)
c.3159C>G (p.Asp1053Glu)
c.3039C>G (p.Asp1013Glu)
10g.16915834G>TCA376145982CUBNc.7197C>A (p.Asp2399Glu)
c.3183C>A (p.Asp1061Glu)
c.3159C>A (p.Asp1053Glu)
c.3039C>A (p.Asp1013Glu)
 dbSNP
10g.16915835T>ACA203569564CUBNc.7196A>T (p.Asp2399Val)
c.3182A>T (p.Asp1061Val)
c.3158A>T (p.Asp1053Val)
c.3038A>T (p.Asp1013Val)
 dbSNP gnomAD v4
10g.16915835T>CCA376145985CUBNc.7196A>G (p.Asp2399Gly)
c.3182A>G (p.Asp1061Gly)
c.3158A>G (p.Asp1053Gly)
c.3038A>G (p.Asp1013Gly)
10g.16915835T>GCA376145988CUBNc.7196A>C (p.Asp2399Ala)
c.3182A>C (p.Asp1061Ala)
c.3158A>C (p.Asp1053Ala)
c.3038A>C (p.Asp1013Ala)
10g.16915835T=CA1893371472CUBNc.7196A= (p.Asp2399=)
c.3182A= (p.Asp1061=)
c.3158A= (p.Asp1053=)
c.3038A= (p.Asp1013=)
10g.16915835_16915836delinsTCCA1893371473CUBNc.7195_7196delinsGA (p.Asp2399=)
c.3181_3182delinsGA (p.Asp1061=)
c.3157_3158delinsGA (p.Asp1053=)
c.3037_3038delinsGA (p.Asp1013=)
10g.16915836C>ACA376145995CUBNc.7195G>T (p.Asp2399Tyr)
c.3181G>T (p.Asp1061Tyr)
c.3157G>T (p.Asp1053Tyr)
c.3037G>T (p.Asp1013Tyr)
10g.16915836C=CA1893371474CUBNc.7195G= (p.Asp2399=)
c.3181G= (p.Asp1061=)
c.3157G= (p.Asp1053=)
c.3037G= (p.Asp1013=)
10g.16915836C>GCA376145993CUBNc.7195G>C (p.Asp2399His)
c.3181G>C (p.Asp1061His)
c.3157G>C (p.Asp1053His)
c.3037G>C (p.Asp1013His)
10g.16915836C>TCA376145991CUBNc.7195G>A (p.Asp2399Asn)
c.3181G>A (p.Asp1061Asn)
c.3157G>A (p.Asp1053Asn)
c.3037G>A (p.Asp1013Asn)
 dbSNP gnomAD v4
10g.16915838dupCA2574500633CUBNc.7195dup (p.Asp2399GlyfsTer19)
c.3181dup (p.Asp1061GlyfsTer19)
c.3157dup (p.Asp1053GlyfsTer19)
c.3037dup (p.Asp1013GlyfsTer19)
 gnomAD v4
10g.16915838delCA662304792CUBNc.7195del (p.Asp2399ThrfsTer21)
c.3181del (p.Asp1061ThrfsTer21)
c.3157del (p.Asp1053ThrfsTer21)
c.3037del (p.Asp1013ThrfsTer21)
 dbSNP
10g.16915837C>ACA376145999CUBNc.7194G>T (p.Trp2398Cys)
c.3180G>T (p.Trp1060Cys)
c.3156G>T (p.Trp1052Cys)
c.3036G>T (p.Trp1012Cys)
10g.16915837C>GCA376146001CUBNc.7194G>C (p.Trp2398Cys)
c.3180G>C (p.Trp1060Cys)
c.3156G>C (p.Trp1052Cys)
c.3036G>C (p.Trp1012Cys)
10g.16915837C>TCA376146003CUBNc.7194G>A (p.Trp2398Ter)
c.3180G>A (p.Trp1060Ter)
c.3156G>A (p.Trp1052Ter)
c.3036G>A (p.Trp1012Ter)
 gnomAD v4
