Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.120810417G>A | CA4453877 | TSPAN12 | c.468+46C>T (n.468+46C>T) c.447+46C>T (n.447+46C>T) c.393+46C>T (n.393+46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810417G= | CA1738860508 | TSPAN12 | c.468+46C= (n.468+46C=) c.447+46C= (n.447+46C=) c.393+46C= (n.393+46C=) | |
7 | g.120810417G>T | CA2684641742 | TSPAN12 | c.468+46C>A (n.468+46C>A) c.447+46C>A (n.447+46C>A) c.393+46C>A (n.393+46C>A) | gnomAD v4 |
7 | g.120810418C>A | CA4453878 | TSPAN12 | c.468+45G>T (n.468+45G>T) c.447+45G>T (n.447+45G>T) c.393+45G>T (n.393+45G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810418C= | CA1738860510 | TSPAN12 | c.468+45G= (n.468+45G=) c.447+45G= (n.447+45G=) c.393+45G= (n.393+45G=) | |
7 | g.120810419A= | CA1738860512 | TSPAN12 | c.468+44T= (n.468+44T=) c.447+44T= (n.447+44T=) c.393+44T= (n.393+44T=) | |
7 | g.120810419A>C | CA2684641743 | TSPAN12 | c.468+44T>G (n.468+44T>G) c.447+44T>G (n.447+44T>G) c.393+44T>G (n.393+44T>G) | gnomAD v4 |
7 | g.120810419A>G | CA4453879 | TSPAN12 | c.468+44T>C (n.468+44T>C) c.447+44T>C (n.447+44T>C) c.393+44T>C (n.393+44T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.120810420C>T | CA2579001808 | TSPAN12 | c.468+43G>A (n.468+43G>A) c.447+43G>A (n.447+43G>A) c.393+43G>A (n.393+43G>A) | gnomAD v4 |
7 | g.120810421C= | CA1738860515 | TSPAN12 | c.468+42G= (n.468+42G=) c.447+42G= (n.447+42G=) c.393+42G= (n.393+42G=) | |
7 | g.120810421C>T | CA4453880 | TSPAN12 | c.468+42G>A (n.468+42G>A) c.447+42G>A (n.447+42G>A) c.393+42G>A (n.393+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.120810422A= | CA1738860518 | TSPAN12 | c.468+41T= (n.468+41T=) c.447+41T= (n.447+41T=) c.393+41T= (n.393+41T=) | |
7 | g.120810422A>C | CA2579001809 | TSPAN12 | c.468+41T>G (n.468+41T>G) c.447+41T>G (n.447+41T>G) c.393+41T>G (n.393+41T>G) | |
7 | g.120810422A>G | CA4453881 | TSPAN12 | c.468+41T>C (n.468+41T>C) c.447+41T>C (n.447+41T>C) c.393+41T>C (n.393+41T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.120810422A>T | CA2579001810 | TSPAN12 | c.468+41T>A (n.468+41T>A) c.447+41T>A (n.447+41T>A) c.393+41T>A (n.393+41T>A) | gnomAD v4 |
7 | g.120810425T>C | CA2684641744 | TSPAN12 | c.468+38A>G (n.468+38A>G) c.447+38A>G (n.447+38A>G) c.393+38A>G (n.393+38A>G) | gnomAD v4 |
7 | g.120810426A= | CA1738860522 | TSPAN12 | c.468+37T= (n.468+37T=) c.447+37T= (n.447+37T=) c.393+37T= (n.393+37T=) | |
7 | g.120810426A>G | CA4453882 | TSPAN12 | c.468+37T>C (n.468+37T>C) c.447+37T>C (n.447+37T>C) c.393+37T>C (n.393+37T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810426A>T | CA2579001811 | TSPAN12 | c.468+37T>A (n.468+37T>A) c.447+37T>A (n.447+37T>A) c.393+37T>A (n.393+37T>A) | gnomAD v4 |
7 | g.120810427C>A | CA577566202 | TSPAN12 | c.468+36G>T (n.468+36G>T) c.447+36G>T (n.447+36G>T) c.393+36G>T (n.393+36G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810427C= | CA1738860525 | TSPAN12 | c.468+36G= (n.468+36G=) c.447+36G= (n.447+36G=) c.393+36G= (n.393+36G=) | |
7 | g.120810427C>T | CA4453883 | TSPAN12 | c.468+36G>A (n.468+36G>A) c.447+36G>A (n.447+36G>A) c.393+36G>A (n.393+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.120810428T>C | CA2579001812 | TSPAN12 | c.468+35A>G (n.468+35A>G) c.447+35A>G (n.447+35A>G) c.393+35A>G (n.393+35A>G) | gnomAD v4 |
7 | g.120810428T>G | CA2579001813 | TSPAN12 | c.468+35A>C (n.468+35A>C) c.447+35A>C (n.447+35A>C) c.393+35A>C (n.393+35A>C) | |
7 | g.120810430C>A | CA4453885 | TSPAN12 | c.468+33G>T (n.468+33G>T) c.447+33G>T (n.447+33G>T) c.393+33G>T (n.393+33G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810430C= | CA1738860529 | TSPAN12 | c.468+33G= (n.468+33G=) c.447+33G= (n.447+33G=) c.393+33G= (n.393+33G=) | |
7 | g.120810430C>T | CA4453884 | TSPAN12 | c.468+33G>A (n.468+33G>A) c.447+33G>A (n.447+33G>A) c.393+33G>A (n.393+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810431_120810432del | CA2579001814 | TSPAN12 | c.468+32_468+33del (n.468+32_468+33del) c.447+32_447+33del (n.447+32_447+33del) c.393+32_393+33del (n.393+32_393+33del) | |
7 | g.120810430_120810431insTCTTACTTCTGAGGT | CA1738860532 | TSPAN12 | c.468+32_468+33insACCTCAGAAGTAAGA (n.468+32_468+33insACCTCAGAAGTAAGA) c.447+32_447+33insACCTCAGAAGTAAGA (n.447+32_447+33insACCTCAGAAGTAAGA) c.393+32_393+33insACCTCAGAAGTAAGA (n.393+32_393+33insACCTCAGAAGTAAGA) | dbSNP gnomAD v4 |
7 | g.120810431A>G | CA2684641745 | TSPAN12 | c.468+32T>C (n.468+32T>C) c.447+32T>C (n.447+32T>C) c.393+32T>C (n.393+32T>C) | gnomAD v4 |
7 | g.120810431A>T | CA2579001815 | TSPAN12 | c.468+32T>A (n.468+32T>A) c.447+32T>A (n.447+32T>A) c.393+32T>A (n.393+32T>A) | gnomAD v4 |
7 | g.120810431_120810435delinsACTCT | CA1738860533 | TSPAN12 | c.468+28_468+32delinsAGAGT (n.468+28_468+32delinsAGAGT) c.447+28_447+32delinsAGAGT (n.447+28_447+32delinsAGAGT) c.393+28_393+32delinsAGAGT (n.393+28_393+32delinsAGAGT) | |
7 | g.120810432C>A | CA2579001816 | TSPAN12 | c.468+31G>T (n.468+31G>T) c.447+31G>T (n.447+31G>T) c.393+31G>T (n.393+31G>T) | gnomAD v4 |
7 | g.120810432C= | CA1738860538 | TSPAN12 | c.468+31G= (n.468+31G=) c.447+31G= (n.447+31G=) c.393+31G= (n.393+31G=) | |
7 | g.120810432C>T | CA4453886 | TSPAN12 | c.468+31G>A (n.468+31G>A) c.447+31G>A (n.447+31G>A) c.393+31G>A (n.393+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.120810438_120810439del | CA577566207 | TSPAN12 | c.468+30_468+31del (n.468+30_468+31del) c.447+30_447+31del (n.447+30_447+31del) c.393+30_393+31del (n.393+30_393+31del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.120810436_120810439del | CA577566206 | TSPAN12 | c.468+28_468+31del (n.468+28_468+31del) c.447+28_447+31del (n.447+28_447+31del) c.393+28_393+31del (n.393+28_393+31del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.120810434C>A | CA2684641747 | TSPAN12 | c.468+29G>T (n.468+29G>T) c.447+29G>T (n.447+29G>T) c.393+29G>T (n.393+29G>T) | gnomAD v4 |
7 | g.120810434_120810447del | CA2684641746 | TSPAN12 | c.468+16_468+29del (n.468+16_468+29del) c.447+16_447+29del (n.447+16_447+29del) c.393+16_393+29del (n.393+16_393+29del) | gnomAD v4 |
7 | g.120810436C= | CA1738860544 | TSPAN12 | c.468+27G= (n.468+27G=) c.447+27G= (n.447+27G=) c.393+27G= (n.393+27G=) | |
7 | g.120810436C>T | CA577566210 | TSPAN12 | c.468+27G>A (n.468+27G>A) c.447+27G>A (n.447+27G>A) c.393+27G>A (n.393+27G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.120810438C>G | CA2684641748 | TSPAN12 | c.468+25G>C (n.468+25G>C) c.447+25G>C (n.447+25G>C) c.393+25G>C (n.393+25G>C) | gnomAD v4 |
7 | g.120810440A= | CA1738860546 | TSPAN12 | c.468+23T= (n.468+23T=) c.447+23T= (n.447+23T=) c.393+23T= (n.393+23T=) | |
7 | g.120810440A>G | CA165837045 | TSPAN12 | c.468+23T>C (n.468+23T>C) c.447+23T>C (n.447+23T>C) c.393+23T>C (n.393+23T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.120810440A>T | CA2684641749 | TSPAN12 | c.468+23T>A (n.468+23T>A) c.447+23T>A (n.447+23T>A) c.393+23T>A (n.393+23T>A) | gnomAD v4 |
7 | g.120810441C>G | CA2579001817 | TSPAN12 | c.468+22G>C (n.468+22G>C) c.447+22G>C (n.447+22G>C) c.393+22G>C (n.393+22G>C) | |
7 | g.120810447A= | CA1738860549 | TSPAN12 | c.468+16T= (n.468+16T=) c.447+16T= (n.447+16T=) c.393+16T= (n.393+16T=) | |
7 | g.120810447A>C | CA651960741 | TSPAN12 | c.468+16T>G (n.468+16T>G) c.447+16T>G (n.447+16T>G) c.393+16T>G (n.393+16T>G) | COSMIC |
7 | g.120810447A>G | CA832457825 | TSPAN12 | c.468+16T>C (n.468+16T>C) c.447+16T>C (n.447+16T>C) c.393+16T>C (n.393+16T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.120810450T>C | CA165837046 | TSPAN12 | c.468+13A>G (n.468+13A>G) c.447+13A>G (n.447+13A>G) c.393+13A>G (n.393+13A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810450T= | CA1738860551 | TSPAN12 | c.468+13A= (n.468+13A=) c.447+13A= (n.447+13A=) c.393+13A= (n.393+13A=) | |
7 | g.120810451T>C | CA2684641750 | TSPAN12 | c.468+12A>G (n.468+12A>G) c.447+12A>G (n.447+12A>G) c.393+12A>G (n.393+12A>G) | gnomAD v4 |
7 | g.120810452G>A | CA2684641751 | TSPAN12 | c.468+11C>T (n.468+11C>T) c.447+11C>T (n.447+11C>T) c.393+11C>T (n.393+11C>T) | gnomAD v4 |
7 | g.120810452G>T | CA2684641752 | TSPAN12 | c.468+11C>A (n.468+11C>A) c.447+11C>A (n.447+11C>A) c.393+11C>A (n.393+11C>A) | gnomAD v4 |
7 | g.120810453T>A | CA832457829 | TSPAN12 | c.468+10A>T (n.468+10A>T) c.447+10A>T (n.447+10A>T) c.393+10A>T (n.393+10A>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.120810453T>C | CA2684641753 | TSPAN12 | c.468+10A>G (n.468+10A>G) c.447+10A>G (n.447+10A>G) c.393+10A>G (n.393+10A>G) | gnomAD v4 |