10g.16915838C>ACA376146006CUBNc.7193G>T (p.Trp2398Leu)
c.3179G>T (p.Trp1060Leu)
c.3155G>T (p.Trp1052Leu)
c.3035G>T (p.Trp1012Leu)
10g.16915838C>GCA376146009CUBNc.7193G>C (p.Trp2398Ser)
c.3179G>C (p.Trp1060Ser)
c.3155G>C (p.Trp1052Ser)
c.3035G>C (p.Trp1012Ser)
10g.16915838C>TCA376146011CUBNc.7193G>A (p.Trp2398Ter)
c.3179G>A (p.Trp1060Ter)
c.3155G>A (p.Trp1052Ter)
c.3035G>A (p.Trp1012Ter)
10g.16915839A>CCA376146018CUBNc.7192T>G (p.Trp2398Gly)
c.3178T>G (p.Trp1060Gly)
c.3154T>G (p.Trp1052Gly)
c.3034T>G (p.Trp1012Gly)
10g.16915839A>GCA376146014CUBNc.7192T>C (p.Trp2398Arg)
c.3178T>C (p.Trp1060Arg)
c.3154T>C (p.Trp1052Arg)
c.3034T>C (p.Trp1012Arg)
 gnomAD v4
10g.16915839A>TCA376146016CUBNc.7192T>A (p.Trp2398Arg)
c.3178T>A (p.Trp1060Arg)
c.3154T>A (p.Trp1052Arg)
c.3034T>A (p.Trp1012Arg)
 gnomAD v4
10g.16915840G>ACA468301651CUBNc.7191C>T (p.Ile2397=)
c.3177C>T (p.Ile1059=)
c.3153C>T (p.Ile1051=)
c.3033C>T (p.Ile1011=)
10g.16915840G>CCA376146021CUBNc.7191C>G (p.Ile2397Met)
c.3177C>G (p.Ile1059Met)
c.3153C>G (p.Ile1051Met)
c.3033C>G (p.Ile1011Met)
 gnomAD v4
10g.16915840G>TCA468301652CUBNc.7191C>A (p.Ile2397=)
c.3177C>A (p.Ile1059=)
c.3153C>A (p.Ile1051=)
c.3033C>A (p.Ile1011=)
10g.16915841A>CCA376146023CUBNc.7190T>G (p.Ile2397Ser)
c.3176T>G (p.Ile1059Ser)
c.3152T>G (p.Ile1051Ser)
c.3032T>G (p.Ile1011Ser)
10g.16915841A>GCA376146024CUBNc.7190T>C (p.Ile2397Thr)
c.3176T>C (p.Ile1059Thr)
c.3152T>C (p.Ile1051Thr)
c.3032T>C (p.Ile1011Thr)
10g.16915841A>TCA376146025CUBNc.7190T>A (p.Ile2397Asn)
c.3176T>A (p.Ile1059Asn)
c.3152T>A (p.Ile1051Asn)
c.3032T>A (p.Ile1011Asn)
10g.16915842T>ACA376146026CUBNc.7189A>T (p.Ile2397Phe)
c.3175A>T (p.Ile1059Phe)
c.3151A>T (p.Ile1051Phe)
c.3031A>T (p.Ile1011Phe)
10g.16915842T>CCA376146029CUBNc.7189A>G (p.Ile2397Val)
c.3175A>G (p.Ile1059Val)
c.3151A>G (p.Ile1051Val)
c.3031A>G (p.Ile1011Val)
10g.16915842T>GCA376146031CUBNc.7189A>C (p.Ile2397Leu)
c.3175A>C (p.Ile1059Leu)
c.3151A>C (p.Ile1051Leu)
c.3031A>C (p.Ile1011Leu)
10g.16915843C>ACA5423445CUBNc.7188G>T (p.Glu2396Asp)
c.3174G>T (p.Glu1058Asp)
c.3150G>T (p.Glu1050Asp)
c.3030G>T (p.Glu1010Asp)
 dbSNP ExAC COSMIC
10g.16915843C=CA1893371475CUBNc.7188G= (p.Glu2396=)
c.3174G= (p.Glu1058=)