7 | g.120810453T= | CA1738860553 | TSPAN12 | c.468+10A= (n.468+10A=) c.447+10A= (n.447+10A=) c.393+10A= (n.393+10A=) | |
7 | g.120810454A>G | CA2579001818 | TSPAN12 | c.468+9T>C (n.468+9T>C) c.447+9T>C (n.447+9T>C) c.393+9T>C (n.393+9T>C) | gnomAD v4 |
7 | g.120810454A>T | CA2684641754 | TSPAN12 | c.468+9T>A (n.468+9T>A) c.447+9T>A (n.447+9T>A) c.393+9T>A (n.393+9T>A) | gnomAD v4 |
7 | g.120810455G>T | CA2684641755 | TSPAN12 | c.468+8C>A (n.468+8C>A) c.447+8C>A (n.447+8C>A) c.393+8C>A (n.393+8C>A) | gnomAD v4 |
7 | g.120810456C= | CA1738860556 | TSPAN12 | c.468+7G= (n.468+7G=) c.447+7G= (n.447+7G=) c.393+7G= (n.393+7G=) | |
7 | g.120810456C>G | CA1738860557 | TSPAN12 | c.468+7G>C (n.468+7G>C) c.447+7G>C (n.447+7G>C) c.393+7G>C (n.393+7G>C) | dbSNP |
7 | g.120810456C>T | CA2684641756 | TSPAN12 | c.468+7G>A (n.468+7G>A) c.447+7G>A (n.447+7G>A) c.393+7G>A (n.393+7G>A) | gnomAD v4 |
7 | g.120810458C>T | CA2684641757 | TSPAN12 | c.468+5G>A (n.468+5G>A) c.447+5G>A (n.447+5G>A) c.393+5G>A (n.393+5G>A) | gnomAD v4 |
7 | g.120810459T>A | CA2715751333 | TSPAN12 | c.468+4A>T (n.468+4A>T) c.447+4A>T (n.447+4A>T) c.393+4A>T (n.393+4A>T) | dbSNP |
7 | g.120810460T>C | CA165837047 | TSPAN12 | c.468+3A>G (n.468+3A>G) c.447+3A>G (n.447+3A>G) c.393+3A>G (n.393+3A>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.120810460T= | CA1738860558 | TSPAN12 | c.468+3A= (n.468+3A=) c.447+3A= (n.447+3A=) c.393+3A= (n.393+3A=) | |
7 | g.120810461A>C | CA369137238 | TSPAN12 | c.468+2T>G (n.468+2T>G) c.447+2T>G (n.447+2T>G) c.393+2T>G (n.393+2T>G) | |
7 | g.120810461A>G | CA369137235 | TSPAN12 | c.468+2T>C (n.468+2T>C) c.447+2T>C (n.447+2T>C) c.393+2T>C (n.393+2T>C) | gnomAD v4 |
7 | g.120810461A>T | CA369137240 | TSPAN12 | c.468+2T>A (n.468+2T>A) c.447+2T>A (n.447+2T>A) c.393+2T>A (n.393+2T>A) | |
7 | g.120810462C>A | CA369137244 | TSPAN12 | c.468+1G>T (n.468+1G>T) c.447+1G>T (n.447+1G>T) c.393+1G>T (n.393+1G>T) | |
7 | g.120810462C= | CA1738860563 | TSPAN12 | c.468+1G= (n.468+1G=) c.447+1G= (n.447+1G=) c.393+1G= (n.393+1G=) | |
7 | g.120810462C>G | CA369137247 | TSPAN12 | c.468+1G>C (n.468+1G>C) c.447+1G>C (n.447+1G>C) c.393+1G>C (n.393+1G>C) | |
7 | g.120810462C>T | CA4453887 | TSPAN12 | c.468+1G>A (n.468+1G>A) c.447+1G>A (n.447+1G>A) c.393+1G>A (n.393+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.120810463C>A | CA369137253 | TSPAN12 | c.468G>T (p.Glu156Asp) c.447G>T (n.447G>T) c.393G>T (p.Glu131Asp) | COSMIC |
7 | g.120810463C= | CA1738860565 | TSPAN12 | c.468G= (p.Glu156=) c.447G= (n.447G=) c.393G= (p.Glu131=) | |
7 | g.120810463C>G | CA4453888 | TSPAN12 | c.468G>C (p.Glu156Asp) c.447G>C (n.447G>C) c.393G>C (p.Glu131Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.120810463C>T | CA457395194 | TSPAN12 | c.468G>A (p.Glu156=) c.447G>A (n.447G>A) c.393G>A (p.Glu131=) | gnomAD v4 |
7 | g.120810469_120810470del | CA2695208396 | TSPAN12 | c.467_468del (p.Glu156ValfsTer2) c.446_447del (n.446_447del) c.392_393del (p.Glu131ValfsTer2) | |
7 | g.120810464T>A | CA369137259 | TSPAN12 | c.467A>T (p.Glu156Val) c.446A>T (n.446A>T) c.392A>T (p.Glu131Val) | |
7 | g.120810464T>C | CA369137262 | TSPAN12 | c.467A>G (p.Glu156Gly) c.446A>G (n.446A>G) c.392A>G (p.Glu131Gly) | gnomAD v4 |
7 | g.120810464T>G | CA369137265 | TSPAN12 | c.467A>C (p.Glu156Ala) c.446A>C (n.446A>C) c.392A>C (p.Glu131Ala) | gnomAD v2 |
7 | g.120810465C>A | CA369137269 | TSPAN12 | c.466G>T (p.Glu156Ter) c.445G>T (n.445G>T) c.391G>T (p.Glu131Ter) | gnomAD v4 |
7 | g.120810465C>G | CA369137270 | TSPAN12 | c.466G>C (p.Glu156Gln) c.445G>C (n.445G>C) c.391G>C (p.Glu131Gln) | gnomAD v4 |
7 | g.120810465C>T | CA369137272 | TSPAN12 | c.466G>A (p.Glu156Lys) c.445G>A (n.445G>A) c.391G>A (p.Glu131Lys) | gnomAD v4 |
7 | g.120810466T>A | CA369137275 | TSPAN12 | c.465A>T (p.Arg155Ser) c.444A>T (n.444A>T) c.390A>T (p.Arg130Ser) | |
7 | g.120810466T>C | CA457395201 | TSPAN12 | c.465A>G (p.Arg155=) c.444A>G (n.444A>G) c.390A>G (p.Arg130=) | |
7 | g.120810466T>G | CA369137278 | TSPAN12 | c.465A>C (p.Arg155Ser) c.444A>C (n.444A>C) c.390A>C (p.Arg130Ser) | |