c.3150G= (p.Glu1050=)
c.3030G= (p.Glu1010=)
10g.16915843C>GCA376146035CUBNc.7188G>C (p.Glu2396Asp)
c.3174G>C (p.Glu1058Asp)
c.3150G>C (p.Glu1050Asp)
c.3030G>C (p.Glu1010Asp)
 gnomAD v4 COSMIC
10g.16915843C>TCA468301654CUBNc.7188G>A (p.Glu2396=)
c.3174G>A (p.Glu1058=)
c.3150G>A (p.Glu1050=)
c.3030G>A (p.Glu1010=)
10g.16915844T>ACA376146037CUBNc.7187A>T (p.Glu2396Val)
c.3173A>T (p.Glu1058Val)
c.3149A>T (p.Glu1050Val)
c.3029A>T (p.Glu1010Val)
10g.16915844T>CCA376146040CUBNc.7187A>G (p.Glu2396Gly)
c.3173A>G (p.Glu1058Gly)
c.3149A>G (p.Glu1050Gly)
c.3029A>G (p.Glu1010Gly)
10g.16915844T>GCA376146043CUBNc.7187A>C (p.Glu2396Ala)
c.3173A>C (p.Glu1058Ala)
c.3149A>C (p.Glu1050Ala)
c.3029A>C (p.Glu1010Ala)
10g.16915845C>ACA376146046CUBNc.7186G>T (p.Glu2396Ter)
c.3172G>T (p.Glu1058Ter)
c.3148G>T (p.Glu1050Ter)
c.3028G>T (p.Glu1010Ter)
 gnomAD v3 gnomAD v4
10g.16915845C>GCA376146050CUBNc.7186G>C (p.Glu2396Gln)
c.3172G>C (p.Glu1058Gln)
c.3148G>C (p.Glu1050Gln)
c.3028G>C (p.Glu1010Gln)
10g.16915845C>TCA376146047CUBNc.7186G>A (p.Glu2396Lys)
c.3172G>A (p.Glu1058Lys)
c.3148G>A (p.Glu1050Lys)
c.3028G>A (p.Glu1010Lys)
10g.16915846C>ACA468301655CUBNc.7185G>T (p.Val2395=)
c.3171G>T (p.Val1057=)
c.3147G>T (p.Val1049=)
c.3027G>T (p.Val1009=)
10g.16915846C>GCA468301657CUBNc.7185G>C (p.Val2395=)
c.3171G>C (p.Val1057=)
c.3147G>C (p.Val1049=)
c.3027G>C (p.Val1009=)
10g.16915846C>TCA468301658CUBNc.7185G>A (p.Val2395=)
c.3171G>A (p.Val1057=)
c.3147G>A (p.Val1049=)
c.3027G>A (p.Val1009=)
10g.16915847A=CA1893371477CUBNc.7184T= (p.Val2395=)
c.3170T= (p.Val1057=)
c.3146T= (p.Val1049=)
c.3026T= (p.Val1009=)
10g.16915847A>CCA376146053CUBNc.7184T>G (p.Val2395Gly)
c.3170T>G (p.Val1057Gly)
c.3146T>G (p.Val1049Gly)
c.3026T>G (p.Val1009Gly)
10g.16915847A>GCA376146054CUBNc.7184T>C (p.Val2395Ala)
c.3170T>C (p.Val1057Ala)
c.3146T>C (p.Val1049Ala)
c.3026T>C (p.Val1009Ala)
 dbSNP
10g.16915847A>TCA376146058CUBNc.7184T>A (p.Val2395Glu)
c.3170T>A (p.Val1057Glu)
c.3146T>A (p.Val1049Glu)
c.3026T>A (p.Val1009Glu)
10g.16915847_16915848delinsACCA1893371476CUBNc.7183_7184delinsGT (p.Val2395=)
c.3169_3170delinsGT (p.Val1057=)
c.3145_3146delinsGT (p.Val1049=)
c.3025_3026delinsGT (p.Val1009=)
10g.16915848delCA1893371478CUBNc.7183del (p.Val2395TrpfsTer25)
c.3169del (p.Val1057TrpfsTer25)
c.3145del (p.Val1049TrpfsTer25)
c.3025del (p.Val1009TrpfsTer25)
 dbSNP
10g.16915848C>ACA376146061CUBNc.7183G>T (p.Val2395Leu)
c.3169G>T (p.Val1057Leu)
c.3145G>T (p.Val1049Leu)
c.3025G>T (p.Val1009Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.16915848C=CA1893371479CUBNc.7183G= (p.Val2395=)
c.3169G= (p.Val1057=)
c.3145G= (p.Val1049=)
c.3025G= (p.Val1009=)
10g.16915848C>GCA376146063CUBNc.7183G>C (p.Val2395Leu)
c.3169G>C (p.Val1057Leu)
c.3145G>C (p.Val1049Leu)
c.3025G>C (p.Val1009Leu)
10g.16915848C>TCA203569567CUBNc.7183G>A (p.Val2395Met)
c.3169G>A (p.Val1057Met)
c.3145G>A (p.Val1049Met)
c.3025G>A (p.Val1009Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.16915849G>ACA5423446CUBNc.7182C>T (p.Phe2394=)
c.3168C>T (p.Phe1056=)
c.3144C>T (p.Phe1048=)
c.3024C>T (p.Phe1008=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.16915849G>CCA376146068CUBNc.7182C>G (p.Phe2394Leu)
c.3168C>G (p.Phe1056Leu)
c.3144C>G (p.Phe1048Leu)
c.3024C>G (p.Phe1008Leu)
10g.16915849G=CA1893371480CUBNc.7182C= (p.Phe2394=)
c.3168C= (p.Phe1056=)
c.3144C= (p.Phe1048=)
c.3024C= (p.Phe1008=)
10g.16915849G>TCA376146069CUBNc.7182C>A (p.Phe2394Leu)
c.3168C>A (p.Phe1056Leu)
c.3144C>A (p.Phe1048Leu)
c.3024C>A (p.Phe1008Leu)
10g.16915849_16915850delinsGACA1893371481CUBNc.7181_7182delinsTC (p.Phe2394=)
c.3167_3168delinsTC (p.Phe1056=)
c.3143_3144delinsTC (p.Phe1048=)
c.3023_3024delinsTC (p.Phe1008=)
10g.16915850A=CA1893371482CUBNc.7181T= (p.Phe2394=)
c.3167T= (p.Phe1056=)
c.3143T= (p.Phe1048=)
c.3023T= (p.Phe1008=)
10g.16915850A>CCA376146072CUBNc.7181T>G (p.Phe2394Cys)
c.3167T>G (p.Phe1056Cys)
c.3143T>G (p.Phe1048Cys)
c.3023T>G (p.Phe1008Cys)
10g.16915850A>GCA376146073CUBNc.7181T>C (p.Phe2394Ser)
c.3167T>C (p.Phe1056Ser)
c.3143T>C (p.Phe1048Ser)
c.3023T>C (p.Phe1008Ser)
 dbSNP
10g.16915850A>TCA376146076CUBNc.7181T>A (p.Phe2394Tyr)
c.3167T>A (p.Phe1056Tyr)
c.3143T>A (p.Phe1048Tyr)
c.3023T>A (p.Phe1008Tyr)
10g.16915851delCA662304823CUBNc.7181del (p.Phe2394SerfsTer26)
c.3167del (p.Phe1056SerfsTer26)
c.3143del (p.Phe1048SerfsTer26)
c.3023del (p.Phe1008SerfsTer26)
 dbSNP gnomAD v4