7 | g.120810467C>A | CA369137281 | TSPAN12 | c.464G>T (p.Arg155Ile) c.443G>T (n.443G>T) c.389G>T (p.Arg130Ile) | gnomAD v4 |
7 | g.120810467C= | CA1738860572 | TSPAN12 | c.464G= (p.Arg155=) c.443G= (n.443G=) c.389G= (p.Arg130=) | |
7 | g.120810467C>G | CA4453889 | TSPAN12 | c.464G>C (p.Arg155Thr) c.443G>C (n.443G>C) c.389G>C (p.Arg130Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810467C>T | CA369137284 | TSPAN12 | c.464G>A (p.Arg155Lys) c.443G>A (n.443G>A) c.389G>A (p.Arg130Lys) | |
7 | g.120810468T>A | CA369137288 | TSPAN12 | c.463A>T (p.Arg155Ter) c.442A>T (n.442A>T) c.388A>T (p.Arg130Ter) | |
7 | g.120810468T>C | CA369137290 | TSPAN12 | c.463A>G (p.Arg155Gly) c.442A>G (n.442A>G) c.388A>G (p.Arg130Gly) | gnomAD v4 |
7 | g.120810468T>G | CA457395213 | TSPAN12 | c.463A>C (p.Arg155=) c.442A>C (n.442A>C) c.388A>C (p.Arg130=) | |
7 | g.120810469C>A | CA369137293 | TSPAN12 | c.462G>T (p.Gln154His) c.441G>T (n.441G>T) c.387G>T (p.Gln129His) | |
7 | g.120810469C>G | CA369137296 | TSPAN12 | c.462G>C (p.Gln154His) c.441G>C (n.441G>C) c.387G>C (p.Gln129His) | |
7 | g.120810469C>T | CA457395218 | TSPAN12 | c.462G>A (p.Gln154=) c.441G>A (n.441G>A) c.387G>A (p.Gln129=) | |
7 | g.120810470T>A | CA369137300 | TSPAN12 | c.461A>T (p.Gln154Leu) c.440A>T (n.440A>T) c.386A>T (p.Gln129Leu) | |
7 | g.120810470T>C | CA369137303 | TSPAN12 | c.461A>G (p.Gln154Arg) c.440A>G (n.440A>G) c.386A>G (p.Gln129Arg) | |
7 | g.120810470T>G | CA369137305 | TSPAN12 | c.461A>C (p.Gln154Pro) c.440A>C (n.440A>C) c.386A>C (p.Gln129Pro) | |
7 | g.120810470_120810471delinsTG | CA1738860576 | TSPAN12 | c.460_461delinsCA (p.Gln154=) c.439_440delinsCA (n.439_440delinsCA) c.385_386delinsCA (p.Gln129=) | |
7 | g.120810471del | CA916082950 | TSPAN12 | c.460del (p.Gln154ArgfsTer9) c.439del (n.439del) c.385del (p.Gln129ArgfsTer9) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.120810471G>A | CA165837048 | TSPAN12 | c.460C>T (p.Gln154Ter) c.439C>T (n.439C>T) c.385C>T (p.Gln129Ter) | dbSNP COSMIC |
7 | g.120810471G>C | CA369137310 | TSPAN12 | c.460C>G (p.Gln154Glu) c.439C>G (n.439C>G) c.385C>G (p.Gln129Glu) | gnomAD v4 |
7 | g.120810471G= | CA1738860587 | TSPAN12 | c.460C= (p.Gln154=) c.439C= (n.439C=) c.385C= (p.Gln129=) | |
7 | g.120810471G>T | CA369137313 | TSPAN12 | c.460C>A (p.Gln154Lys) c.439C>A (n.439C>A) c.385C>A (p.Gln129Lys) | |
7 | g.120810472A>C | CA369137319 | TSPAN12 | c.459T>G (p.Phe153Leu) c.438T>G (n.438T>G) c.384T>G (p.Phe128Leu) | |
7 | g.120810472A>G | CA457395228 | TSPAN12 | c.459T>C (p.Phe153=) c.438T>C (n.438T>C) c.384T>C (p.Phe128=) | |
7 | g.120810472A>T | CA369137316 | TSPAN12 | c.459T>A (p.Phe153Leu) c.438T>A (n.438T>A) c.384T>A (p.Phe128Leu) | |
7 | g.120810478dup | CA1139660224 | TSPAN12 | c.459dup (p.Gln154SerfsTer5) c.438dup (n.438dup) c.384dup (p.Gln129SerfsTer5) | ClinVar dbSNP gnomAD v4 |
7 | g.120810478del | CA645552022 | TSPAN12 | c.459del (p.Gln154ArgfsTer9) c.438del (n.438del) c.384del (p.Gln129ArgfsTer9) | gnomAD v4 COSMIC |
7 | g.120810473A>C | CA369137322 | TSPAN12 | c.458T>G (p.Phe153Cys) c.437T>G (n.437T>G) c.383T>G (p.Phe128Cys) | |
7 | g.120810473A>G | CA369137324 | TSPAN12 | c.458T>C (p.Phe153Ser) c.437T>C (n.437T>C) c.383T>C (p.Phe128Ser) | |
7 | g.120810473A>T | CA369137326 | TSPAN12 | c.458T>A (p.Phe153Tyr) c.437T>A (n.437T>A) c.383T>A (p.Phe128Tyr) | |
7 | g.120810474A= | CA1738860599 | TSPAN12 | c.457T= (p.Phe153=) c.436T= (n.436T=) c.382T= (p.Phe128=) | |
7 | g.120810474A>C | CA369137329 | TSPAN12 | c.457T>G (p.Phe153Val) c.436T>G (n.436T>G) c.382T>G (p.Phe128Val) | |
7 | g.120810474A>G | CA10628157 | TSPAN12 | c.457T>C (p.Phe153Leu) c.436T>C (n.436T>C) c.382T>C (p.Phe128Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810474A>T | CA369137334 | TSPAN12 | c.457T>A (p.Phe153Ile) c.436T>A (n.436T>A) c.382T>A (p.Phe128Ile) | |
7 | g.120810475A= | CA1738860604 | TSPAN12 | c.456T= (p.Phe152=) c.435T= (n.435T=) c.381T= (p.Phe127=) | |
7 | g.120810475A>C | CA369137336 | TSPAN12 | c.456T>G (p.Phe152Leu) c.435T>G (n.435T>G) c.381T>G (p.Phe127Leu) | |
7 | g.120810475A>G | CA457395239 | TSPAN12 | c.456T>C (p.Phe152=) c.435T>C (n.435T>C) c.381T>C (p.Phe127=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810475A>T | CA369137339 | TSPAN12 | c.456T>A (p.Phe152Leu) c.435T>A (n.435T>A) c.381T>A (p.Phe127Leu) | gnomAD v4 |