10g.16915851A>CCA376146086CUBNc.7180T>G (p.Phe2394Val)
c.3166T>G (p.Phe1056Val)
c.3142T>G (p.Phe1048Val)
c.3022T>G (p.Phe1008Val)
10g.16915851A>GCA376146079CUBNc.7180T>C (p.Phe2394Leu)
c.3166T>C (p.Phe1056Leu)
c.3142T>C (p.Phe1048Leu)
c.3022T>C (p.Phe1008Leu)
10g.16915851A>TCA376146083CUBNc.7180T>A (p.Phe2394Ile)
c.3166T>A (p.Phe1056Ile)
c.3142T>A (p.Phe1048Ile)
c.3022T>A (p.Phe1008Ile)
 gnomAD v4
10g.16915852G>ACA468301664CUBNc.7179C>T (p.Asp2393=)
c.3165C>T (p.Asp1055=)
c.3141C>T (p.Asp1047=)
c.3021C>T (p.Asp1007=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.16915852G>CCA376146088CUBNc.7179C>G (p.Asp2393Glu)
c.3165C>G (p.Asp1055Glu)
c.3141C>G (p.Asp1047Glu)
c.3021C>G (p.Asp1007Glu)
10g.16915852G=CA1893371483CUBNc.7179C= (p.Asp2393=)
c.3165C= (p.Asp1055=)
c.3141C= (p.Asp1047=)
c.3021C= (p.Asp1007=)
10g.16915852G>TCA376146091CUBNc.7179C>A (p.Asp2393Glu)
c.3165C>A (p.Asp1055Glu)
c.3141C>A (p.Asp1047Glu)
c.3021C>A (p.Asp1007Glu)
10g.16915853T>ACA376146093CUBNc.7178A>T (p.Asp2393Val)
c.3164A>T (p.Asp1055Val)
c.3140A>T (p.Asp1047Val)
c.3020A>T (p.Asp1007Val)
 dbSNP
10g.16915853T>CCA376146096CUBNc.7178A>G (p.Asp2393Gly)
c.3164A>G (p.Asp1055Gly)
c.3140A>G (p.Asp1047Gly)
c.3020A>G (p.Asp1007Gly)
10g.16915853T>GCA376146098CUBNc.7178A>C (p.Asp2393Ala)
c.3164A>C (p.Asp1055Ala)
c.3140A>C (p.Asp1047Ala)
c.3020A>C (p.Asp1007Ala)
 gnomAD v4
10g.16915853T=CA1893371484CUBNc.7178A= (p.Asp2393=)
c.3164A= (p.Asp1055=)
c.3140A= (p.Asp1047=)
c.3020A= (p.Asp1007=)
10g.16915854C>ACA376146102CUBNc.7177G>T (p.Asp2393Tyr)
c.3163G>T (p.Asp1055Tyr)
c.3139G>T (p.Asp1047Tyr)
c.3019G>T (p.Asp1007Tyr)
10g.16915854C>GCA376146104CUBNc.7177G>C (p.Asp2393His)
c.3163G>C (p.Asp1055His)
c.3139G>C (p.Asp1047His)
c.3019G>C (p.Asp1007His)
10g.16915854C>TCA376146106CUBNc.7177G>A (p.Asp2393Asn)
c.3163G>A (p.Asp1055Asn)
c.3139G>A (p.Asp1047Asn)
c.3019G>A (p.Asp1007Asn)
10g.16915855T>ACA376146108CUBNc.7176A>T (p.Lys2392Asn)
c.3162A>T (p.Lys1054Asn)
c.3138A>T (p.Lys1046Asn)
c.3018A>T (p.Lys1006Asn)
10g.16915855T>CCA203569576CUBNc.7176A>G (p.Lys2392=)
c.3162A>G (p.Lys1054=)
c.3138A>G (p.Lys1046=)
c.3018A>G (p.Lys1006=)
 dbSNP
10g.16915855T>GCA376146112CUBNc.7176A>C (p.Lys2392Asn)
c.3162A>C (p.Lys1054Asn)
c.3138A>C (p.Lys1046Asn)
c.3018A>C (p.Lys1006Asn)
 gnomAD v4
10g.16915855T=CA1893371485CUBNc.7176A= (p.Lys2392=)
c.3162A= (p.Lys1054=)
c.3138A= (p.Lys1046=)
c.3018A= (p.Lys1006=)
10g.16915856T>ACA376146118CUBNc.7175A>T (p.Lys2392Ile)
c.3161A>T (p.Lys1054Ile)
c.3137A>T (p.Lys1046Ile)
c.3017A>T (p.Lys1006Ile)
10g.16915856T>CCA376146116CUBNc.7175A>G (p.Lys2392Arg)
c.3161A>G (p.Lys1054Arg)
c.3137A>G (p.Lys1046Arg)
c.3017A>G (p.Lys1006Arg)
10g.16915856T>GCA376146114CUBNc.7175A>C (p.Lys2392Thr)
c.3161A>C (p.Lys1054Thr)
c.3137A>C (p.Lys1046Thr)
c.3017A>C (p.Lys1006Thr)
10g.16915857T>ACA376146125CUBNc.7174A>T (p.Lys2392Ter)
c.3160A>T (p.Lys1054Ter)
c.3136A>T (p.Lys1046Ter)
c.3016A>T (p.Lys1006Ter)
10g.16915857T>CCA376146121CUBNc.7174A>G (p.Lys2392Glu)
c.3160A>G (p.Lys1054Glu)
c.3136A>G (p.Lys1046Glu)
c.3016A>G (p.Lys1006Glu)
10g.16915857T>GCA376146123CUBNc.7174A>C (p.Lys2392Gln)
c.3160A>C (p.Lys1054Gln)
c.3136A>C (p.Lys1046Gln)
c.3016A>C (p.Lys1006Gln)
10g.16915858T>ACA376146128CUBNc.7173A>T (p.Glu2391Asp)
c.3159A>T (p.Glu1053Asp)
c.3135A>T (p.Glu1045Asp)
c.3015A>T (p.Glu1005Asp)
10g.16915858T>CCA468301668CUBNc.7173A>G (p.Glu2391=)
c.3159A>G (p.Glu1053=)
c.3135A>G (p.Glu1045=)
c.3015A>G (p.Glu1005=)
10g.16915858T>GCA376146129CUBNc.7173A>C (p.Glu2391Asp)
c.3159A>C (p.Glu1053Asp)
c.3135A>C (p.Glu1045Asp)
c.3015A>C (p.Glu1005Asp)
10g.16915859T>ACA376146132CUBNc.7172A>T (p.Glu2391Val)
c.3158A>T (p.Glu1053Val)
c.3134A>T (p.Glu1045Val)
c.3014A>T (p.Glu1005Val)
10g.16915859T>CCA376146134CUBNc.7172A>G (p.Glu2391Gly)
c.3158A>G (p.Glu1053Gly)
c.3134A>G (p.Glu1045Gly)
c.3014A>G (p.Glu1005Gly)
10g.16915859T>GCA376146137CUBNc.7172A>C (p.Glu2391Ala)
c.3158A>C (p.Glu1053Ala)
c.3134A>C (p.Glu1045Ala)
c.3014A>C (p.Glu1005Ala)
10g.16915860C>ACA376146142CUBNc.7171G>T (p.Glu2391Ter)
c.3157G>T (p.Glu1053Ter)
c.3133G>T (p.Glu1045Ter)
c.3013G>T (p.Glu1005Ter)
 COSMIC
10g.16915860C=CA1893371486CUBNc.7171G= (p.Glu2391=)
c.3157G= (p.Glu1053=)
c.3133G= (p.Glu1045=)
c.3013G= (p.Glu1005=)
10g.16915860C>GCA376146139CUBNc.7171G>C (p.Glu2391Gln)
c.3157G>C (p.Glu1053Gln)
c.3133G>C (p.Glu1045Gln)
c.3013G>C (p.Glu1005Gln)
10g.16915860C>TCA376146141CUBNc.7171G>A (p.Glu2391Lys)