7 | g.120810476A>C | CA369137343 | TSPAN12 | c.455T>G (p.Phe152Cys) c.434T>G (n.434T>G) c.380T>G (p.Phe127Cys) | |
7 | g.120810476A>G | CA369137346 | TSPAN12 | c.455T>C (p.Phe152Ser) c.434T>C (n.434T>C) c.380T>C (p.Phe127Ser) | |
7 | g.120810476A>T | CA369137350 | TSPAN12 | c.455T>A (p.Phe152Tyr) c.434T>A (n.434T>A) c.380T>A (p.Phe127Tyr) | |
7 | g.120810477A>C | CA369137352 | TSPAN12 | c.454T>G (p.Phe152Val) c.433T>G (n.433T>G) c.379T>G (p.Phe127Val) | |
7 | g.120810477A>G | CA369137355 | TSPAN12 | c.454T>C (p.Phe152Leu) c.433T>C (n.433T>C) c.379T>C (p.Phe127Leu) | |
7 | g.120810477A>T | CA369137357 | TSPAN12 | c.454T>A (p.Phe152Ile) c.433T>A (n.433T>A) c.379T>A (p.Phe127Ile) | gnomAD v4 |
7 | g.120810478A>C | CA369137359 | TSPAN12 | c.453T>G (p.Asn151Lys) c.432T>G (n.432T>G) c.378T>G (p.Asn126Lys) | |
7 | g.120810478A>G | CA457395244 | TSPAN12 | c.453T>C (p.Asn151=) c.432T>C (n.432T>C) c.378T>C (p.Asn126=) | |
7 | g.120810478A>T | CA369137361 | TSPAN12 | c.453T>A (p.Asn151Lys) c.432T>A (n.432T>A) c.378T>A (p.Asn126Lys) | |
7 | g.120810479T>A | CA369137365 | TSPAN12 | c.452A>T (p.Asn151Ile) c.431A>T (n.431A>T) c.377A>T (p.Asn126Ile) | |
7 | g.120810479T>C | CA369137367 | TSPAN12 | c.452A>G (p.Asn151Ser) c.431A>G (n.431A>G) c.377A>G (p.Asn126Ser) | |
7 | g.120810479T>G | CA369137370 | TSPAN12 | c.452A>C (p.Asn151Thr) c.431A>C (n.431A>C) c.377A>C (p.Asn126Thr) | |
7 | g.120810480T>A | CA369137374 | TSPAN12 | c.451A>T (p.Asn151Tyr) c.430A>T (n.430A>T) c.376A>T (p.Asn126Tyr) | |
7 | g.120810480T>C | CA369137377 | TSPAN12 | c.451A>G (p.Asn151Asp) c.430A>G (n.430A>G) c.376A>G (p.Asn126Asp) | |
7 | g.120810480T>G | CA369137381 | TSPAN12 | c.451A>C (p.Asn151His) c.430A>C (n.430A>C) c.376A>C (p.Asn126His) | |
7 | g.120810481C>A | CA369137384 | TSPAN12 | c.450G>T (p.Trp150Cys) c.429G>T (n.429G>T) c.375G>T (p.Trp125Cys) | |
7 | g.120810481C>G | CA369137386 | TSPAN12 | c.450G>C (p.Trp150Cys) c.429G>C (n.429G>C) c.375G>C (p.Trp125Cys) | |
7 | g.120810481C>T | CA369137389 | TSPAN12 | c.450G>A (p.Trp150Ter) c.429G>A (n.429G>A) c.375G>A (p.Trp125Ter) | |
7 | g.120810482C>A | CA369137392 | TSPAN12 | c.449G>T (p.Trp150Leu) c.428G>T (n.428G>T) c.374G>T (p.Trp125Leu) | ClinVar dbSNP |
7 | g.120810482C>G | CA369137393 | TSPAN12 | c.449G>C (p.Trp150Ser) c.428G>C (n.428G>C) c.374G>C (p.Trp125Ser) | |
7 | g.120810482C>T | CA369137394 | TSPAN12 | c.449G>A (p.Trp150Ter) c.428G>A (n.428G>A) c.374G>A (p.Trp125Ter) | |
7 | g.120810483A>C | CA369137396 | TSPAN12 | c.448T>G (p.Trp150Gly) c.427T>G (n.427T>G) c.373T>G (p.Trp125Gly) | |
7 | g.120810483A>G | CA369137397 | TSPAN12 | c.448T>C (p.Trp150Arg) c.427T>C (n.427T>C) c.373T>C (p.Trp125Arg) | |
7 | g.120810483A>T | CA369137395 | TSPAN12 | c.448T>A (p.Trp150Arg) c.427T>A (n.427T>A) c.373T>A (p.Trp125Arg) | |
7 | g.120810484A= | CA1738860607 | TSPAN12 | c.447T= (p.Ala149=) c.426T= (n.426T=) c.372T= (p.Ala124=) | |
7 | g.120810484A>C | CA457395260 | TSPAN12 | c.447T>G (p.Ala149=) c.426T>G (n.426T>G) c.372T>G (p.Ala124=) | |
7 | g.120810484A>G | CA4453890 | TSPAN12 | c.447T>C (p.Ala149=) c.426T>C (n.426T>C) c.372T>C (p.Ala124=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.120810484A>T | CA457395263 | TSPAN12 | c.447T>A (p.Ala149=) c.426T>A (n.426T>A) c.372T>A (p.Ala124=) | |
7 | g.120810485G>A | CA369137399 | TSPAN12 | c.446C>T (p.Ala149Val) c.425C>T (n.425C>T) c.371C>T (p.Ala124Val) | |
7 | g.120810485G>C | CA369137402 | TSPAN12 | c.446C>G (p.Ala149Gly) c.425C>G (n.425C>G) c.371C>G (p.Ala124Gly) | |
7 | g.120810485G>T | CA369137406 | TSPAN12 | c.446C>A (p.Ala149Asp) c.425C>A (n.425C>A) c.371C>A (p.Ala124Asp) | |
7 | g.120810486C>A | CA369137408 | TSPAN12 | c.445G>T (p.Ala149Ser) c.424G>T (n.424G>T) c.370G>T (p.Ala124Ser) | |
7 | g.120810486C>G | CA369137409 | TSPAN12 | c.445G>C (p.Ala149Pro) c.424G>C (n.424G>C) c.370G>C (p.Ala124Pro) | |
7 | g.120810486C>T | CA369137410 | TSPAN12 | c.445G>A (p.Ala149Thr) c.424G>A (n.424G>A) c.370G>A (p.Ala124Thr) | |
7 | g.120810487A>C | CA369137411 | TSPAN12 | c.444T>G (p.His148Gln) c.423T>G (n.423T>G) c.369T>G (p.His123Gln) | |