c.3157G>A (p.Glu1053Lys)
c.3133G>A (p.Glu1045Lys)
c.3013G>A (p.Glu1005Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.16915861A>CCA376146144CUBNc.7170T>G (p.Cys2390Trp)
c.3156T>G (p.Cys1052Trp)
c.3132T>G (p.Cys1044Trp)
c.3012T>G (p.Cys1004Trp)
10g.16915861A>GCA468301672CUBNc.7170T>C (p.Cys2390=)
c.3156T>C (p.Cys1052=)
c.3132T>C (p.Cys1044=)
c.3012T>C (p.Cys1004=)
10g.16915861A>TCA376146147CUBNc.7170T>A (p.Cys2390Ter)
c.3156T>A (p.Cys1052Ter)
c.3132T>A (p.Cys1044Ter)
c.3012T>A (p.Cys1004Ter)
10g.16915862C>ACA376146151CUBNc.7169G>T (p.Cys2390Phe)
c.3155G>T (p.Cys1052Phe)
c.3131G>T (p.Cys1044Phe)
c.3011G>T (p.Cys1004Phe)
10g.16915862C>GCA376146154CUBNc.7169G>C (p.Cys2390Ser)
c.3155G>C (p.Cys1052Ser)
c.3131G>C (p.Cys1044Ser)
c.3011G>C (p.Cys1004Ser)
 gnomAD v4
10g.16915862C>TCA376146156CUBNc.7169G>A (p.Cys2390Tyr)
c.3155G>A (p.Cys1052Tyr)
c.3131G>A (p.Cys1044Tyr)
c.3011G>A (p.Cys1004Tyr)
10g.16915863A>CCA376146159CUBNc.7168T>G (p.Cys2390Gly)
c.3154T>G (p.Cys1052Gly)
c.3130T>G (p.Cys1044Gly)
c.3010T>G (p.Cys1004Gly)
10g.16915863A>GCA376146164CUBNc.7168T>C (p.Cys2390Arg)
c.3154T>C (p.Cys1052Arg)
c.3130T>C (p.Cys1044Arg)
c.3010T>C (p.Cys1004Arg)
10g.16915863A>TCA376146161CUBNc.7168T>A (p.Cys2390Ser)
c.3154T>A (p.Cys1052Ser)
c.3130T>A (p.Cys1044Ser)
c.3010T>A (p.Cys1004Ser)
10g.16915864G>ACA468301678CUBNc.7167C>T (p.Gly2389=)
c.3153C>T (p.Gly1051=)
c.3129C>T (p.Gly1043=)
c.3009C>T (p.Gly1003=)
10g.16915864G>CCA468301677CUBNc.7167C>G (p.Gly2389=)
c.3153C>G (p.Gly1051=)
c.3129C>G (p.Gly1043=)
c.3009C>G (p.Gly1003=)
10g.16915864G>TCA468301676CUBNc.7167C>A (p.Gly2389=)
c.3153C>A (p.Gly1051=)
c.3129C>A (p.Gly1043=)
c.3009C>A (p.Gly1003=)
10g.16915865C>ACA5423447CUBNc.7166G>T (p.Gly2389Val)
c.3152G>T (p.Gly1051Val)
c.3128G>T (p.Gly1043Val)
c.3008G>T (p.Gly1003Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.16915865C=CA1893371487CUBNc.7166G= (p.Gly2389=)
c.3152G= (p.Gly1051=)
c.3128G= (p.Gly1043=)
c.3008G= (p.Gly1003=)
10g.16915865C>GCA376146169CUBNc.7166G>C (p.Gly2389Ala)
c.3152G>C (p.Gly1051Ala)
c.3128G>C (p.Gly1043Ala)
c.3008G>C (p.Gly1003Ala)
10g.16915865C>TCA376146170CUBNc.7166G>A (p.Gly2389Asp)
c.3152G>A (p.Gly1051Asp)