7 | g.120810487A>G | CA457395286 | TSPAN12 | c.444T>C (p.His148=) c.423T>C (n.423T>C) c.369T>C (p.His123=) | |
7 | g.120810487A>T | CA369137412 | TSPAN12 | c.444T>A (p.His148Gln) c.423T>A (n.423T>A) c.369T>A (p.His123Gln) | |
7 | g.120810488T>A | CA369137413 | TSPAN12 | c.443A>T (p.His148Leu) c.422A>T (n.422A>T) c.368A>T (p.His123Leu) | gnomAD v4 |
7 | g.120810488T>C | CA369137414 | TSPAN12 | c.443A>G (p.His148Arg) c.422A>G (n.422A>G) c.368A>G (p.His123Arg) | |
7 | g.120810488T>G | CA369137415 | TSPAN12 | c.443A>C (p.His148Pro) c.422A>C (n.422A>C) c.368A>C (p.His123Pro) | |
7 | g.120810489G>A | CA369137416 | TSPAN12 | c.442C>T (p.His148Tyr) c.442C>T c.421C>T (n.421C>T) c.367C>T (p.His123Tyr) | |
7 | g.120810489G>C | CA369137417 | TSPAN12 | c.442C>G (p.His148Asp) c.442C>G c.421C>G (n.421C>G) c.367C>G (p.His123Asp) | COSMIC |
7 | g.120810489G>T | CA369137418 | TSPAN12 | c.442C>A (p.His148Asn) c.442C>A c.421C>A (n.421C>A) c.367C>A (p.His123Asn) | |
7 | g.120810490A= | CA1738860610 | TSPAN12 | c.441T= (p.Thr147=) c.420T= (n.420T=) c.366T= (p.Thr122=) | |
7 | g.120810490A>C | CA457395295 | TSPAN12 | c.441T>G (p.Thr147=) c.420T>G (n.420T>G) c.366T>G (p.Thr122=) | |
7 | g.120810490A>G | CA457395296 | TSPAN12 | c.441T>C (p.Thr147=) c.420T>C (n.420T>C) c.366T>C (p.Thr122=) | dbSNP |
7 | g.120810490A>T | CA457395298 | TSPAN12 | c.441T>A (p.Thr147=) c.420T>A (n.420T>A) c.366T>A (p.Thr122=) | |
7 | g.120810491G>A | CA369137419 | TSPAN12 | c.440C>T (p.Thr147Ile) c.419C>T (n.419C>T) c.365C>T (p.Thr122Ile) | |
7 | g.120810491G>C | CA369137420 | TSPAN12 | c.440C>G (p.Thr147Ser) c.419C>G (n.419C>G) c.365C>G (p.Thr122Ser) | |
7 | g.120810491G= | CA1738860620 | TSPAN12 | c.440C= (p.Thr147=) c.419C= (n.419C=) c.365C= (p.Thr122=) | |
7 | g.120810491G>T | CA4453891 | TSPAN12 | c.440C>A (p.Thr147Asn) c.419C>A (n.419C>A) c.365C>A (p.Thr122Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810492T>A | CA369137421 | TSPAN12 | c.439A>T (p.Thr147Ser) c.418A>T (n.418A>T) c.364A>T (p.Thr122Ser) | |
7 | g.120810492T>C | CA369137422 | TSPAN12 | c.439A>G (p.Thr147Ala) c.418A>G (n.418A>G) c.364A>G (p.Thr122Ala) | |
7 | g.120810492T>G | CA369137423 | TSPAN12 | c.439A>C (p.Thr147Pro) c.418A>C (n.418A>C) c.364A>C (p.Thr122Pro) | |
7 | g.120810493A>C | CA457395304 | TSPAN12 | c.438T>G (p.Leu146=) c.417T>G (n.417T>G) c.363T>G (p.Leu121=) | |
7 | g.120810493A>G | CA457395306 | TSPAN12 | c.438T>C (p.Leu146=) c.417T>C (n.417T>C) c.363T>C (p.Leu121=) | |
7 | g.120810493A>T | CA457395307 | TSPAN12 | c.438T>A (p.Leu146=) c.417T>A (n.417T>A) c.363T>A (p.Leu121=) | |
7 | g.120810494dup | CA2695208397 | TSPAN12 | c.438dup (p.Thr147TyrfsTer12) c.438dup (p.Thr147TyrfsTer?) c.417dup (n.417dup) c.363dup (p.Thr122TyrfsTer12) | |
7 | g.120810494A= | CA1738860623 | TSPAN12 | c.437T= (p.Leu146=) c.416T= (n.416T=) c.362T= (p.Leu121=) | |
7 | g.120810494A>C | CA369137424 | TSPAN12 | c.437T>G (p.Leu146Arg) c.416T>G (n.416T>G) c.362T>G (p.Leu121Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.120810494A>G | CA369137425 | TSPAN12 | c.437T>C (p.Leu146Pro) c.416T>C (n.416T>C) c.362T>C (p.Leu121Pro) | |
7 | g.120810494A>T | CA369137426 | TSPAN12 | c.437T>A (p.Leu146His) c.416T>A (n.416T>A) c.362T>A (p.Leu121His) | |
7 | g.120810495G>A | CA369137427 | TSPAN12 | c.436C>T (p.Leu146Phe) c.415C>T (n.415C>T) c.361C>T (p.Leu121Phe) | |
7 | g.120810495G>C | CA369137428 | TSPAN12 | c.436C>G (p.Leu146Val) c.415C>G (n.415C>G) c.361C>G (p.Leu121Val) | |
7 | g.120810495G>T | CA369137429 | TSPAN12 | c.436C>A (p.Leu146Ile) c.415C>A (n.415C>A) c.361C>A (p.Leu121Ile) | |
7 | g.120810496C>A | CA369137430 | TSPAN12 | c.435G>T (p.Trp145Cys) c.414G>T (n.414G>T) c.360G>T (p.Trp120Cys) | gnomAD v4 |
7 | g.120810496C>G | CA369137431 | TSPAN12 | c.435G>C (p.Trp145Cys) c.414G>C (n.414G>C) c.360G>C (p.Trp120Cys) | |
7 | g.120810496C>T | CA369137432 | TSPAN12 | c.435G>A (p.Trp145Ter) c.414G>A (n.414G>A) c.360G>A (p.Trp120Ter) | |
7 | g.120810497C>A | CA369137433 | TSPAN12 | c.434G>T (p.Trp145Leu) c.413G>T (n.413G>T) c.359G>T (p.Trp120Leu) | |
7 | g.120810497C>G | CA369137435 | TSPAN12 | c.434G>C (p.Trp145Ser) c.413G>C (n.413G>C) c.359G>C (p.Trp120Ser) | gnomAD v4 |
7 | g.120810497C>T | CA369137434 | TSPAN12 | c.434G>A (p.Trp145Ter) c.413G>A (n.413G>A) c.359G>A (p.Trp120Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.120810498A>C | CA369137436 | TSPAN12 | c.433T>G (p.Trp145Gly) c.412T>G (n.412T>G) c.358T>G (p.Trp120Gly) | |
7 | g.120810498A>G | CA369137437 | TSPAN12 | c.433T>C (p.Trp145Arg) c.412T>C (n.412T>C) c.358T>C (p.Trp120Arg) | |
7 | g.120810498A>T | CA369137438 | TSPAN12 | c.433T>A (p.Trp145Arg) c.412T>A (n.412T>A) c.358T>A (p.Trp120Arg) | |
7 | g.120810499C>A | CA457395327 | TSPAN12 | c.432G>T (p.Arg144=) c.411G>T (n.411G>T) c.357G>T (p.Arg119=) | |
7 | g.120810499C= | CA1738860625 | TSPAN12 | c.432G= (p.Arg144=) c.411G= (n.411G=) c.357G= (p.Arg119=) | |
7 | g.120810499C>G | CA457395330 | TSPAN12 | c.432G>C (p.Arg144=) c.411G>C (n.411G>C) c.357G>C (p.Arg119=) | |
7 | g.120810499C>T | CA165837049 | TSPAN12 | c.432G>A (p.Arg144=) c.411G>A (n.411G>A) c.357G>A (p.Arg119=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810500C>A | CA369137439 | TSPAN12 | c.431G>T (p.Arg144Leu) c.410G>T (n.410G>T) c.356G>T (p.Arg119Leu) | |
7 | g.120810500C= | CA1738860631 | TSPAN12 | c.431G= (p.Arg144=) c.410G= (n.410G=) c.356G= (p.Arg119=) | |
7 | g.120810500C>G | CA4453893 | TSPAN12 | c.431G>C (p.Arg144Pro) c.410G>C (n.410G>C) c.356G>C (p.Arg119Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810500C>T | CA4453892 | TSPAN12 | c.431G>A (p.Arg144Gln) c.410G>A (n.410G>A) c.356G>A (p.Arg119Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810501G>A | CA4453894 | TSPAN12 | c.430C>T (p.Arg144Trp) c.409C>T (n.409C>T) c.355C>T (p.Arg119Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120810501G>C | CA369137440 | TSPAN12 | c.430C>G (p.Arg144Gly) c.409C>G (n.409C>G) c.355C>G (p.Arg119Gly) | |
7 | g.120810501G= | CA1738860637 | TSPAN12 | c.430C= (p.Arg144=) c.409C= (n.409C=) c.355C= (p.Arg119=) | |
7 | g.120810501G>T | CA457395346 | TSPAN12 | c.430C>A (p.Arg144=) c.409C>A (n.409C>A) c.355C>A (p.Arg119=) | gnomAD v4 |
7 | g.120810502A= | CA1738860640 | TSPAN12 | c.429T= (p.Tyr143=) c.408T= (n.408T=) c.354T= (p.Tyr118=) | |
7 | g.120810502A>C | CA369137441 | TSPAN12 | c.429T>G (p.Tyr143Ter) c.408T>G (n.408T>G) c.354T>G (p.Tyr118Ter) | |
7 | g.120810502A>G | CA165837050 | TSPAN12 | c.429T>C (p.Tyr143=) c.408T>C (n.408T>C) c.354T>C (p.Tyr118=) | dbSNP gnomAD v4 |
7 | g.120810502A>T | CA369137442 | TSPAN12 | c.429T>A (p.Tyr143Ter) c.408T>A (n.408T>A) c.354T>A (p.Tyr118Ter) | |
7 | g.120810503T>A | CA369137445 | TSPAN12 | c.428A>T (p.Tyr143Phe) c.407A>T (n.407A>T) c.353A>T (p.Tyr118Phe) | |
7 | g.120810503T>C | CA369137444 | TSPAN12 | c.428A>G (p.Tyr143Cys) c.407A>G (n.407A>G) c.353A>G (p.Tyr118Cys) | |
7 | g.120810503T>G | CA369137443 | TSPAN12 | c.428A>C (p.Tyr143Ser) c.407A>C (n.407A>C) c.353A>C (p.Tyr118Ser) | |
7 | g.120810504A>C | CA369137446 | TSPAN12 | c.427T>G (p.Tyr143Asp) c.406T>G (n.406T>G) c.352T>G (p.Tyr118Asp) | |
7 | g.120810504A>G | CA369137447 | TSPAN12 | c.427T>C (p.Tyr143His) c.406T>C (n.406T>C) c.352T>C (p.Tyr118His) | gnomAD v4 |
7 | g.120810504A>T | CA369137448 | TSPAN12 | c.427T>A (p.Tyr143Asn) c.406T>A (n.406T>A) c.352T>A (p.Tyr118Asn) | |
7 | g.120810505T>A | CA369137449 | TSPAN12 | c.426A>T (p.Arg142Ser) c.405A>T (n.405A>T) c.351A>T (p.Arg117Ser) | |
7 | g.120810505T>C | CA165837051 | TSPAN12 | c.426A>G (p.Arg142=) c.405A>G (n.405A>G) c.351A>G (p.Arg117=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.120810505T>G | CA369137450 | TSPAN12 | c.426A>C (p.Arg142Ser) c.405A>C (n.405A>C) c.351A>C (p.Arg117Ser) | |
7 | g.120810505T= | CA1738860645 | TSPAN12 | c.426A= (p.Arg142=) c.405A= (n.405A=) c.351A= (p.Arg117=) | |
7 | g.120810506C>A | CA369137451 | TSPAN12 | c.425G>T (p.Arg142Ile) c.404G>T (n.404G>T) c.350G>T (p.Arg117Ile) | |
7 | g.120810506C= | CA1738860648 | TSPAN12 | c.425G= (p.Arg142=) c.404G= (n.404G=) c.350G= (p.Arg117=) | |
7 | g.120810506C>G | CA369137452 | TSPAN12 | c.425G>C (p.Arg142Thr) c.404G>C (n.404G>C) c.350G>C (p.Arg117Thr) | |
7 | g.120810506C>T | CA4453895 | TSPAN12 | c.425G>A (p.Arg142Lys) c.404G>A (n.404G>A) c.350G>A (p.Arg117Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.120810507T>A | CA369137453 | TSPAN12 | c.424A>T (p.Arg142Ter) c.403A>T (n.403A>T) c.349A>T (p.Arg117Ter) | |