c.3128G>A (p.Gly1043Asp)
c.3008G>A (p.Gly1003Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.16915866C>ACA376146174CUBNc.7165G>T (p.Gly2389Cys)
c.3151G>T (p.Gly1051Cys)
c.3127G>T (p.Gly1043Cys)
c.3007G>T (p.Gly1003Cys)
10g.16915866C>GCA376146177CUBNc.7165G>C (p.Gly2389Arg)
c.3151G>C (p.Gly1051Arg)
c.3127G>C (p.Gly1043Arg)
c.3007G>C (p.Gly1003Arg)
10g.16915866C>TCA376146179CUBNc.7165G>A (p.Gly2389Ser)
c.3151G>A (p.Gly1051Ser)
c.3127G>A (p.Gly1043Ser)
c.3007G>A (p.Gly1003Ser)
10g.16915866_16915869delinsCAGACA1893371488CUBNc.7162_7165delinsTCTG (p.Ser2388=)
c.3148_3151delinsTCTG (p.Ser1050=)
c.3124_3127delinsTCTG (p.Ser1042=)
c.3004_3007delinsTCTG (p.Ser1002=)
10g.16915867A>CCA468301679CUBNc.7164T>G (p.Ser2388=)
c.3150T>G (p.Ser1050=)
c.3126T>G (p.Ser1042=)
c.3006T>G (p.Ser1002=)
10g.16915867A>GCA468301681CUBNc.7164T>C (p.Ser2388=)
c.3150T>C (p.Ser1050=)
c.3126T>C (p.Ser1042=)
c.3006T>C (p.Ser1002=)
10g.16915867A>TCA468301680CUBNc.7164T>A (p.Ser2388=)
c.3150T>A (p.Ser1050=)
c.3126T>A (p.Ser1042=)
c.3006T>A (p.Ser1002=)
10g.16915871_16915873delCA592313347CUBNc.7162_7164del (p.Ser2388del)
c.3148_3150del (p.Ser1050del)
c.3124_3126del (p.Ser1042del)
c.3004_3006del (p.Ser1002del)
 dbSNP gnomAD v2 gnomAD v4
10g.16915868G>ACA5423448CUBNc.7163C>T (p.Ser2388Phe)
c.3149C>T (p.Ser1050Phe)
c.3125C>T (p.Ser1042Phe)
c.3005C>T (p.Ser1002Phe)
 dbSNP ExAC gnomAD v2
10g.16915868G>CCA376146184CUBNc.7163C>G (p.Ser2388Cys)
c.3149C>G (p.Ser1050Cys)
c.3125C>G (p.Ser1042Cys)
c.3005C>G (p.Ser1002Cys)
10g.16915868G=CA1893371489CUBNc.7163C= (p.Ser2388=)
c.3149C= (p.Ser1050=)
c.3125C= (p.Ser1042=)
c.3005C= (p.Ser1002=)
10g.16915868G>TCA376146186CUBNc.7163C>A (p.Ser2388Tyr)
c.3149C>A (p.Ser1050Tyr)
c.3125C>A (p.Ser1042Tyr)
c.3005C>A (p.Ser1002Tyr)
10g.16915869A>CCA376146189CUBNc.7162T>G (p.Ser2388Ala)
c.3148T>G (p.Ser1050Ala)
c.3124T>G (p.Ser1042Ala)
c.3004T>G (p.Ser1002Ala)
10g.16915869A>GCA376146192CUBNc.7162T>C (p.Ser2388Pro)
c.3148T>C (p.Ser1050Pro)
c.3124T>C (p.Ser1042Pro)
c.3004T>C (p.Ser1002Pro)
10g.16915869A>TCA376146193CUBNc.7162T>A (p.Ser2388Thr)
c.3148T>A (p.Ser1050Thr)
c.3124T>A (p.Ser1042Thr)
c.3004T>A (p.Ser1002Thr)

Number of alleles fetched