7 | g.120810507T>C | CA4453896 | TSPAN12 | c.424A>G (p.Arg142Gly) c.403A>G (n.403A>G) c.349A>G (p.Arg117Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.120810507T>G | CA457395367 | TSPAN12 | c.424A>C (p.Arg142=) c.403A>C (n.403A>C) c.349A>C (p.Arg117=) | |
7 | g.120810507T= | CA1738860652 | TSPAN12 | c.424A= (p.Arg142=) c.403A= (n.403A=) c.349A= (p.Arg117=) | |
7 | g.120810508A>C | CA457395371 | TSPAN12 | c.423T>G (p.Pro141=) c.402T>G (n.402T>G) c.348T>G (p.Pro116=) | |
7 | g.120810508A>G | CA457395376 | TSPAN12 | c.423T>C (p.Pro141=) c.402T>C (n.402T>C) c.348T>C (p.Pro116=) | |
7 | g.120810508A>T | CA457395373 | TSPAN12 | c.423T>A (p.Pro141=) c.402T>A (n.402T>A) c.348T>A (p.Pro116=) | |
7 | g.120810509G>A | CA369137454 | TSPAN12 | c.422C>T (p.Pro141Leu) c.401C>T (n.401C>T) c.347C>T (p.Pro116Leu) | |
7 | g.120810509G>C | CA369137455 | TSPAN12 | c.422C>G (p.Pro141Arg) c.401C>G (n.401C>G) c.347C>G (p.Pro116Arg) | |
7 | g.120810509G>T | CA369137456 | TSPAN12 | c.422C>A (p.Pro141His) c.401C>A (n.401C>A) c.347C>A (p.Pro116His) | |
7 | g.120810510G>A | CA4453897 | TSPAN12 | c.421C>T (p.Pro141Ser) c.400C>T (n.400C>T) c.346C>T (p.Pro116Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.120810510G>C | CA369137458 | TSPAN12 | c.421C>G (p.Pro141Ala) c.400C>G (n.400C>G) c.346C>G (p.Pro116Ala) | |
7 | g.120810510G= | CA1738860658 | TSPAN12 | c.421C= (p.Pro141=) c.400C= (n.400C=) c.346C= (p.Pro116=) | |
7 | g.120810510G>T | CA369137457 | TSPAN12 | c.421C>A (p.Pro141Thr) c.400C>A (n.400C>A) c.346C>A (p.Pro116Thr) | |
7 | g.120810511T>A | CA369137460 | TSPAN12 | c.420A>T (p.Leu140Phe) c.399A>T (n.399A>T) c.345A>T (p.Leu115Phe) | |
7 | g.120810511T>C | CA457395388 | TSPAN12 | c.420A>G (p.Leu140=) c.399A>G (n.399A>G) c.345A>G (p.Leu115=) | |
7 | g.120810511T>G | CA369137459 | TSPAN12 | c.420A>C (p.Leu140Phe) c.399A>C (n.399A>C) c.345A>C (p.Leu115Phe) | |
7 | g.120810512A= | CA1738860662 | TSPAN12 | c.419T= (p.Leu140=) c.398T= (n.398T=) c.344T= (p.Leu115=) | |
7 | g.120810512A>C | CA369137461 | TSPAN12 | c.419T>G (p.Leu140Ter) c.398T>G (n.398T>G) c.344T>G (p.Leu115Ter) | |
7 | g.120810512A>G | CA369137462 | TSPAN12 | c.419T>C (p.Leu140Ser) c.398T>C (n.398T>C) c.344T>C (p.Leu115Ser) | |
7 | g.120810512A>T | CA251423 | TSPAN12 | c.419T>A (p.Leu140Ter) c.398T>A (n.398T>A) c.344T>A (p.Leu115Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.120810513A>C | CA369137463 | TSPAN12 | c.418T>G (p.Leu140Val) c.397T>G (n.397T>G) c.343T>G (p.Leu115Val) | |
7 | g.120810513A>G | CA457395404 | TSPAN12 | c.418T>C (p.Leu140=) c.397T>C (n.397T>C) c.343T>C (p.Leu115=) | |
7 | g.120810513A>T | CA369137464 | TSPAN12 | c.418T>A (p.Leu140Ile) c.397T>A (n.397T>A) c.343T>A (p.Leu115Ile) | |
7 | g.120810514T>A | CA457395407 | TSPAN12 | c.417A>T (p.Gly139=) c.396A>T (n.396A>T) c.342A>T (p.Gly114=) | gnomAD v4 |
7 | g.120810514T>C | CA457395409 | TSPAN12 | c.417A>G (p.Gly139=) c.396A>G (n.396A>G) c.342A>G (p.Gly114=) | |
7 | g.120810514T>G | CA457395412 | TSPAN12 | c.417A>C (p.Gly139=) c.396A>C (n.396A>C) c.342A>C (p.Gly114=) | |
7 | g.120810515C>A | CA369137465 | TSPAN12 | c.416G>T (p.Gly139Val) c.395G>T (n.395G>T) c.341G>T (p.Gly114Val) | gnomAD v4 |
7 | g.120810515C>G | CA369137466 | TSPAN12 | c.416G>C (p.Gly139Ala) c.395G>C (n.395G>C) c.341G>C (p.Gly114Ala) | |
7 | g.120810515C>T | CA369137467 | TSPAN12 | c.416G>A (p.Gly139Glu) c.395G>A (n.395G>A) c.341G>A (p.Gly114Glu) | |
7 | g.120810516C>A | CA369137468 | TSPAN12 | c.415G>T (p.Gly139Ter) c.394G>T (n.394G>T) c.340G>T (p.Gly114Ter) | |
7 | g.120810516C>G | CA369137469 | TSPAN12 | c.415G>C (p.Gly139Arg) c.394G>C (n.394G>C) c.340G>C (p.Gly114Arg) | |
7 | g.120810516C>T | CA369137470 | TSPAN12 | c.415G>A (p.Gly139Arg) c.394G>A (n.394G>A) c.340G>A (p.Gly114Arg) | |
7 | g.120810517A>C | CA369137471 | TSPAN12 | c.414T>G (p.Tyr138Ter) c.393T>G (n.393T>G) c.339T>G (p.Tyr113Ter) | |
7 | g.120810517A>G | CA457395427 | TSPAN12 | c.414T>C (p.Tyr138=) c.393T>C (n.393T>C) c.339T>C (p.Tyr113=) | |
7 | g.120810517A>T | CA369137472 | TSPAN12 | c.414T>A (p.Tyr138Ter) c.393T>A (n.393T>A) c.339T>A (p.Tyr113Ter) |